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190 genes
DNA Immunity & Inflammation Test
Test type
Lab Test
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Saliva
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See allThe GetTested DNA Immunity & Inflammation test reveals your genetic tendencies towards inflammation, autoimmune diseases, allergies, and infections. By examining genes linked to conditions like CRP (inflammation), psoriasis, and gluten sensitivity (celiac disease), as well as your response to common allergens and pathogens, it offers a deep dive into how your immune system functions.
You can easily collect your saliva sample with the included test kit and send it to our lab. The price covers the return shipping. You’ll receive your detailed results digitally within 6-8 weeks.
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- In stock
- At-home test
- Results 6-8 weeks
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What is analysed in the test?
CRP (Inflammation)
APCSCRPFCER1AFCRL6LEPROR10J1OR10J5UNC119B
APCS (Amyloid P Component, Serum): APCS is a critical component of the innate immune system, playing a role in the response to infection and injury. It binds to pathogens and damaged cells, facilitating their removal. APCS is also involved in the formation of amyloid plaques, linking it to conditions like Alzheimer's disease. Its function in modulating immune responses and inflammation makes it a target for therapeutic research.
C-reactive protein (CRP) testing measures the level of CRP in the blood, an indicator of inflammation in the body. Elevated CRP levels can signal acute inflammations, infections, and chronic diseases such as rheumatoid arthritis or heart disease. This test is commonly used to diagnose and monitor conditions that cause inflammation. It's particularly valuable for detecting flare-ups in chronic inflammatory conditions and assessing the risk of cardiovascular diseases. Regular CRP testing helps in guiding treatment decisions and monitoring the effectiveness of therapies in reducing inflammation.
FCER1A (High Affinity IgE Receptor, Alpha Polypeptide): FCER1A is a key component of the high affinity receptor for immunoglobulin E (IgE), critical for initiating allergic responses. It is primarily expressed on the surface of mast cells and basophils and plays a pivotal role in the release of histamine and other mediators in response to allergen exposure. Overactivity of FCER1A is linked to the development of allergic diseases, such as asthma, dermatitis, and anaphylaxis, emphasizing its role in allergic sensitization and inflammation.
FCRL6 (Fc Receptor-Like 6): FCRL6 is involved in the immune system's regulation, expressed on certain T cells and natural killer (NK) cells. It plays a role in modulating immune responses, potentially influencing the activity of these cells in infection, autoimmune diseases, and cancer. The study of FCRL6 aims to uncover novel therapeutic targets for enhancing immune regulation.
LEPR (Leptin Receptor): LEPR is the receptor for the hormone leptin. It's critical in regulating energy intake and expenditure, including appetite and metabolism. Mutations in LEPR can lead to leptin resistance, a condition often observed in obesity, where the body does not adequately respond to leptin signals.
OR10J1 (Olfactory Receptor 10J1): OR10J1 belongs to the family of olfactory receptors, which are crucial for the sense of smell. This gene encodes receptors that detect specific odor molecules, contributing to the vast array of scent perceptions. Research into this receptor not only enhances our understanding of olfaction but may also provide insights into the development of new sensory-related technologies and fragrance design.
OR10J5 (Olfactory Receptor 10J5): OR10J5 belongs to the family of olfactory receptors, which are crucial for the sense of smell. This gene encodes receptors that detect specific odor molecules, contributing to the vast array of scent perceptions. Research into this receptor not only enhances our understanding of olfaction but may also provide insights into the development of new sensory-related technologies and fragrance design.
UNC119B (UNC-119 Homolog B): UNC119B is involved in the trafficking of proteins to cilia, cellular structures important in signaling pathways and sensory functions. It plays a role in the development and function of photoreceptor cells in the retina. Dysfunctions in UNC119B can impact ciliary function, potentially leading to retinal diseases and impairing vision.
Joint Inflammation
ANAPC4CDC5LCOL11A1COL27A1CSKDPEP1EPHA5ERI1FAM53AHLA-DPB1ICA1LKIF26BPRDM5SLC44A2SOCS2SRRTGFATGFB2
ANAPC4 (Anaphase Promoting Complex Subunit 4): ANAPC4 is a component of the anaphase-promoting complex/cyclosome (APC/C), a key regulator of the cell cycle. It is involved in marking proteins for degradation, thus controlling the progression of cells through the cell cycle. Dysregulation of ANAPC4 can lead to cell cycle abnormalities, with potential implications for cancer development and progression.
CDC5L (Cell Division Cycle 5-Like): CDC5L plays a crucial role in the regulation of cell cycle progression and the splicing of pre-mRNA. It is a part of a complex involved in the maintenance of genomic stability and the proper segregation of chromosomes during cell division. Mutations or alterations in CDC5L expression can disrupt cell cycle control, leading to cellular abnormalities and potentially contributing to cancer development. Research into CDC5L focuses on understanding its part in cell cycle regulation and its implications for cancer therapy.
COL11A1 (Collagen Type XI Alpha 1 Chain): COL11A1 encodes a component of type XI collagen, important in the structure and integrity of connective tissue. Mutations in this gene are associated with a variety of disorders affecting connective tissue, including certain types of Ehlers-Danlos syndrome and Stickler syndrome.
COL27A1 (Collagen Type XXVII Alpha 1 Chain): COL27A1 encodes a member of the collagen family, proteins that are essential for the structural integrity and function of connective tissues. This type of collagen is particularly important in the development and maintenance of cartilage and the skeleton. Mutations in COL27A1 have been associated with disorders affecting skeletal development, highlighting its role in bone and cartilage health. Studies on COL27A1 aim to uncover its contributions to musculoskeletal diseases and potential targets for treatment.
CSK (C-Src Tyrosine Kinase): CSK is a key regulatory enzyme that phosphorylates and thereby inhibits Src family tyrosine kinases, crucial components in signaling pathways for cell growth, differentiation, and survival. Dysregulation of CSK activity can lead to aberrant cellular signaling, contributing to the development of cancer and other diseases. Understanding CSK's regulatory mechanisms provides insights into the control of cell signaling and offers potential avenues for therapeutic intervention in diseases driven by tyrosine kinase dysregulation.
DPEP1 (Dipeptidase 1): DPEP1 is involved in the hydrolysis of dipeptides and has a role in detoxification processes, particularly in the kidney. It participates in the metabolism of glutathione and leukotrienes, compounds important for cellular redox balance and inflammation. Variations in DPEP1 activity can affect drug metabolism and the body's response to inflammatory stimuli. Research into DPEP1 focuses on its implications for kidney function, hypertension, and inflammatory diseases.
EPHA5 (EPH Receptor A5): EPHA5 is part of the ephrin receptor subfamily of protein-tyrosine kinases, which play critical roles in developmental processes, particularly in the nervous system. EPHA5 and its ligands are involved in mediating developmental events, such as neuronal migration and axon guidance. Dysregulation of EPHA5 signaling has been implicated in neurodevelopmental disorders and cancer. Studies on EPHA5 seek to understand its role in neural development and explore its potential as a therapeutic target in neurological diseases and cancer.
ERI1 (Exoribonuclease 1): ERI1 is essential for RNA interference and the regulation of small RNA stability, playing a critical role in RNA-mediated gene silencing processes. It helps in the degradation of RNA duplexes and the resolution of RNA-induced silencing complexes (RISCs), impacting gene expression and cellular defense mechanisms against viruses. Research on ERI1 focuses on understanding its role in post-transcriptional gene regulation and its potential implications for antiviral responses and cancer.
FAM53A (Family With Sequence Similarity 53 Member A): FAM53A is implicated in the regulation of cell proliferation and may play a role in cellular development and differentiation. Although less studied, its function appears to be crucial for normal cellular functions and possibly for the maintenance of cellular integrity. Ongoing research aims to clarify its exact roles and how its dysregulation may contribute to disease processes, including cancer and developmental disorders.
HLA-DPB1 (Major Histocompatibility Complex, Class II, DP Beta 1): HLA-DPB1 is part of the HLA complex, crucial for the immune system's ability to recognize and respond to foreign substances. It's involved in antigen presentation and is important in autoimmune diseases and transplant compatibility.
ICA1L (Islet Cell Autoantigen 1-Like): ICA1L is related to proteins involved in neuroendocrine secretion and is thought to play a role in the regulation of insulin secretion in pancreatic beta cells. Its study is significant for understanding autoimmune diabetes, as it may be involved in the autoimmunity process affecting insulin-producing cells. Research into ICA1L could provide insights into the pathogenesis of diabetes and potential targets for therapeutic intervention.
KIF26B (Kinesin Family Member 26B): KIF26B is a member of the kinesin family, proteins that are motor molecules involved in the transport of cellular cargo along microtubules. It plays a role in developmental processes, including kidney and limb development, through the regulation of morphogenetic movements and signal transduction pathways. Mutations or dysregulation of KIF26B can lead to developmental abnormalities, making it a focus for understanding congenital disorders.
PRDM5 (PR Domain Containing 5): PRDM5 is a transcription factor that plays a significant role in gene regulation, cellular differentiation, and extracellular matrix organization. It is involved in the development and maintenance of various tissues, including bone, cartilage, and connective tissue. Mutations in PRDM5 are linked to brittle cornea syndrome and other connective tissue disorders, highlighting its importance in tissue integrity and disease.
SLC44A2 (Solute Carrier Family 44 Member 2): SLC44A2 is involved in choline transport and is implicated in the modulation of immune responses and inflammation. It has been identified as a risk factor for venous thromboembolism and has a role in neutrophil migration and activation. The study of SLC44A2 is important for understanding its contributions to thrombotic disorders and immune system regulation, offering potential targets for therapeutic interventions in inflammatory and thrombotic diseases.
SOCS2 (Suppressor of Cytokine Signaling 2): SOCS2 is a key regulator in the cytokine signaling pathway, part of a family of proteins that negatively regulate cytokine signaling to maintain immune balance and prevent excessive inflammation. It targets signaling pathways initiated by growth hormones and various cytokines to control cell growth, differentiation, and apoptosis. SOCS2's role in modulating immune responses and its involvement in metabolic regulation make it a subject of interest for understanding immune disorders, cancers, and metabolic diseases. Research into SOCS2 aims to uncover its potential as a therapeutic target for managing diseases related to immune dysregulation and metabolic imbalances.
SRR (Serine Racemase): SRR catalyzes the production of D-serine, a co-agonist of the NMDA receptor, which is critical for neurotransmission and synaptic plasticity in the brain. Alterations in SRR activity can affect glutamatergic signaling and have been linked to neurodegenerative disorders like Alzheimer's disease and psychiatric conditions such as schizophrenia, reflecting its key role in brain function and mental health.
TGFA (Transforming Growth Factor Alpha): TGFA is a growth factor that binds to the epidermal growth factor receptor (EGFR), initiating a signaling cascade that promotes cell proliferation and differentiation. It plays a significant role in the development and repair of epithelial tissues and is involved in the pathogenesis of various cancers through its ability to stimulate cell growth. The study of TGFA focuses on its functions in tissue regeneration and carcinogenesis, offering insights into potential therapeutic strategies for cancer and other diseases involving epithelial tissue damage and repair.
TGFB2 (Transforming Growth Factor Beta 2): TGFB2 is a cytokine involved in cell growth, proliferation, differentiation, and apoptosis. It plays a critical role in embryonic development and tissue repair and has been implicated in various diseases, including cancer and fibrotic diseases.
Gut Inflammation
ADOCARD9CRTC3ETS2HNF4AIL12BIL23RINAVAIRF8JAK2NCR3NKX2-3NRIP1PDGFBPHACTR2PTGER4STAT3
ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes the adenosine deaminase enzyme, specifically for RNA. This enzyme catalyzes the conversion of adenosine to inosine in RNA molecules, which can impact RNA stability, function, and regulation. ADO plays a critical role in RNA editing processes that contribute to the diversity and functionality of RNA molecules.
CARD9 (Caspase Recruitment Domain Family Member 9): CARD9 is a gene involved in innate immune signaling. It encodes a protein that contains a caspase recruitment domain (CARD) and plays a role in immune responses to fungal pathogens. CARD9 is a key player in the activation of immune cells and the production of cytokines in response to fungal infections.
CRTC3 (CREB Regulated Transcription Coactivator 3): CRTC3 is a gene associated with transcriptional regulation. It encodes a coactivator protein that interacts with CREB (cAMP response element-binding protein) to modulate gene expression in response to various signaling pathways. CRTC3 is involved in processes related to cellular energy balance, metabolism, and glucose homeostasis.
ETS2 (ETS Proto-Oncogene 2, Transcription Factor): ETS2 is a gene encoding a transcription factor from the ETS family. Transcription factors like ETS2 regulate the expression of target genes by binding to specific DNA sequences. ETS2 has been implicated in various cellular processes, including cell proliferation, differentiation, and development. Dysregulation of ETS2 can be associated with cancer and developmental disorders.
HNF4A (Hepatocyte Nuclear Factor 4 Alpha): HNF4A is a gene crucial for liver development and function. It encodes a transcription factor that plays a central role in regulating the expression of genes involved in liver development, glucose metabolism, and lipid metabolism. Mutations in HNF4A can lead to various metabolic disorders, including maturity-onset diabetes of the young (MODY).
IL12B (Interleukin 12B): IL12B is a gene that encodes the p40 subunit of interleukin-12 (IL-12), a cytokine involved in immune responses. IL-12 plays a critical role in stimulating the immune system's activity against infections and tumors by promoting the production of interferon-gamma (IFN-γ) and the activation of T cells and natural killer (NK) cells.
IL23R (Interleukin 23 Receptor): IL23R is a gene encoding the receptor for interleukin-23 (IL-23), a cytokine involved in immune regulation. The IL23R receptor is primarily found on immune cells, and its activation is important for the differentiation and function of T helper 17 (Th17) cells, which play a role in inflammatory responses and autoimmune diseases.
INAVA (Innate Immune Signal Activator): INAVA is a gene associated with innate immune signaling. It is involved in the regulation of the NF-kappaB signaling pathway, which plays a crucial role in immune responses to pathogens and inflammation. INAVA's function contributes to the activation of immune cells and the production of inflammatory mediators.
IRF8 (Interferon Regulatory Factor 8): IRF8 is a gene encoding a transcription factor that is important for the development and function of immune cells, including dendritic cells and macrophages. IRF8 regulates the expression of genes involved in immune responses and antigen presentation. Mutations in IRF8 can impact immune cell differentiation and function.
JAK2 (Janus Kinase 2): JAK2 is a gene encoding a kinase enzyme that is part of the Janus kinase (JAK) family. JAK2 is involved in cytokine signaling pathways and is crucial for the activation of immune and hematopoietic cells. Mutations in JAK2 are associated with blood disorders such as polycythemia vera and myeloproliferative neoplasms.
NCR3 (Natural Cytotoxicity Triggering Receptor 3): NCR3 is a gene that encodes a natural cytotoxicity receptor expressed on NK cells and certain T cells. NCR3 is involved in the recognition and targeting of infected or abnormal cells for destruction. It plays a role in the innate immune response against viruses and tumor cells.
NKX2-3 (NK2 Homeobox 3): NKX2-3 is a gene encoding a transcription factor that is important for gastrointestinal development and homeostasis. It regulates the expression of genes involved in intestinal epithelial cell differentiation and mucosal immunity. Dysregulation of NKX2-3 has been associated with inflammatory bowel diseases.
NRIP1 (Nuclear Receptor Interacting Protein 1): NRIP1 is a gene that encodes a protein involved in nuclear receptor signaling. It functions as a coactivator for various nuclear receptors, including estrogen receptors (ERs) and peroxisome proliferator-activated receptors (PPARs). NRIP1 plays a role in regulating gene expression in response to hormonal signals and is associated with processes such as metabolism and cell growth.
PDGFB (Platelet-Derived Growth Factor Subunit B): PDGFB is a gene that encodes a growth factor subunit involved in cell signaling and tissue repair. It is a component of the platelet-derived growth factor (PDGF) family, which plays a crucial role in cell proliferation and migration. PDGFB is implicated in processes like wound healing, tissue remodeling, and angiogenesis (formation of new blood vessels).
PHACTR2 (Phosphatase and Actin Regulator 2): PHACTR2 is a gene associated with the regulation of cellular processes, including cell signaling and cytoskeletal dynamics. It encodes a protein that interacts with protein phosphatase 1 (PP1) and actin, contributing to the control of actin filament organization and cell morphology. PHACTR2 is involved in processes like cell migration and may play a role in neuronal development.
PTGER4 (Prostaglandin E Receptor 4): PTGER4 is a gene that encodes a receptor for prostaglandin E2 (PGE2), a lipid mediator involved in inflammation and immune responses. PTGER4 activation influences various cellular functions, including immune cell activation and cytokine production. It plays a role in modulating inflammation and has been studied in the context of autoimmune and inflammatory diseases.
STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a critical transcription factor involved in various cellular processes, including cell growth, differentiation, and apoptosis. It plays a significant role in the immune response and is heavily implicated in cancer biology, with dysregulation of STAT3 being linked to a variety of cancers and other diseases.
Appendicitis
DLEU7ENPEPKRT73LTBRMTARC1NKX2-3OSR1PITX2TUB
DLEU7 (Deleted in Lymphocytic Leukemia 7): DLEU7 is a gene that has garnered attention in cancer research, particularly in the context of chronic lymphocytic leukemia. Its name reflects its discovery, where it was found deleted in certain leukemia cases. This gene is thought to play a role in cell cycle regulation and apoptosis, and its deletion or dysfunction may contribute to the development and progression of cancer. Research into DLEU7 offers potential insights into novel therapeutic targets and diagnostic markers for leukemia and possibly other cancers.
ENPEP (Glutamyl Aminopeptidase): ENPEP encodes an enzyme known as glutamyl aminopeptidase, which plays a crucial role in blood pressure regulation and fluid balance in the body. This enzyme is involved in the angiotensin pathway, a key regulator of blood pressure, by processing angiotensin II, a potent vasoconstrictor. Alterations or dysfunctions in ENPEP have implications in hypertension and cardiovascular diseases, making it a target for research in these areas.
KRT73 (Keratin 73): KRT73 is a gene encoding for a type of keratin, a protein essential for the structural integrity of hair and nails. Specifically, Keratin 73 is involved in hair shaft formation. Mutations or alterations in this gene can lead to hair disorders, particularly affecting the texture and strength of hair. Studies on KRT73 contribute to understanding hair biology and potential treatments for hair-related conditions.
LTBR (Lymphotoxin B Receptor): LTBR stands for Lymphotoxin B Receptor, a protein crucial for the development and organization of lymphoid tissues. This receptor plays a significant role in immune responses, particularly in the formation of lymph nodes and secondary lymphoid organs. Aberrations in LTBR function are linked to autoimmune diseases and have implications in immune system disorders, making it a significant focus in immunological research.
MTARC1 (Mitochondrial Amidoxime Reducing Component 1): MTARC1 is a mitochondrial gene involved in the reduction of N-hydroxylated compounds, a process important for detoxification. It plays a role in cellular metabolism and energy production. Alterations in MTARC1 can affect mitochondrial function, which is crucial for energy production in cells. Research into MTARC1 is important for understanding metabolic disorders and mitochondrial diseases.
NKX2-3 (NK2 Homeobox 3): NKX2-3 is a gene encoding a transcription factor that is important for gastrointestinal development and homeostasis. It regulates the expression of genes involved in intestinal epithelial cell differentiation and mucosal immunity. Dysregulation of NKX2-3 has been associated with inflammatory bowel diseases.
OSR1 (Odd-Skipped Related 1): OSR1 is a transcription factor gene playing a key role in embryonic development, especially in the formation of the heart and urogenital system. Mutations or dysregulation of OSR1 can lead to developmental abnormalities in these systems. Research on OSR1 is significant for understanding congenital defects and developmental biology.
PITX2 (Paired Like Homeodomain 2): PITX2 is critical for the development of multiple organ systems, including the eyes, heart, and abdominal organs. It's a transcription factor involved in the left-right asymmetry of the body. Mutations in PITX2 are associated with Axenfeld-Rieger syndrome, which affects the eyes and other organs. Understanding PITX2 is key in developmental biology and in exploring treatments for related congenital disorders.
TUB (Tubby Bipartite Transcription Factor): The TUB gene encodes the Tubby bipartite transcription factor, which is involved in the regulation of appetite and body weight. Mutations in TUB have been linked to obesity and retinal degeneration. This gene is particularly significant in the study of metabolic disorders and eye diseases, providing insights into the genetic components of obesity and vision problems.
Pancreas Inflammation
ABCG5ADRB2CTRCJAKMIP2MORC4NUP62CLPRSS1PWWP3BRADXRNF128SLC25A34SPINK5STK32A
ABCG5 (ATP Binding Cassette Subfamily G Member 5): ABCG5 is part of the ATP-binding cassette transporter family and plays a crucial role in the regulation of dietary cholesterol. It functions in tandem with another gene, ABCG8, to limit intestinal absorption and promote the excretion of sterols from the body. Mutations in ABCG5 are associated with sitosterolemia, a rare disorder characterized by high levels of plant sterols in blood, leading to atherosclerosis and other cardiovascular issues.
ADRB2 (Adrenoceptor Beta 2): ADRB2 encodes the beta-2-adrenergic receptor, which is involved in the 'fight or flight' response. It mediates smooth muscle relaxation in the airways and blood vessels and is a target for drugs treating asthma and COPD. Genetic variations in ADRB2 can affect an individual's response to these medications.
CTRC (Chymotrypsin C): CTRC is a gene encoding the enzyme chymotrypsin C, which is involved in the digestion of proteins in the pancreas. Mutations in this gene can lead to chronic pancreatitis, a condition characterized by inflammation and damage to the pancreas. Research on CTRC is vital for understanding pancreatic diseases and developing treatments for pancreatic dysfunction.
JAKMIP2 (Janus Kinase And Microtubule Interacting Protein 2): JAKMIP2 is involved in the regulation of Janus kinase (JAK) signaling pathways, which are crucial for various cellular processes, including immune function and cell growth. Dysregulation of JAKMIP2 can impact immune responses and has potential implications in autoimmune disorders and cancers.
MORC4 (MORC Family CW-Type Zinc Finger 4): MORC4 is involved in chromatin remodeling and gene expression regulation. This gene has implications in cellular processes like DNA repair and apoptosis. Mutations or dysfunctions in MORC4 could be linked to various cancers and developmental disorders, making it a focus in the study of gene regulation and cancer biology.
NUP62CL (Nucleoporin 62 C-Terminal Like): NUP62CL is a gene involved in the nuclear pore complex, a critical structure in the nuclear envelope that regulates the transport of molecules between the nucleus and cytoplasm. Alterations in NUP62CL can affect nuclear transport and have potential implications in neurodegenerative diseases and cancers.
PRSS1 (Protease, Serine 1): PRSS1 encodes for trypsin, a digestive enzyme produced in the pancreas. Mutations in this gene can lead to hereditary pancreatitis, a condition characterized by recurrent episodes of pancreatic inflammation. Understanding PRSS1 is crucial for insights into pancreatic function and the management of pancreatic disorders.
PWWP3B (PWWP Domain Containing 3B): PWWP3B is a gene involved in chromatin organization and gene regulation. The PWWP domain suggests a role in epigenetic regulation. Dysfunction in PWWP3B could potentially be linked to developmental disorders and cancers, given its role in gene expression regulation.
RADX (RADX DNA Repair Helicase): RADX is involved in DNA repair, particularly in maintaining genomic stability during DNA replication. It plays a role in the response to DNA damage and is crucial for preventing genomic instability, a key factor in cancer development. RADX is significant in understanding the mechanisms of DNA repair and in cancer research.
RNF128 (Ring Finger Protein 128): RNF128 is a gene encoding an E3 ubiquitin-protein ligase, which is involved in the ubiquitin-proteasome system, a key pathway in protein degradation. It plays a role in immune regulation and has been implicated in autoimmune diseases. Research on RNF128 is important for understanding immune responses and autoimmunity.
SLC25A34 (Solute Carrier Family 25 Member 34): SLC25A34 belongs to the solute carrier family, which is involved in the transport of various molecules across cellular membranes. The specific function of SLC25A34 is not well understood, but members of this family are crucial for metabolic processes and cellular homeostasis. Studying this gene could provide insights into metabolic disorders and cellular transport mechanisms.
SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5): SPINK5 is a crucial gene for skin integrity and immune response, encoding a serine protease inhibitor that regulates the activity of various enzymes in the skin. Mutations in SPINK5 are associated with Netherton syndrome, a severe skin disorder characterized by inflammation, scaling, and increased allergy susceptibility. Its study is vital for understanding skin diseases and developing potential treatments for disorders related to skin barrier dysfunction.
STK32A (Serine/Threonine Kinase 32A): STK32A encodes a serine/threonine kinase, a type of enzyme that modifies other proteins by chemically adding phosphate groups. These kinases are involved in various cellular processes, including signaling, cell cycle control, and apoptosis. The specific role of STK32A in these processes remains an area of active research, with implications for understanding cell regulation and potential roles in diseases like cancer.
Gluten Sensitivity (Celiac)
Psoriasis
CAVIN1COG6DDX58ETS1IFIH1IFNLR1IL12BIL13LCE3CPPP2R3CRELSLC44A2SPATA2STAT3TNFAIP3TNIP1TP63ZNF816
CAVIN1 (Caveolae Associated Protein 1): CAVIN1 is essential for the formation and function of caveolae, small invaginations in the plasma membrane involved in various cellular processes, including endocytosis and signal transduction. It plays a role in lipid metabolism, endothelial function, and mechanoprotection of cells. Mutations in CAVIN1 have been linked to diseases such as lipodystrophy and muscular dystrophies, highlighting its importance in cell structure and metabolism.
COG6 (Component Of Oligomeric Golgi Complex 6): COG6 is part of the COG complex, which is crucial for normal Golgi function and vesicular trafficking. It's involved in the maintenance of Golgi structure and the proper glycosylation of proteins, a critical post-translational modification process. Mutations in COG6 can lead to congenital disorders of glycosylation, which are characterized by a wide range of clinical symptoms, including developmental delay and neurological issues.
DDX58 (DExD/H-Box Helicase 58): DDX58, also known as RIG-I, is a key receptor in the innate immune system that recognizes viral RNA. It plays a pivotal role in the antiviral response by inducing the production of interferons and other inflammatory cytokines upon detection of viral replication. DDX58 is essential for the early immune response to a wide range of RNA viruses.
ETS1 (ETS Proto-Oncogene 1, Transcription Factor): ETS1 is a member of the ETS family of transcription factors, involved in the regulation of various genes, particularly those involved in immune response, cell growth, and development. It plays a role in angiogenesis, lymphocyte development, and tumorigenesis, and has been implicated in various cancers and autoimmune diseases.
IFIH1 (Interferon Induced With Helicase C Domain 1): IFIH1, also known as MDA5, is an intracellular sensor of viral RNA. It plays a critical role in the innate immune defense against RNA viruses by recognizing viral replication and initiating an immune response. Mutations in IFIH1 have been associated with autoimmune disorders such as type I diabetes and systemic lupus erythematosus.
IFNLR1 (Interferon Lambda Receptor 1): IFNLR1 is the receptor for interferon lambda, a type of interferon involved in the immune response to viral infections. It plays a role in antiviral defense, particularly in the respiratory and gastrointestinal tracts. IFNLR1 signaling is important for the control of viral infections while minimizing tissue damage due to inflammation.
IL12B (Interleukin 12B): IL12B is a gene that encodes the p40 subunit of interleukin-12 (IL-12), a cytokine involved in immune responses. IL-12 plays a critical role in stimulating the immune system's activity against infections and tumors by promoting the production of interferon-gamma (IFN-γ) and the activation of T cells and natural killer (NK) cells.
IL13 (Interleukin 13): IL13 is a cytokine involved in the regulation of immune responses, particularly in allergic inflammation and asthma. It plays a role in the modulation of antibody production and in the regulation of inflammatory responses, especially in allergic diseases and in the defense against parasitic infections.
LCE3C (Late Cornified Envelope 3C): LCE3C is part of the late cornified envelope gene cluster, which plays a role in the formation of the cornified envelope in the epidermis, a structure important for skin barrier function. Variations in this gene have been associated with skin disorders, including psoriasis, reflecting its role in skin integrity and immune response in the skin.
PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma): This gene encodes a regulatory subunit of the protein phosphatase 2 (PP2A) complex, which is a serine/threonine phosphatase involved in the control of cell growth and division. PPP2R3C modulates the activity of PP2A, influencing various signaling pathways related to cellular stress responses, DNA damage repair, and apoptosis. Its role is critical in maintaining cellular homeostasis and in the regulation of cell cycle checkpoints.
REL (REL Proto-Oncogene, NF-KB Subunit): REL is part of the NF-kappaB family of transcription factors, which play a pivotal role in immune and inflammatory responses, as well as in cell growth and survival. REL is involved in the regulation of genes that control cell proliferation and apoptosis, and its dysregulation has been implicated in various inflammatory diseases and cancers, particularly lymphomas.
SLC44A2 (Solute Carrier Family 44 Member 2): SLC44A2 is involved in choline transport and is implicated in the modulation of immune responses and inflammation. It has been identified as a risk factor for venous thromboembolism and has a role in neutrophil migration and activation. The study of SLC44A2 is important for understanding its contributions to thrombotic disorders and immune system regulation, offering potential targets for therapeutic interventions in inflammatory and thrombotic diseases.
SPATA2 (Spermatogenesis Associated 2): SPATA2 is involved in the regulation of cell death and inflammation through its role in the TNF receptor signaling pathway. It facilitates the recruitment of key enzymes to signaling complexes, crucial for the activation of cell death and inflammatory responses. Research on SPATA2 is focused on understanding its role in spermatogenesis, cell death, and inflammation, with implications for diseases where these processes are dysregulated.
STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a critical transcription factor involved in various cellular processes, including cell growth, differentiation, and apoptosis. It plays a significant role in the immune response and is heavily implicated in cancer biology, with dysregulation of STAT3 being linked to a variety of cancers and other diseases.
TNFAIP3 (TNF Alpha Induced Protein 3): Also known as A20, TNFAIP3 is a critical negative regulator of NF-kB signaling and plays a pivotal role in controlling inflammation and immune responses. It acts by ubiquitinating signaling molecules to terminate NF-kB activation, thus preventing prolonged inflammatory responses that can lead to autoimmune diseases. Mutations or dysregulation of TNFAIP3 are associated with several autoimmune and inflammatory diseases, making it a key target for therapeutic research.
TNIP1 (TNFAIP3 Interacting Protein 1): TNIP1 works closely with TNFAIP3 to inhibit NF-kB activation and modulate immune responses. It is essential for maintaining immune homeostasis and preventing autoimmunity. Dysregulation of TNIP1 has been linked to various autoimmune conditions, highlighting its importance in immune regulation. Research on TNIP1 focuses on its potential role in the development and treatment of autoimmune diseases.
TP63 (Tumor Protein P63): TP63 is a member of the p53 family of transcription factors, playing a key role in the development and maintenance of epithelial tissues, as well as in cell cycle regulation and apoptosis. It has distinct roles in embryonic development, stem cell maintenance, and tumorigenesis. Mutations in TP63 can lead to a range of developmental disorders and have been implicated in cancer. Studies aim to understand TP63's dual roles in normal cellular functions and disease states.
ZNF816 (Zinc Finger Protein 816): ZNF816 belongs to the family of zinc finger proteins, which are involved in DNA binding and gene transcription regulation. Although specific functions of ZNF816 are less characterized, zinc finger proteins play crucial roles in developmental processes, cellular differentiation, and the regulation of gene expression. Research on ZNF816 and similar proteins aims to uncover their contributions to cellular processes and their potential links to diseases, including cancer and genetic disorders.
Eczema
ADOARHGAP27D2HGDHFLGID2LRRC32MDM1NCF4OVOL1PPP2R3CPRR5LRUNX3SATB1STMN3TNFSF18TREHTRIB1
ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes the adenosine deaminase enzyme, specifically for RNA. This enzyme catalyzes the conversion of adenosine to inosine in RNA molecules, which can impact RNA stability, function, and regulation. ADO plays a critical role in RNA editing processes that contribute to the diversity and functionality of RNA molecules.
ARHGAP27 (Rho GTPase Activating Protein 27): ARHGAP27 plays a role in actin cytoskeleton remodeling, cell morphology, and motility through its regulation of Rho GTPases. These GTPases are key regulators of cellular processes such as vesicle trafficking, cell cycle progression, and gene transcription. ARHGAP27's function in modulating cell adhesion and migration is particularly relevant in tissue development and wound healing, as well as in tumor progression and metastasis.
D2HGDH (D-2-Hydroxyglutarate Dehydrogenase): D2HGDH is a mitochondrial enzyme crucial in the metabolism of D-2-hydroxyglutarate, a byproduct of cellular metabolism. Its role is to prevent the accumulation of D-2-hydroxyglutarate, which can be harmful in high concentrations. Dysregulation of this enzyme leads to D-2-hydroxyglutaric aciduria, characterized by a wide range of clinical symptoms including developmental delay, epilepsy, and cardiomyopathy.
FLG (Filaggrin): FLG encodes a protein crucial for skin barrier function. Mutations in FLG are strongly associated with skin conditions like atopic dermatitis (eczema) and can increase the risk of other allergic diseases.
ID2 (Inhibitor Of DNA Binding 2, HLH Protein): ID2 plays a regulatory role in cell differentiation and proliferation by inhibiting the binding of basic helix-loop-helix transcription factors. This inhibition is crucial in various developmental processes, including neurogenesis, immune system development, and cellular senescence. ID2 has also been implicated in the regulation of cancer cell growth and metastasis.
LRRC32 (Leucine Rich Repeat Containing 32): LRRC32, also known as GARP, is involved in the regulation of immune responses, particularly in T-regulatory cells. It plays a role in maintaining immune tolerance and preventing autoimmune reactions.
MDM1 (MDM1 Nuclear Protein Homolog): MDM1 is a nuclear protein with a speculated role in the regulation of chromosomal integrity during cell division. It may be involved in DNA repair mechanisms or in the response to DNA damage. The precise cellular functions of MDM1 remain a subject of ongoing research, particularly in the context of cell cycle regulation.
NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a component of the NADPH oxidase complex, playing an essential role in the immune defense against pathogens. It participates in the generation of reactive oxygen species in phagocytes, which is crucial for the microbial killing. Mutations in NCF4 have been associated with chronic granulomatous disease, characterized by recurrent bacterial and fungal infections.
OVOL1 (Ovo Like Transcriptional Repressor 1): OVOL1 encodes a transcriptional repressor that is involved in the regulation of gene expression during development and tissue differentiation. It plays a role in epithelial cell differentiation and barrier formation.
PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma): This gene encodes a regulatory subunit of the protein phosphatase 2 (PP2A) complex, which is a serine/threonine phosphatase involved in the control of cell growth and division. PPP2R3C modulates the activity of PP2A, influencing various signaling pathways related to cellular stress responses, DNA damage repair, and apoptosis. Its role is critical in maintaining cellular homeostasis and in the regulation of cell cycle checkpoints.
PRR5L (Proline Rich 5 Like): PRR5L is associated with the mechanistic target of rapamycin (mTOR) complex, which regulates cell growth, proliferation, and survival in response to nutrient availability and other environmental cues. PRR5L influences mTOR complex 2 (mTORC2) activity, impacting processes like insulin signaling, cytoskeletal organization, and cell survival. Dysregulation of mTOR signaling pathways, including those involving PRR5L, is implicated in various diseases, including cancer and metabolic disorders.
RUNX3 (Runt-Related Transcription Factor 3): RUNX3 is a transcription factor involved in the regulation of gene expression. It plays a role in various cellular processes, including cell differentiation and immune response. Dysregulation of RUNX3 has been associated with cancer and developmental disorders.
SATB1 (SATB Homeobox 1): SATB1 is a DNA-binding protein that regulates chromatin architecture and gene expression, particularly in T lymphocytes. It organizes the nuclear architecture by anchoring chromatin loops and regulates the expression of a large number of genes involved in T cell development and function. Altered SATB1 expression is associated with various cancers and is involved in the regulation of immune responses.
STMN3 (Stathmin 3): STMN3 is a microtubule-destabilizing protein that plays a role in regulating microtubule dynamics, which is essential for processes such as cell division, intracellular transport, and cell motility. In neurons, STMN3 is involved in the regulation of axonal growth and synaptic function, and its dysregulation has implications for neurodevelopmental and neurodegenerative disorders.
TNFSF18 (TNF Superfamily Member 18): Also known as GITR ligand, TNFSF18 is involved in modulating immune responses. It binds to GITR on T cells and regulatory T cells, enhancing the effector T cell response while inhibiting the function of regulatory T cells. This dual role makes TNFSF18 an important target in cancer immunotherapy and in the treatment of autoimmune diseases.
TREH (Trehalase): TREH encodes the enzyme trehalase, which is involved in the hydrolysis of trehalose, a disaccharide sugar. Trehalase is important for carbohydrate metabolism, particularly in the gut where trehalose is broken down. Deficiencies in trehalase activity can lead to trehalose intolerance, characterized by gastrointestinal symptoms following trehalose ingestion.
TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. Tribbles proteins are involved in the regulation of various signaling pathways, including those related to cellular growth, metabolism, and inflammation. TRIB1 has been associated with lipid metabolism, cardiovascular diseases, and cancer. Its intricate roles in these processes are areas of ongoing research.
Allergies
CCR7GSDMBHLA-DQA1IL13IL1RL1IL2RAIL33IRF4KIAA1109LRRC32LPPNFATC2OVOL1PTGER4RUNX3SH2B3STAT6TLR1TSLP
CCR7 (C-C Motif Chemokine Receptor 7): CCR7 is a crucial receptor in the immune system, guiding the migration of T cells and dendritic cells to lymphoid tissues, where immune responses are coordinated. This receptor's interaction with its ligands, CCL19 and CCL21, is essential for initiating adaptive immune responses and maintaining immune surveillance. Dysregulation of CCR7 has been implicated in various autoimmune diseases and cancers, making it a target for immunotherapy and cancer treatment research.
GSDMB (Gasdermin B): GSDMB is part of the gasdermin family, which is involved in the regulation of cell death and inflammation. It has been associated with susceptibility to asthma and autoimmune diseases. GSDMB's role in inflammatory responses makes it a potential target for therapeutic interventions in these conditions.
HLA-DQA1 (Human Leukocyte Antigen DQ Alpha 1 Chain): Part of the MHC class II molecule complex, HLA-DQA1 plays a pivotal role in the immune system by presenting peptide antigens to CD4+ T cells. This process is critical for the activation of the adaptive immune response against pathogens. Variations in the HLA-DQA1 gene are associated with susceptibility to several autoimmune diseases, such as type 1 diabetes and celiac disease, reflecting its importance in immune regulation and disease predisposition.
IL13 (Interleukin 13): IL13 is a cytokine involved in the regulation of immune responses, particularly in allergic inflammation and asthma. It plays a role in the modulation of antibody production and in the regulation of inflammatory responses, especially in allergic diseases and in the defense against parasitic infections.
IL1RL1 (Interleukin 1 Receptor Like 1): Also known as ST2, IL1RL1 is a receptor for interleukin 33 (IL-33). It acts in the immune response by mediating the effects of IL-33, a cytokine involved in inflammation and allergic reactions. IL1RL1 is significant in the pathogenesis of asthma, atopic dermatitis, and other allergic diseases. Understanding its role in the IL-33 signaling pathway offers potential therapeutic targets for treating allergic and inflammatory conditions.
IL2RA (Interleukin 2 Receptor Alpha): IL2RA, also known as CD25, is part of the receptor complex for interleukin-2, a cytokine that plays a central role in T-cell proliferation and differentiation. This receptor is crucial for the regulation of the immune response, including the development and function of regulatory T cells that prevent autoimmune diseases. Dysregulation of IL2RA or its pathway can lead to autoimmune conditions and is a focus for immunotherapy, particularly in cancer and transplant medicine.
IL33 (Interleukin 33): IL33 is a cytokine that belongs to the IL-1 family, acting as an alarm signal when released by cells under stress or injury. It binds to the ST2 receptor, triggering inflammatory responses and playing a key role in allergies, asthma, and other types of inflammatory diseases. Research into IL33 focuses on its dual role in promoting inflammation and in protecting against diseases, with potential for therapeutic interventions in chronic inflammation and immune dysregulation.
IRF4 (Interferon Regulatory Factor 4): IRF4 is a transcription factor involved in the immune response, particularly in the regulation of B and T lymphocyte function. It plays a critical role in the differentiation of immune cells and is implicated in various autoimmune and inflammatory diseases, as well as in certain types of leukemia and lymphoma.
KIAA1109: KIAA1109 is a gene associated with a broad range of autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. While its specific function is not fully understood, it is believed to play a role in immune regulation and inflammatory responses. The study of KIAA1109 is significant for understanding the genetic basis of autoimmune disorders and for developing targeted therapies.
LRRC32 (Leucine Rich Repeat Containing 32): LRRC32, also known as GARP, is involved in the regulation of immune responses, particularly in T-regulatory cells. It plays a role in maintaining immune tolerance and preventing autoimmune reactions.
LPP (LIM Domain Containing Preferred Translocation Partner in Lipoma): LPP is involved in cytoskeletal organization and cell adhesion processes. It plays a role in cell migration, proliferation, and differentiation, being implicated in the regulation of gene expression through its interaction with transcription factors. Alterations in the LPP gene have been associated with the development of lipomas and other tumors, indicating its potential role in cancer development and progression.
NFATC2 (Nuclear Factor Of Activated T-Cells 2): NFATC2 is a transcription factor that plays a key role in the immune response. It is activated in T cells in response to signals that increase intracellular calcium levels, leading to its translocation to the nucleus where it can influence the expression of genes involved in T cell activation and differentiation. NFATC2 is crucial for the development of the immune system and the regulation of immune responses. Dysregulation of NFATC2 has been associated with autoimmune diseases and immunodeficiency.
OVOL1 (Ovo Like Transcriptional Repressor 1): OVOL1 encodes a transcriptional repressor that is involved in the regulation of gene expression during development and tissue differentiation. It plays a role in epithelial cell differentiation and barrier formation.
PTGER4 (Prostaglandin E Receptor 4): PTGER4 is a gene that encodes a receptor for prostaglandin E2 (PGE2), a lipid mediator involved in inflammation and immune responses. PTGER4 activation influences various cellular functions, including immune cell activation and cytokine production. It plays a role in modulating inflammation and has been studied in the context of autoimmune and inflammatory diseases.
RUNX3 (Runt-Related Transcription Factor 3): RUNX3 is a transcription factor involved in the regulation of gene expression. It plays a role in various cellular processes, including cell differentiation and immune response. Dysregulation of RUNX3 has been associated with cancer and developmental disorders.
SH2B3 (SH2B Adaptor Protein 3): SH2B3, also known as LNK, is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a crucial role in maintaining hematopoietic stem cell homeostasis and regulating immune responses. SH2B3 mutations are associated with a variety of hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, underscoring its importance in blood cell development and immune regulation.
STAT6 (Signal Transducer and Activator of Transcription 6): STAT6 is a transcription factor that is activated by IL4 and IL13 signaling, playing a pivotal role in the development of Th2 cells and the regulation of allergic inflammation. It mediates the expression of genes involved in IgE production, mucus production, and eosinophil recruitment. Dysregulation of STAT6 signaling is implicated in the pathogenesis of allergic diseases, such as asthma and atopic dermatitis.
TLR1 (Toll-Like Receptor 1): TLR1 is part of the toll-like receptor family, crucial in the innate immune system. It recognizes pathogen-associated molecular patterns and helps initiate immune responses. Variations in TLR1 can influence susceptibility to infectious diseases.
TSLP (Thymic Stromal Lymphopoietin): TSLP is a cytokine that plays an important role in the initiation of allergic inflammation and the regulation of immune responses at the epithelial barrier. It acts on dendritic cells, triggering a Th2-biased immune response, which is critical in the development of allergic diseases, including asthma, atopic dermatitis, and eosinophilic esophagitis. Research into TSLP focuses on its potential as a target for treating various allergic disorders, understanding its mechanism can lead to innovative therapies for these conditions.
Food Allergies
BMPR1BFHITFLGGSTP1HLA-DPA1HLA-DRAKIZLINGO4LRRC32SERPINB10SPINK6TLR1TMEM243
BMPR1B (Bone Morphogenetic Protein Receptor Type 1B): BMPR1B is a receptor for bone morphogenetic proteins, involved in bone formation and development. It plays a role in cell growth and differentiation and has been studied in relation to skeletal disorders and cancers.
FHIT (Fragile Histidine Triad Diadenosine Triphosphatase): FHIT is a tumor suppressor gene involved in purine metabolism. Loss or alteration of this gene has been linked to a variety of cancers, indicating its role in tumor suppression.
FLG (Filaggrin): FLG encodes a protein crucial for skin barrier function. Mutations in FLG are strongly associated with skin conditions like atopic dermatitis (eczema) and can increase the risk of other allergic diseases.
GSTP1 (Glutathione S-Transferase Pi 1): GSTP1 plays a role in detoxification processes by conjugating reduced glutathione to a wide variety of exogenous and endogenous compounds. Polymorphisms in GSTP1 are associated with susceptibility to cancer and other diseases where detoxification is a factor.
HLA-DPA1 (Major Histocompatibility Complex, Class II, DP Alpha 1): The HLA-DPA1 gene is a part of the human leukocyte antigen (HLA) system, which plays a critical role in the immune system. Specifically, this gene is involved in the presentation of peptides derived from extracellular proteins to T cells. Its importance lies in immune response regulation and its association with various autoimmune diseases. The diversity of alleles in the HLA-DPA1 gene is key to the adaptive immune response, making it a significant focus in transplant medicine, autoimmune disease research, and vaccine response studies.
HLA-DRA (Major Histocompatibility Complex, Class II, DR Alpha): HLA-DRA is a key gene in the MHC class II complex, crucial for the immune response. It presents peptides derived from extracellular proteins to T cells, and variations in this gene can affect immune system function and susceptibility to autoimmune diseases.
KIZ (Kizuna Centrosomal Protein): KIZ encodes a protein involved in centrosome integrity and spindle formation during cell division. It is important for maintaining genomic stability, and disruptions in KIZ function can contribute to developmental disorders and cancer.
LINGO4 (Leucine Rich Repeat And Ig Domain Containing 4): LINGO4 is a member of the LINGO family and is involved in neural development and regeneration. Its role is not fully understood, but it may be implicated in neurodegenerative diseases and neural repair mechanisms.
LRRC32 (Leucine Rich Repeat Containing 32): LRRC32, also known as GARP, is involved in the regulation of immune responses, particularly in T-regulatory cells. It plays a role in maintaining immune tolerance and preventing autoimmune reactions.
SERPINB10 (Serpin Family B Member 10): SERPINB10 is a member of the serpin family of protease inhibitors and plays a role in regulating protease activity in various biological processes. Its specific functions and implications in human disease are not fully understood.
SPINK6 (Serine Peptidase Inhibitor, Kazal Type 6): SPINK6 is involved in skin barrier function and has been implicated in skin diseases. It acts as an inhibitor of serine proteases, which are important for various physiological processes including inflammation and immune response.
TLR1 (Toll-Like Receptor 1): TLR1 is part of the toll-like receptor family, crucial in the innate immune system. It recognizes pathogen-associated molecular patterns and helps initiate immune responses. Variations in TLR1 can influence susceptibility to infectious diseases.
TMEM243 (Transmembrane Protein 243): The function of TMEM243 is not well characterized. It is a transmembrane protein, and like many such proteins, it may be involved in cellular signaling or transport processes.
Egg Allergy
ADAMTS8ARHGAP32BMPR1BCSGALNACT1GNB5HSPA13ID4IRX2LINGO4LPIN2LRRC32SERPINB10SHQ1SLC35F2XXYLT1
ADAMTS8 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 8): ADAMTS8 is an enzyme that plays a role in the extracellular matrix's remodeling, crucial for tissue development and repair. It is involved in processes such as angiogenesis and can act as an anti-angiogenic factor, potentially inhibiting tumor growth and metastasis. The study of ADAMTS8 focuses on its implications in cancer and vascular diseases, exploring its function as a mediator in pathological processes.
ARHGAP32 (Rho GTPase Activating Protein 32): ARHGAP32 is involved in the regulation of the Rho family of GTPases, key molecules in controlling cell shape, attachment, and motility. It plays a significant role in the dynamics of the actin cytoskeleton, affecting cellular processes like migration and proliferation. ARHGAP32's function is of interest in the context of neurological development and disorders, as well as in cancer, where cell migration and invasion are critical.
BMPR1B (Bone Morphogenetic Protein Receptor Type 1B): BMPR1B is a receptor for bone morphogenetic proteins, involved in bone formation and development. It plays a role in cell growth and differentiation and has been studied in relation to skeletal disorders and cancers.
CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1): This gene is involved in the biosynthesis of chondroitin sulfate, a key component of the extracellular matrix in cartilage. It plays an important role in cartilage formation and joint function, and alterations in its activity are associated with skeletal disorders and joint diseases.
GNB5 (G Protein Subunit Beta 5): GNB5 is a component of heterotrimeric G proteins, which mediate various cellular responses to external stimuli through signal transduction pathways. It is involved in regulating heart rate, vision, and neurotransmission, highlighting its importance in both the central and peripheral nervous systems. Mutations in GNB5 are associated with arrhythmias and neurodevelopmental disorders, making it a key subject for studies on signal transduction and its related pathologies.
HSPA13 (Heat Shock Protein Family A (Hsp70) Member 13): HSPA13 is a member of the heat shock protein family, known for their role in protecting cells from stress conditions by facilitating protein folding, repair, and degradation. Its specific functions are less understood, but it is believed to be involved in cellular stress response and may play a role in cancer and neurodegenerative diseases, where protein misfolding and cellular stress mechanisms are disrupted.
ID4 (Inhibitor Of DNA Binding 4, HLH Protein): ID4 acts as a regulator of gene transcription and is involved in the control of cell differentiation and proliferation. It is part of the ID protein family, which plays roles in the regulation of a wide range of developmental processes by inhibiting the binding of basic helix-loop-helix (bHLH) transcription factors. ID4 is implicated in the pathogenesis of several types of cancer, where it may act as a tumor suppressor or oncogene, depending on the context. The study of ID4 offers insights into cellular differentiation, stem cell biology, and cancer.
IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor part of the Iroquois homeobox gene family, playing a significant role in embryonic development. It's involved in the patterning and morphogenesis of various tissues, including the heart and neural tissues. Dysregulation of IRX2 has been implicated in developmental disorders and potentially in cancer.
LINGO4 (Leucine Rich Repeat And Ig Domain Containing 4): LINGO4 is a member of the LINGO family and is involved in neural development and regeneration. Its role is not fully understood, but it may be implicated in neurodegenerative diseases and neural repair mechanisms.
LPIN2 (Lipin 2): LPIN2 is crucial for lipid metabolism and energy production, playing a significant role in the conversion of phosphatidic acid to diacylglycerol, a key step in triglyceride and phospholipid synthesis. It's also involved in the regulation of gene expression related to lipid metabolism and inflammation. Mutations in LPIN2 are associated with Majeed syndrome, characterized by chronic recurrent multifocal osteomyelitis, dermatitis, and dyserythropoietic anemia, highlighting its importance in both metabolic processes and immune regulation.
LRRC32 (Leucine Rich Repeat Containing 32): LRRC32, also known as GARP, is involved in the regulation of immune responses, particularly in T-regulatory cells. It plays a role in maintaining immune tolerance and preventing autoimmune reactions.
SERPINB10 (Serpin Family B Member 10): SERPINB10 is a member of the serpin family of protease inhibitors and plays a role in regulating protease activity in various biological processes. Its specific functions and implications in human disease are not fully understood.
SHQ1 (SHQ1, H/ACA Ribonucleoprotein Assembly Factor): SHQ1 is a crucial assembly factor for H/ACA ribonucleoproteins (RNPs), which are involved in the processing and modification of RNA. This includes the maturation of rRNA, snRNA, and the stabilization of telomerase RNA component (TERC). SHQ1 plays a vital role in the biogenesis of H/ACA RNPs, essential for proper cell function and maintenance of genomic stability. Disruptions in SHQ1 function can lead to defects in RNA processing and are implicated in various cellular dysfunctions.
SLC35F2 (Solute Carrier Family 35 Member F2): SLC35F2 encodes a member of the solute carrier family involved in the transport of nucleotide sugars across the Golgi membrane, critical for glycosylation processes. Glycosylation is essential for the proper function of many proteins and lipids, impacting cell-cell communication, immunity, and pathogen recognition. The specific substrates and biological roles of SLC35F2 are subjects of ongoing research, with implications for understanding diseases related to glycosylation disorders.
XXYLT1 (Xyloside Xylosyltransferase 1): XXYLT1 is involved in the post-translational modification of proteins through the addition of xylose to the serine residues of proteoglycans, a key step in the biosynthesis of glycosaminoglycan chains. This modification is crucial for the function of proteoglycans in the extracellular matrix, affecting cell signaling, adhesion, and migration. Mutations in XXYLT1 can disrupt proteoglycan function and have been linked to developmental abnormalities, underscoring its importance in cellular function and development.
Peanut Allergy
ARHGAP32GNB5HLA-DPA1HLA-DQA1HLA-DRAKIZLINGO4LPIN2LRRC32PTGER4SERPINB10SLC35F2STAT6TSLP
ARHGAP32 (Rho GTPase Activating Protein 32): ARHGAP32 is involved in the regulation of the Rho family of GTPases, key molecules in controlling cell shape, attachment, and motility. It plays a significant role in the dynamics of the actin cytoskeleton, affecting cellular processes like migration and proliferation. ARHGAP32's function is of interest in the context of neurological development and disorders, as well as in cancer, where cell migration and invasion are critical.
GNB5 (G Protein Subunit Beta 5): GNB5 is a component of heterotrimeric G proteins, which mediate various cellular responses to external stimuli through signal transduction pathways. It is involved in regulating heart rate, vision, and neurotransmission, highlighting its importance in both the central and peripheral nervous systems. Mutations in GNB5 are associated with arrhythmias and neurodevelopmental disorders, making it a key subject for studies on signal transduction and its related pathologies.
HLA-DPA1 (Major Histocompatibility Complex, Class II, DP Alpha 1): The HLA-DPA1 gene is a part of the human leukocyte antigen (HLA) system, which plays a critical role in the immune system. Specifically, this gene is involved in the presentation of peptides derived from extracellular proteins to T cells. Its importance lies in immune response regulation and its association with various autoimmune diseases. The diversity of alleles in the HLA-DPA1 gene is key to the adaptive immune response, making it a significant focus in transplant medicine, autoimmune disease research, and vaccine response studies.
HLA-DQA1 (Human Leukocyte Antigen DQ Alpha 1 Chain): Part of the MHC class II molecule complex, HLA-DQA1 plays a pivotal role in the immune system by presenting peptide antigens to CD4+ T cells. This process is critical for the activation of the adaptive immune response against pathogens. Variations in the HLA-DQA1 gene are associated with susceptibility to several autoimmune diseases, such as type 1 diabetes and celiac disease, reflecting its importance in immune regulation and disease predisposition.
HLA-DRA (Major Histocompatibility Complex, Class II, DR Alpha): HLA-DRA is a key gene in the MHC class II complex, crucial for the immune response. It presents peptides derived from extracellular proteins to T cells, and variations in this gene can affect immune system function and susceptibility to autoimmune diseases.
KIZ (Kizuna Centrosomal Protein): KIZ encodes a protein involved in centrosome integrity and spindle formation during cell division. It is important for maintaining genomic stability, and disruptions in KIZ function can contribute to developmental disorders and cancer.
LINGO4 (Leucine Rich Repeat And Ig Domain Containing 4): LINGO4 is a member of the LINGO family and is involved in neural development and regeneration. Its role is not fully understood, but it may be implicated in neurodegenerative diseases and neural repair mechanisms.
LPIN2 (Lipin 2): LPIN2 is crucial for lipid metabolism and energy production, playing a significant role in the conversion of phosphatidic acid to diacylglycerol, a key step in triglyceride and phospholipid synthesis. It's also involved in the regulation of gene expression related to lipid metabolism and inflammation. Mutations in LPIN2 are associated with Majeed syndrome, characterized by chronic recurrent multifocal osteomyelitis, dermatitis, and dyserythropoietic anemia, highlighting its importance in both metabolic processes and immune regulation.
LRRC32 (Leucine Rich Repeat Containing 32): LRRC32, also known as GARP, is involved in the regulation of immune responses, particularly in T-regulatory cells. It plays a role in maintaining immune tolerance and preventing autoimmune reactions.
PTGER4 (Prostaglandin E Receptor 4): PTGER4 is a gene that encodes a receptor for prostaglandin E2 (PGE2), a lipid mediator involved in inflammation and immune responses. PTGER4 activation influences various cellular functions, including immune cell activation and cytokine production. It plays a role in modulating inflammation and has been studied in the context of autoimmune and inflammatory diseases.
SERPINB10 (Serpin Family B Member 10): SERPINB10 is a member of the serpin family of protease inhibitors and plays a role in regulating protease activity in various biological processes. Its specific functions and implications in human disease are not fully understood.
SLC35F2 (Solute Carrier Family 35 Member F2): SLC35F2 encodes a member of the solute carrier family involved in the transport of nucleotide sugars across the Golgi membrane, critical for glycosylation processes. Glycosylation is essential for the proper function of many proteins and lipids, impacting cell-cell communication, immunity, and pathogen recognition. The specific substrates and biological roles of SLC35F2 are subjects of ongoing research, with implications for understanding diseases related to glycosylation disorders.
STAT6 (Signal Transducer and Activator of Transcription 6): STAT6 is a transcription factor that is activated by IL4 and IL13 signaling, playing a pivotal role in the development of Th2 cells and the regulation of allergic inflammation. It mediates the expression of genes involved in IgE production, mucus production, and eosinophil recruitment. Dysregulation of STAT6 signaling is implicated in the pathogenesis of allergic diseases, such as asthma and atopic dermatitis.
TSLP (Thymic Stromal Lymphopoietin): TSLP is a cytokine that plays an important role in the initiation of allergic inflammation and the regulation of immune responses at the epithelial barrier. It acts on dendritic cells, triggering a Th2-biased immune response, which is critical in the development of allergic diseases, including asthma, atopic dermatitis, and eosinophilic esophagitis. Research into TSLP focuses on its potential as a target for treating various allergic disorders, understanding its mechanism can lead to innovative therapies for these conditions.
Flu
BSNC8ORF37CNIH3COL13A1DRD1FAM216BFRYGLRBIL5RANVLPAPPASRPK2TRPS1TTC39CUBE4BZFATZFPM1
BSN (Bassoon Presynaptic Cytomatrix Protein): BSN is crucial for the proper assembly of active zones at synaptic terminals, facilitating neurotransmitter release. This protein's role in the structural organization of synapses is vital for synaptic transmission and plasticity, impacting learning and memory. Alterations in BSN function or expression can influence neurological function and have been associated with various neuropsychiatric disorders.
C8ORF37 (Chromosome 8 Open Reading Frame 37): C8ORF37 is a gene associated with retinal dystrophies and Bardet-Biedl syndrome, a disorder characterized by vision loss, obesity, and other symptoms. Mutations in this gene can lead to retinal degeneration and impaired ciliary function, highlighting its role in photoreceptor cell maintenance and cilia-related processes.
CNIH3 (Cornichon Family AMPA Receptor Auxiliary Protein 3): CNIH3 is involved in regulating the trafficking and function of AMPA receptors, which are essential for fast synaptic transmission in the central nervous system. By modulating AMPA receptor activity, CNIH3 plays a role in synaptic plasticity, learning, and memory. Dysregulation of CNIH3 has implications for neurological disorders, including cognitive impairments and epilepsy.
COL13A1 (Collagen Type XIII Alpha 1 Chain): COL13A1 encodes a transmembrane collagen that contributes to the organization and function of connective tissues. It plays a role in cell adhesion, muscle tissue integrity, and the neuromuscular junction's stabilization. Mutations or dysregulation in COL13A1 can lead to muscle disorders and are being studied for their roles in connective tissue diseases and cancer metastasis.
DRD1 (Dopamine Receptor D1): DRD1 is a major dopamine receptor in the brain, playing a key role in the dopaminergic system, which is involved in reward, motivation, and motor control. Dysregulation of DRD1 is implicated in psychiatric disorders like schizophrenia and addictive behaviors.
FAM216B (Family With Sequence Similarity 216 Member B): FAM216B is a lesser-known gene with limited information available. Genes in the FAM216 family are believed to be involved in diverse cellular processes, but the specific function and role of FAM216B in human health and disease are not well characterized.
FRY (FRY Microtubule Binding Protein): FRY is a large protein involved in cell structure organization, particularly in relation to microtubules and cell polarity. It has roles in cellular processes such as migration and division, with implications for development and cancer. Research is focused on understanding FRY's function in normal cellular processes and its potential involvement in tumorigenesis and metastasis.
GLRB (Glycine Receptor Beta Subunit): GLRB is part of the glycine receptor complex, a chloride channel involved in inhibitory neurotransmission in the spinal cord and brainstem. Glycine receptors are critical for motor and sensory functions, and mutations in GLRB can lead to neurological disorders, such as hyperekplexia, which is characterized by an exaggerated startle response. Understanding GLRB's role in neurotransmission provides insights into the mechanisms underlying inhibitory pathways and associated disorders.
IL5RA (Interleukin 5 Receptor Alpha): IL5RA is a component of the receptor for interleukin 5, a cytokine involved in the growth and differentiation of eosinophils. It plays a crucial role in immune responses, particularly in allergic reactions and asthma, where eosinophils are key effector cells. Targeting IL5RA is a therapeutic strategy for diseases characterized by eosinophilia, offering potential treatments for severe asthma and other eosinophil-associated disorders.
NVL (Nuclear VCP-Like): NVL is a member of the AAA-ATPase family and is involved in various cellular processes, including ribosome biogenesis and the response to cellular stress. It has a role in maintaining cellular homeostasis and proper function of the nucleolus.
PAPPA (Pregnancy-Associated Plasma Protein A): PAPPA is a protease that cleaves insulin-like growth factor binding proteins, thereby increasing the availability of insulin-like growth factors (IGFs). It plays a significant role in fetal development and has been used as a biomarker in prenatal screening for aneuploidies. Abnormal levels of PAPPA are associated with adverse pregnancy outcomes, including preeclampsia and intrauterine growth restriction.
SRPK2 (SRSF Protein Kinase 2): SRPK2 is involved in the phosphorylation of serine/arginine-rich proteins that are part of the spliceosome, influencing alternative splicing and gene expression. It plays roles in neuronal function and may be implicated in neurodegenerative diseases through its effects on splicing regulation. Research on SRPK2 aims to understand its contribution to the pathogenesis of diseases like Alzheimer's and its potential as a therapeutic target.
TRPS1 (Tricho-Rhino-Phalangeal Syndrome Type I): TRPS1 is a transcription factor involved in the regulation of growth and development of bone, hair, and connective tissue. Mutations in TRPS1 cause Tricho-Rhino-Phalangeal syndrome, characterized by craniofacial and skeletal abnormalities. Understanding TRPS1's function helps in diagnosing and managing this syndrome, with research focused on elucidating its role in tissue development and differentiation.
TTC39C (Tetratricopeptide Repeat Domain 39C): TTC39C is part of the tetratricopeptide repeat protein family, which is involved in various cellular processes, including the regulation of cholesterol metabolism and transport. Its role is less well characterized but is being studied for potential implications in lipid homeostasis and associated metabolic disorders, such as obesity and cardiovascular disease.
UBE4B (Ubiquitination Factor E4B): UBE4B is involved in the ubiquitin-proteasome system, facilitating the degradation of damaged or misfolded proteins. It plays a role in maintaining protein quality control within cells, with implications for neuronal health and function. Dysregulation of UBE4B has been linked to neurodegenerative diseases, highlighting its importance in cellular stress responses and the potential for targeting in disease therapies.
ZFAT (Zinc Finger And AT-Hook Domain Containing): ZFAT is a transcription factor believed to play a role in immune function and cell survival. It has been implicated in autoimmune diseases and is studied for its role in lymphocyte development and function.
ZFPM1 (Zinc Finger Protein, FOG Family Member 1): ZFPM1, also known as FOG-1, is a cofactor that interacts with GATA family transcription factors, playing a crucial role in the development and differentiation of various cell types, including those in the heart and blood. It is particularly important for erythroid and megakaryocyte differentiation. Mutations or dysregulation of ZFPM1 can affect hematopoiesis, leading to blood disorders. Additionally, ZFPM1's involvement in cardiac development implicates it in congenital heart defects. Research on ZFPM1 focuses on understanding its role in the intricate network of gene regulation governing cell fate decisions, with implications for treating related diseases and developmental disorders.
H. pylori
AKR1E2DOCK10FBOX21FGD4GAREM2HPCAL1IKZF2LGSNMETTL14NFE2PCDH15PDSS1PDZD2RAP2BSIPA1L3VMP1
AKR1E2 (Aldo-Keto Reductase Family 1 Member E2): AKR1E2 is part of the aldo-keto reductase family, which is involved in the detoxification of aldehydes and ketones. The specific function of AKR1E2 is not fully understood, but members of this family play roles in metabolism and the response to oxidative stress. Research into AKR1E2 could provide insights into metabolic disorders and cellular responses to environmental stressors.
DOCK10 (Dedicator Of Cytokinesis 10): DOCK10 is involved in actin cytoskeletal rearrangements and plays a role in immune cell function, particularly in T-cell and B-cell activation and migration. This gene is significant in understanding immune response and has implications in autoimmune diseases and immune deficiencies.
FBOX21 (F-Box Protein 21): FBOX21 is part of the F-box family of proteins, which play critical roles in the ubiquitin-proteasome system for protein degradation. This system is vital for regulating protein levels within the cell, affecting numerous cellular processes such as cell cycle progression, signal transduction, and apoptosis. FBOX21 specifically is involved in targeting proteins for degradation, thereby maintaining cellular homeostasis. Dysregulation of FBOX21 can lead to various diseases, including cancers, where aberrant protein accumulation or degradation contributes to disease pathogenesis.
FGD4 (FYVE, RhoGEF, and PH Domain Containing 4): FGD4 encodes a guanine nucleotide exchange factor that specifically activates Cdc42, a member of the Rho family of GTPases. This activation plays a key role in regulating cytoskeletal organization, cell shape, and migration. Mutations in FGD4 are associated with Charcot-Marie-Tooth disease, a disorder affecting peripheral nerves, highlighting its importance in nerve development and function.
GAREM2 (GRB2 Associated Regulator of MAPK1 Subtype 2): GAREM2 is involved in the regulation of the MAPK/ERK signaling pathway, which is critical for cell proliferation, differentiation, and survival. It plays a role in mediating cellular responses to external stimuli, including growth factors and stress. Understanding GAREM2 is important for its implications in cancer biology, as the MAPK/ERK pathway is often dysregulated in various cancers.
HPCAL1 (Hippocalcin Like 1): HPCAL1 is a calcium-binding protein similar to hippocalcin, involved in neuronal activity and plasticity. It plays a role in the calcium signaling pathways within nerve cells, which are crucial for memory and learning processes. Dysfunctions in HPCAL1 have implications in neurological disorders, particularly those involving cognitive dysfunction.
IKZF2 (IKAROS Family Zinc Finger 2): IKZF2, also known as Helios, is a transcription factor important for the development and differentiation of T cells. It plays a key role in maintaining the regulatory T cell lineage and function, crucial for immune tolerance and preventing autoimmunity. Dysregulation of IKZF2 has been associated with immune system disorders and is being explored for its potential in cancer immunotherapy, given its importance in immune regulation.
LGSN (Lengsin): LGSN is a lens-specific protein involved in the maintenance and regeneration of the lens in the eye. It plays a role in maintaining the transparency and refractive properties of the lens. Mutations in LGSN can lead to cataract formation, making it a significant gene in the study of eye diseases and lens development.
METTL14 (Methyltransferase Like 14): METTL14 is part of the complex involved in N6-methyladenosine (m6A) RNA modification. This modification is crucial for various aspects of RNA metabolism and function. Alterations in METTL14 can impact gene expression regulation and are associated with certain cancers.
NFE2 (Nuclear Factor, Erythroid 2): NFE2 is a transcription factor important in the regulation of genes involved in erythropoiesis, the process of red blood cell production. It plays a key role in the development and maturation of erythroid cells. Mutations or alterations in NFE2 can lead to blood disorders, particularly affecting red blood cell production.
PCDH15 (Protocadherin 15): PCDH15 encodes a member of the protocadherin family, which is involved in cell-cell adhesion and neuronal connectivity. PCDH15 is crucial for the function of sensory hair cells in the inner ear and is associated with hearing impairment and deafness.
PDSS1 (Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 1): PDSS1 is involved in the synthesis of coenzyme Q10, a key molecule in the mitochondrial electron transport chain. It plays a critical role in cellular energy production and antioxidant protection. Dysfunctions in PDSS1 can lead to coenzyme Q10 deficiency, which has implications in various neuromuscular and neurodegenerative diseases.
PDZD2 (PDZ Domain Containing 2): PDZD2 is a multi-PDZ domain protein involved in the organization of protein complexes at the cell membrane, playing a role in signal transduction and cellular communication. It is implicated in various cellular functions, including synaptic signaling in neurons. Dysregulation of PDZD2 may be linked to neurological disorders.
RAP2B (RAP2B, Member of RAS Oncogene Family): RAP2B is a member of the RAS oncogene family, involved in intracellular signaling pathways that regulate cell proliferation, differentiation, and survival. It plays a role in various cellular processes, including cytoskeletal organization and vesicle trafficking. Abnormalities in RAP2B signaling can contribute to the development of cancers.
SIPA1L3 (Signal-Induced Proliferation-Associated 1 Like 3): SIPA1L3 is a gene that plays a role in signal transduction and cellular proliferation. It is particularly important in the nervous system, where it contributes to synaptic regulation and neuronal signaling. Abnormalities in SIPA1L3 have potential implications in neurological disorders, possibly affecting cognitive functions and neurodevelopment.
VMP1 (Vacuole Membrane Protein 1): VMP1 is involved in autophagy, a critical cellular process for degrading and recycling cellular components. It's particularly important for the formation of autophagosomes, structures that encapsulate cellular material for degradation. Dysregulation of VMP1 can impact cellular homeostasis and is implicated in various diseases, including pancreatitis and some forms of cancer.
Urinary Tract Infections
ADALBTN3A2CATSPER2CTDSPL2FMO4FRA10AC1H3C12H4C13SLC26A5SCINTCF12TRIM69USP47ZSCAN31
ADAL (Adenosine Deaminase-Like): ADAL is a protein similar to adenosine deaminase, which is involved in purine metabolism. It plays a role in the breakdown of adenosine, an important molecule for energy transfer and signaling in cells. ADAL's function in adenosine metabolism is critical for maintaining cellular energy balance and nucleotide pool homeostasis.
BTN3A2 (Butyrophilin Subfamily 3 Member A2): BTN3A2 is part of the butyrophilin protein family, which is involved in the regulation of immune responses, particularly in T cell activation and differentiation. This protein plays a role in the modulation of immune surveillance and has been implicated in autoimmune diseases and cancer. Understanding the function of BTN3A2 and its interactions with other immune components is crucial for developing therapies targeting immune regulation.
CATSPER2 (Cation Channel, Sperm Associated 2): CATSPER2 is essential for sperm motility and fertility, forming part of a complex calcium channel in sperm that is necessary for the hyperactivated motility required for fertilization. Mutations in CATSPER2 can lead to male infertility due to impaired sperm function. Research on CATSPER2 offers insights into reproductive health and potential targets for contraception or treatments for infertility.
CTDSPL2 (CTD Small Phosphatase Like 2): CTDSPL2 is implicated in the regulation of transcriptional and post-transcriptional processes through its role in RNA polymerase II dephosphorylation. It may influence gene expression, cell cycle progression, and differentiation. While its specific functions are still being elucidated, CTDSPL2's activity is important for understanding cellular growth control and its dysregulation in diseases such as cancer.
FMO4 (Flavin Containing Monooxygenase 4): FMO4 is part of the flavin-containing monooxygenase family, enzymes that play a crucial role in the detoxification of xenobiotics, drugs, and endogenous compounds by catalyzing the oxidation of soft nucleophiles. FMO4 is expressed primarily in the liver and has a substrate specificity that can influence the metabolism and elimination of various substances, potentially affecting drug responses and toxicity. Research into FMO4 focuses on its role in metabolic pathways and its implications for pharmacology and toxicology.
FRA10AC1 (Fragile Site, Folic Acid Type, Rare, Fra(10)(q23.3) Or FRA10A Candidate 1): FRA10AC1 is associated with a rare fragile site on chromosome 10, which can exhibit increased susceptibility to breakage under certain conditions. Fragile sites are areas in the genome that can lead to chromosomal instability and have been linked to various genetic disorders and cancers. The specific functions of FRA10AC1 are not well-characterized, but studies aim to understand its role in genomic stability and its potential association with developmental disorders and disease susceptibility.
H3C12 (Histone Cluster 3, H3c12): H3C12 is part of a cluster of histone genes, which encode histone proteins essential for DNA packaging in chromosomes. Histones play a critical role in regulating gene expression. Mutations or alterations in histone genes like H3C12 can have broad implications in cell function and are associated with various cancers.
H4C13 (Histone Cluster 4, H4C13): H4C13 encodes a component of histone H4, essential for the structure of chromatin in eukaryotic cells. Histones play a key role in the regulation of gene expression and DNA repair and are fundamental to the integrity of genomic DNA.
SLC26A5 (Solute Carrier Family 26 Member 5, also known as Prestin): SLC26A5, or Prestin, is a motor protein in the outer hair cells of the cochlea, essential for sound amplification and hearing. It acts as a voltage-sensitive motor protein, contributing to the exquisite sensitivity and frequency selectivity of the cochlea. Mutations or dysregulation of SLC26A5 can affect hearing function, making it a significant focus for understanding the molecular basis of hearing and for developing treatments for hearing loss.
SCIN (Scinderin): SCIN is an actin-severing protein involved in the regulation of actin cytoskeleton dynamics, playing a role in cellular processes such as cell motility, secretion, and membrane trafficking. By modulating actin filament organization, SCIN contributes to the cellular responses to extracellular signals and is involved in various physiological and pathological processes, including cell migration and invasion in cancer. Research on SCIN aims to elucidate its mechanisms of action and potential as a therapeutic target in diseases characterized by abnormal cell movement.
TCF12 (Transcription Factor 12): TCF12 is a member of the basic helix-loop-helix (bHLH) transcription factor family, involved in the regulation of gene expression during development and differentiation, particularly in the nervous system and muscle tissue. TCF12 plays a critical role in cell fate decisions, tissue development, and differentiation. Mutations in TCF12 are linked to craniosynostosis, a condition characterized by the premature fusion of skull bones, indicating its importance in craniofacial development. Understanding TCF12's function provides insights into developmental biology and the genetic basis of congenital disorders.
TRIM69 (Tripartite Motif Containing 69): TRIM69 is part of the TRIM protein family, which is involved in various cellular processes, including viral defense, regulation of transcription, and cell cycle control. TRIM69 has been studied for its role in antiviral response and immune regulation. It has the potential to influence the innate immune system by modulating the activity of key signaling pathways. Research into TRIM69 aims to uncover its specific mechanisms of action and its impact on disease resistance and immune function.
USP47 (Ubiquitin Specific Peptidase 47): USP47 is an enzyme that specifically removes ubiquitin from ubiquitinated proteins, thereby regulating their degradation. It plays a crucial role in DNA repair, cell cycle regulation, and signal transduction by maintaining protein stability. Dysregulation of USP47 has been implicated in the development of various cancers and other diseases, where it affects processes such as cell proliferation and apoptosis. Understanding USP47's function is essential for exploring new therapeutic strategies for cancer and other diseases associated with protein degradation pathways.
ZSCAN31 (Zinc Finger And SCAN Domain Containing 31): ZSCAN31 is a member of the zinc finger protein family, which is involved in DNA binding and gene transcription regulation. While specific functions of ZSCAN31 are still being elucidated, zinc finger proteins play significant roles in developmental processes, cellular differentiation, and the regulation of gene expression. Research on ZSCAN31 focuses on understanding its contribution to genetic regulation and its potential link to diseases, including its role in chromosomal stability and cancer.
Yeast Infection
ADGRL4CNR2DCDC2BEIF4G3FGFR2FMN2HP1BP3KIF17LCKLRRN2MGMTNAV1OR2M3SH3PXD2ATCERG1LTRAF5TXLNA
ADGRL4 (Adhesion G Protein-Coupled Receptor L4, also known as ELTD1): ADGRL4 is implicated in angiogenesis and vascular development. It has been identified as a potential marker and therapeutic target in cancer due to its role in tumor vasculature. By regulating endothelial cell function and contributing to the formation of new blood vessels, ADGRL4 plays a crucial role in both physiological and pathological processes, including wound healing and cancer progression. Research aims to leverage ADGRL4's function for anti-angiogenic therapies in cancer treatment.
CNR2 (Cannabinoid Receptor 2): CNR2 is a G protein-coupled receptor that binds cannabinoids and is primarily expressed in the immune system. It plays a significant role in modulating immune responses, inflammation, and pain. CNR2's activation can lead to anti-inflammatory and immunosuppressive effects, making it a target for treating inflammatory diseases, pain, and other conditions where the immune response needs modulation. Understanding CNR2's mechanisms offers potential therapeutic avenues for a wide range of diseases, including autoimmune disorders and chronic pain.
DCDC2B (Doublecortin Domain Containing 2B): DCDC2B is a member of the doublecortin family, which is involved in neuronal migration and cortical development. Proteins in this family are characterized by doublecortin domains that bind to microtubules, influencing neuronal cell movement and the proper formation of the cerebral cortex. Mutations or dysregulation in DCDC2B may be linked to neurological disorders and developmental abnormalities, highlighting its importance in brain development and function.
EIF4G3 (Eukaryotic Translation Initiation Factor 4 Gamma 3): EIF4G3 plays a crucial role in the initiation phase of protein synthesis. As part of the eIF4F complex, it helps in recruiting ribosomes to mRNA for translation, facilitating the synthesis of proteins. EIF4G3's function is essential for cellular growth and differentiation, and dysregulation can impact protein production, potentially leading to diseases including cancers where protein synthesis is often dysregulated.
FGFR2 (Fibroblast Growth Factor Receptor 2): FGFR2 is a receptor for fibroblast growth factors and is involved in numerous processes including cell growth, differentiation, and repair. Mutations in FGFR2 are associated with various developmental disorders, including craniosynostosis and skeletal dysplasia, and are implicated in certain types of cancer.
FMN2 (Formin 2): FMN2 is involved in cytoskeletal regulation, particularly in the formation of actin filaments. It plays a significant role in cell division, movement, and morphogenesis, contributing to the structural integrity and dynamics of the cytoskeleton. FMN2's function is crucial during cell division and in the development of the nervous system, with mutations affecting sperm motility and potentially leading to infertility or developmental disorders.
HP1BP3 (Heterochromatin Protein 1 Binding Protein 3): HP1BP3 interacts with components of heterochromatin, contributing to the regulation of gene expression and chromatin structure. It is involved in the maintenance of genomic stability and DNA repair mechanisms. The role of HP1BP3 in chromatin remodeling and gene silencing has implications for cellular differentiation and the development of diseases, including cancer, where these processes are often altered.
KIF17 (Kinesin Family Member 17): KIF17 is a motor protein that transports cargo along microtubules, playing a key role in intracellular transport, particularly in neurons. It is involved in the anterograde transport of molecules such as NMDA receptors to synaptic sites, affecting synaptic plasticity and memory formation. Dysregulation of KIF17 has been linked to neurological disorders, underscoring its importance in neuron function and health.
LCK (Lymphocyte-Specific Protein Tyrosine Kinase): LCK is a critical enzyme in the T-cell receptor (TCR) signaling pathway, playing a pivotal role in T-cell development and activation. It phosphorylates key proteins involved in the TCR signaling cascade, initiating the immune response. LCK's activity is essential for the adaptive immune system's function, and dysregulation can lead to autoimmune diseases or immunodeficiency. Its importance in T-cell function makes LCK a target for immunotherapy in cancer and autoimmune disorders.
LRRN2 (Leucine Rich Repeat Neuronal 2): LRRN2 is part of the leucine-rich repeat family of proteins, which are involved in protein-protein interactions and play critical roles in cell adhesion, signaling, and neuronal development. LRRN2 is expressed in various regions of the brain and is thought to contribute to neural circuit formation and synaptic differentiation. Its function in neural development and plasticity suggests a potential role in neurological disorders, though specific implications remain to be fully elucidated.
MGMT (O-6-Methylguanine-DNA Methyltransferase): MGMT is a DNA repair enzyme that removes alkyl groups from the O6 position of guanine, preventing mutations and maintaining genomic stability. It plays a crucial role in protecting cells from mutagenic or carcinogenic effects of alkylating agents. MGMT's activity is a key factor in resistance to certain chemotherapy drugs, making it a focus of cancer treatment research, particularly in gliomas, where its expression can influence therapy outcomes.
NAV1 (Neuron Navigator 1): NAV1 is a member of the neuron navigator family, involved in neuronal development and axonal guidance. It plays a role in the migration and morphogenesis of neurons, affecting the growth and guidance of axons towards their targets. NAV1's function is essential for the proper wiring of the nervous system, and disruptions in its activity can be linked to neurodevelopmental disorders and may influence recovery processes after nerve injury.
OR2M3 (Olfactory Receptor, Family 2, Subfamily M, Member 3): OR2M3 belongs to the olfactory receptor gene family, one of the largest gene families in mammals, responsible for the sense of smell. These receptors detect volatile odor compounds and are highly diverse, allowing for the perception of a wide range of smells. OR2M3, like other olfactory receptors, is expressed in the olfactory epithelium of the nose and plays a role in odor detection and signal transduction to the brain. Studies on olfactory receptors like OR2M3 contribute to our understanding of smell and may have implications for flavor science and the development of synthetic odorants.
SH3PXD2A (SH3 And PX Domains 2A, also known as TKS5): SH3PXD2A is a scaffold protein involved in the formation of podosomes or invadopodia in cells, structures associated with tissue remodeling, cell migration, and invasion. It plays a significant role in cancer metastasis and angiogenesis by facilitating the degradation of the extracellular matrix. SH3PXD2A's function in cellular dynamics and interaction with the environment makes it a potential target for cancer therapy, particularly in limiting cancer spread.
TCERG1L (Transcription Elongation Regulator 1-Like): TCERG1L is involved in the regulation of gene transcription, particularly in the elongation phase of RNA polymerase II transcription. This process is critical for the accurate expression of genes. TCERG1L influences the transcription of specific genes, impacting various cellular processes, including development and response to stress. Understanding its role helps elucidate the complexities of gene regulation and its implications for diseases related to transcriptional dysregulation.
TRAF5 (TNF Receptor-Associated Factor 5): TRAF5 is a member of the TRAF protein family, which mediates signal transduction from various receptors, including TNF receptors and Toll-like receptors, playing a key role in immune and inflammatory responses. TRAF5 is involved in NF-kB activation, a pathway essential for immune regulation, cell survival, and differentiation. Dysregulation of TRAF5 can contribute to autoimmune diseases, making it a potential target for therapeutic intervention in immune disorders.
TXLNA (Taxilin Alpha): TXLNA is involved in vesicle trafficking, protein transport, and possibly in the regulation of exocytosis. It interacts with various proteins, playing a role in the organization of intracellular transport systems. TXLNA's function in cellular logistics is important for maintaining cell homeostasis and may have implications for neurodegenerative diseases and disorders affecting protein transport and secretion.
Gastrointestinal Infection
ABOATXN1BHLHE41CNTN5FCHO2FLNBMFHAS1MGANPC1PIK3R1PRICKLE1RBMS3SESN3
ABO (ABO Blood Group System): The ABO gene is responsible for determining the ABO blood group of an individual. It encodes enzymes that modify the structure of glycoproteins and glycolipids on the surface of red blood cells, resulting in different blood types (A, B, AB, and O). Variations in this gene are not only crucial for blood transfusion compatibility but also have been associated with various diseases, including cardiovascular diseases and certain types of cancer.
ATXN1 (Ataxin 1): ATXN1 encodes a protein called ataxin-1, which is involved in neuronal function. Mutations in this gene, particularly expanded CAG repeats, cause spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disorder characterized by loss of motor coordination and balance. Research into ATXN1 is crucial for understanding and developing treatments for this and similar neurodegenerative diseases.
BHLHE41 (Basic Helix-Loop-Helix Family, Member E41): BHLHE41, also known as DEC2, is a transcription factor implicated in the regulation of circadian rhythms and sleep. Variations in this gene are associated with natural short sleep phenotype, where individuals function well with less sleep than average. Understanding BHLHE41 could provide insights into sleep disorders and circadian rhythm regulation.
CNTN5 (Contactin 5): CNTN5 is part of the contactin family, playing a role in the development of the nervous system, particularly in the formation of neural connections. Mutations in CNTN5 have been linked to neurodevelopmental disorders, including autism spectrum disorders and intellectual disabilities, highlighting its importance in neuronal development and function.
FCHO2 (FCH Domain Only 2): FCHO2 is involved in the process of clathrin-mediated endocytosis, a key mechanism for internalizing substances from the cell surface. It plays a role in vesicle formation and trafficking within cells. Dysregulation of FCHO2 can affect cellular uptake processes and has potential implications in various cellular dysfunctions.
FLNB (Filamin B): FLNB encodes a protein that is crucial for the cross-linking of actin filaments in the cytoskeleton. Mutations in FLNB cause a range of skeletal disorders known as filaminopathies, which include conditions like spondylocarpotarsal synostosis syndrome and Larsen syndrome. These disorders are characterized by skeletal malformations and joint dislocations.
MFHAS1 (Malignant Fibrous Histiocytoma Amplified Sequence 1): MFHAS1, also known as MASL1, is implicated in immune responses and inflammation. It has been studied in the context of malignant fibrous histiocytoma, a type of cancer. This gene is thought to play a role in tumorigenesis and immune regulation.
MGA (MAX Gene Associated): MGA is a large transcription factor involved in the regulation of cell growth and division. It is part of a network of genes that control cell cycle progression and has been implicated in the development of certain cancers, as it can interact with oncogenes and tumor suppressor genes.
NPC1 (Niemann-Pick Disease, Type C1): NPC1 is crucial for cholesterol trafficking within cells. Mutations in this gene cause Niemann-Pick disease type C, a rare genetic disorder characterized by the accumulation of cholesterol and other lipids in cells, leading to neurodegeneration and liver dysfunction.
PIK3R1 (Phosphoinositide-3-Kinase, Regulatory Subunit 1): PIK3R1 encodes a regulatory subunit of the phosphoinositide 3-kinase (PI3K), which is a part of important signaling pathways involved in cell growth, proliferation, and survival. Mutations in this gene are implicated in several cancers and are a target for cancer therapies. It also plays a role in insulin signaling and is associated with diabetes and metabolic syndromes.
PRICKLE1 (Prickle Planar Cell Polarity Protein 1): PRICKLE1 is involved in the planar cell polarity pathway, which coordinates the orientation of cells in the plane of a tissue. Mutations in PRICKLE1 are associated with epilepsy and neurodevelopmental disorders, reflecting its role in neural development and function.
RBMS3 (RNA Binding Motif, Single-Stranded Interacting Protein 3): RBMS3 is a gene that encodes a protein involved in RNA binding and regulation of gene expression. It is implicated in cell adhesion and tissue development. Alterations in RBMS3 have been linked to various types of cancer, including gastric and lung cancer.
SESN3 (Sestrin 3): SESN3 is part of the sestrin family of stress-responsive proteins and is involved in the regulation of cell growth and metabolism, particularly in response to cellular stress. It plays a role in antioxidant defense and has been linked to metabolic regulation, with implications for diseases like obesity and diabetes.
C. difficile Infection
C6ORF47CDH8CNOT4CSMD1CSMD3DAPKCTD1LRRN1NWD2PDE5APRSS37SORCS2TCF19TRIM37USP25
C6ORF47 (Chromosome 6 Open Reading Frame 47): C6ORF47, located on chromosome 6, is a lesser-characterized gene. Open reading frames like C6ORF47 often represent potential protein-coding regions, but their specific functions can be enigmatic. The study of such genes can uncover new aspects of cellular function and contribute to a more comprehensive understanding of the human genome.
CDH8 (Cadherin 8): CDH8 encodes a type of cadherin, a protein essential for cell adhesion. Cadherins play a critical role in the formation of tissues and maintaining cell structure. CDH8, in particular, is important in the development of the nervous system and is involved in neural connections and brain development. Abnormalities in CDH8 are associated with neurodevelopmental disorders, making it a significant gene in neurological research.
CNOT4 (CCR4-NOT Transcription Complex Subunit 4): CNOT4 is a part of the CCR4-NOT complex, which is essential for regulating gene expression at multiple levels, including mRNA degradation and transcriptional control. This gene plays a role in various cellular processes, including immune responses and development. Dysregulation of CNOT4 has been implicated in cancer and other diseases, highlighting its importance in gene regulation and disease.
CSMD1 (CUB and Sushi Multiple Domains 1): CSMD1 is a gene implicated in neural development and functioning. It is thought to play a role in the immune system and in synaptic plasticity. Genetic studies have associated CSMD1 with neuropsychiatric disorders, including schizophrenia and cognitive functions.
CSMD3 (CUB And Sushi Multiple Domains 3): Similar to CSMD1, CSMD3 encodes a protein that participates in cell adhesion and signaling. It is also involved in immune response regulation and neuronal development. Research into CSMD3 is significant for understanding its role in diseases such as cancer and neurodevelopmental disorders.
DAP (Death-Associated Protein): DAP is involved in the regulation of cell death, a critical process in development and disease. It plays a role in apoptosis, the programmed cell death mechanism, which is essential for maintaining cellular health and preventing cancer. Understanding the function of DAP is key in studying cell life cycle and in developing therapies for diseases where cell death regulation is disrupted.
KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is part of a family of proteins that are known to interact with potassium channels, influencing their activity. These proteins play roles in various cellular functions, including signal transduction and ion transport. Mutations in KCTD1 have been linked to developmental disorders, particularly affecting the skin and hair.
LRRN1 (Leucine-Rich Repeat Neuronal 1): LRRN1 is a gene involved in neural development, particularly in the formation and maintenance of neural connections. It encodes a protein that belongs to the leucine-rich repeat family, which is important in protein-protein interactions. LRRN1 is significant in understanding neural development and may be implicated in neurodevelopmental disorders.
NWD2 (NACHT and WD Repeat Domain Containing 2): NWD2 is part of a gene family characterized by NACHT and WD repeat domains, which are involved in immune and inflammatory responses. This gene is thought to play a role in the regulation of innate immunity and inflammation. Understanding NWD2 is crucial for insights into immune system disorders and may have implications in autoimmune diseases and inflammatory conditions.
PDE5A (Phosphodiesterase 5A): PDE5A encodes a phosphodiesterase enzyme that specifically targets cyclic GMP, a second messenger important in various biological processes. PDE5A is well-known for its role in vascular smooth muscle regulation, and inhibitors of PDE5A are used in treating erectile dysfunction and pulmonary hypertension. Research into PDE5A is significant for cardiovascular and urogenital health.
PRSS37 (Protease, Serine 37): PRSS37 is a gene encoding a serine protease enzyme, which plays a role in reproductive physiology. Its exact function is still being elucidated, but it's thought to be important in sperm maturation and fertility. Mutations in PRSS37 have been associated with male infertility, making it a key gene in reproductive health research.
SORCS2 (Sortilin-Related VPS10 Domain Containing Receptor 2): SORCS2 is involved in neuronal development and signaling. It is a member of the VPS10 domain-containing receptor family, which plays roles in neurotrophic signaling and neural plasticity. Dysregulation of SORCS2 has been linked to neurological disorders, including Alzheimer’s disease and schizophrenia.
TCF19 (Transcription Factor 19): TCF19 is a transcription factor involved in cell cycle regulation. It plays a role in the control of cell proliferation and may be implicated in the response to DNA damage. Its dysfunction or dysregulation can have implications in various cancers, highlighting its importance in cell biology and oncology.
TRIM37 (Tripartite Motif Containing 37): TRIM37 is a gene encoding a protein with E3 ubiquitin ligase activity, involved in protein degradation. It has been implicated in the Mulibrey nanism, a rare growth disorder. The study of TRIM37 is important in understanding growth and developmental disorders and the ubiquitin-proteasome system.
USP25 (Ubiquitin Specific Peptidase 25): USP25 encodes an enzyme that is part of the ubiquitin-proteasome pathway, responsible for removing ubiquitin from proteins, thereby regulating their degradation. It is involved in various cellular processes, including signal transduction and stress response. Alterations in USP25 are linked to immune system dysregulation and potentially to cancer.
Genital Herpes
ADAM32ADARB2AKR1E2APBB1IPATP1B3C10ORF53CDH23CELF2CYP2C9EGR2HASPINIL2RAMSRB2OTUD1POLR3ATAMM41ZNF365
ADAM32 (ADAM Metallopeptidase Domain 32): ADAM32 is part of the ADAM (A Disintegrin And Metalloproteinase) family, which is known for roles in cell adhesion and proteolytic processing of cell surface proteins. These enzymes are involved in various biological processes, including cell signaling, fertilization, and cell migration. ADAM32's specific functions are still being explored, but like other family members, it may play a role in tissue remodeling, cell-cell interactions, and possibly in reproductive processes.
ADARB2 (Adenosine Deaminase RNA-Specific B2): ADARB2 is an enzyme that belongs to the adenosine deaminase family and is involved in RNA editing. It specifically deaminates adenosine to inosine in RNA molecules, leading to alterations in RNA sequences. This post-transcriptional modification can impact the structure and function of RNA, potentially influencing various cellular processes and gene expression regulation.
AKR1E2 (Aldo-Keto Reductase Family 1 Member E2): AKR1E2 is part of the aldo-keto reductase family, which is involved in the detoxification of aldehydes and ketones. The specific function of AKR1E2 is not fully understood, but members of this family play roles in metabolism and the response to oxidative stress. Research into AKR1E2 could provide insights into metabolic disorders and cellular responses to environmental stressors.
APBB1IP (Amyloid Beta Precursor Protein-Binding Family B Member 1 Interacting Protein): APBB1IP, also known as RIAM (Rap1-GTP-interacting adaptor molecule), plays a critical role in integrin activation, a key process in cell adhesion and migration. By linking Rap1 GTPases to the actin cytoskeleton, APBB1IP facilitates cell adhesion to the extracellular matrix, impacting immune cell function, tumor metastasis, and wound healing. Its role in these processes makes it a subject of interest for research into immune response regulation and cancer.
ATP1B3 (ATPase Na+/K+ Transporting Subunit Beta 3): ATP1B3 is part of the Na+/K+ ATPase pump, which is essential for maintaining cellular ion gradients, a critical process for cell volume regulation and electrical excitability. This subunit helps regulate the pump's activity and specificity, contributing to its role in muscle function, nerve transmission, and kidney filtration. Dysregulation or mutations in ATP1B3 have potential implications for cardiovascular diseases and neurological disorders.
C10ORF53 (Chromosome 10 Open Reading Frame 53): C10ORF53 is a gene of unknown function, identified based on its location on chromosome 10. Genes like C10ORF53 represent potential areas of interest for genetic research to uncover new biological pathways and disease associations. As research progresses, understanding the role of C10ORF53 could provide insights into cellular processes or conditions linked to this genomic region.
CDH23 (Cadherin-Related 23): CDH23 encodes a protein that is part of the cadherin superfamily, known for their role in cell-cell adhesion. Specifically, CDH23 is crucial for the structure and function of the hair cells in the inner ear, which are responsible for hearing and balance. Mutations in CDH23 are associated with Usher syndrome and non-syndromic hearing loss, highlighting its importance in sensory function. Research into CDH23 focuses on understanding hearing mechanisms and developing treatments for related hearing impairments.
CELF2 (CUGBP Elav-Like Family Member 2): CELF2 is a member of the CUG-BP, Elav-like family of RNA-binding proteins, which play critical roles in the regulation of RNA processing, including alternative splicing, stability, and translation. CELF2 is involved in the development and function of the immune system and has been implicated in neurological disorders. Its role in post-transcriptional gene regulation makes it a key player in cell differentiation and disease pathogenesis, offering potential targets for therapeutic intervention.
CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9): CYP2C9 is a key enzyme in the cytochrome P450 enzyme family, responsible for the metabolism of various drugs and endogenous compounds. It plays a significant role in the detoxification and clearance of substances in the liver. Genetic variations in CYP2C9 can affect drug metabolism, influencing drug efficacy and toxicity, and are important considerations in personalized medicine for determining appropriate drug dosages for individual patients.
EGR2 (Early Growth Response 2): EGR2 is a transcription factor involved in the regulation of neuronal and immune system development. It plays a crucial role in myelination in the peripheral nervous system and is implicated in the control of cell growth and differentiation. Mutations in EGR2 are associated with Charcot-Marie-Tooth disease and related neuropathies, highlighting its importance in neural development and function.
HASPIN (Histone H3 Associated Protein Kinase): HASPIN is a kinase that phosphorylates histone H3, playing an important role in the regulation of chromosome condensation and segregation during mitosis. It is crucial for maintaining genomic stability and proper cell division. Dysregulation of HASPIN activity can lead to chromosomal abnormalities and is being studied for its potential role in cancer development and as a target for cancer therapies.
IL2RA (Interleukin 2 Receptor Alpha): IL2RA, also known as CD25, is part of the receptor complex for interleukin-2, a cytokine that plays a central role in T-cell proliferation and differentiation. This receptor is crucial for the regulation of the immune response, including the development and function of regulatory T cells that prevent autoimmune diseases. Dysregulation of IL2RA or its pathway can lead to autoimmune conditions and is a focus for immunotherapy, particularly in cancer and transplant medicine.
MSRB2 (Methionine Sulfoxide Reductase B2): MSRB2 is an enzyme involved in the repair of oxidized methionine residues in proteins, protecting cells from oxidative stress and maintaining protein function. It plays a role in antioxidant defense mechanisms and is important for cellular resilience to environmental stresses. Research into MSRB2 focuses on its potential role in aging, neurodegenerative diseases, and conditions related to oxidative damage.
OTUD1 (OTU Deubiquitinase 1): OTUD1 is a deubiquitinating enzyme involved in the process of removing ubiquitin from ubiquitinated proteins, regulating their degradation, signaling, and other cellular processes. OTUD1 plays a role in the regulation of immune responses and cell signaling pathways by modulating the stability of specific protein targets. Its function in maintaining protein homeostasis and regulating immune signaling highlights its potential importance in immune-related diseases and cancer.
POLR3A (RNA Polymerase III Subunit A): POLR3A is a critical component of RNA polymerase III, the enzyme responsible for synthesizing small RNAs, including tRNAs, 5S rRNA, and other non-coding RNAs. POLR3A is essential for the transcription of genes involved in protein synthesis and various cellular processes. Mutations in POLR3A have been linked to neurological diseases and developmental disorders, underscoring its importance in cellular function and human health.
TAMM41 (TAM41 Mitochondrial Translocator Assembly and Maintenance Protein): TAMM41 is involved in phospholipid biosynthesis within mitochondria, playing a crucial role in mitochondrial membrane maintenance and function. It is essential for the proper assembly and operation of the mitochondrial electron transport chain, affecting cellular energy production. Research into TAMM41 focuses on its role in mitochondrial physiology and its implications for metabolic disorders and mitochondrial diseases.
ZNF365 (Zinc Finger Protein 365): ZNF365 is a member of the zinc finger protein family, which is involved in DNA binding and the regulation of gene expression. ZNF365 has been implicated in DNA damage response and repair mechanisms, playing a role in maintaining genomic stability. Variants in ZNF365 are associated with risks for several diseases, including breast cancer and Crohn’s disease, highlighting its role in cellular defense mechanisms and disease susceptibility.
EBV Infection
CEP63CPXM1FANCIGBE1GCNT1H3C12MST1MS4A13P2RY12PHF14PHKBRHBDD3SIDT1SLC24A4SPATA6SUGCTSVEP1UTP20
CEP63 (Centrosomal Protein 63): CEP63 is crucial for centrosome duplication, a key event in cell division. It plays a significant role in maintaining the fidelity of cell division and is involved in cellular responses to DNA damage. Mutations in CEP63 can lead to microcephaly and other developmental disorders, highlighting its importance in cell cycle regulation and development.
CPXM1 (Carboxypeptidase X, M14 Family Member 1): CPXM1 encodes a metallo-carboxypeptidase that functions in extracellular matrix remodeling. It plays a role in cell adhesion and migration, and is involved in various physiological processes, including wound healing and inflammation. Dysregulation of CPXM1 may have implications in tissue remodeling disorders and certain cancers.
FANCI (FA Complementation Group I): FANCI is part of the Fanconi anemia (FA) pathway, crucial for DNA repair. It plays a role in the response to DNA damage and is important for maintaining genomic stability. Mutations in FANCI can cause Fanconi anemia, a disorder characterized by bone marrow failure, cancer susceptibility, and developmental abnormalities.
GBE1 (Glycogen Branching Enzyme 1): GBE1 is essential for glycogen synthesis, a key process in energy metabolism. It is involved in the formation of glycogen's branched structure. Mutations in GBE1 lead to glycogen storage disease type IV, characterized by abnormal glycogen accumulation in cells, affecting liver and muscle function.
GCNT1 (Glucosaminyl (N-Acetyl) Transferase 1): GCNT1 is involved in the biosynthesis of mucins, which are components of mucus. It plays a role in the modification of glycoproteins, impacting cell signaling and immune response. Dysregulation of GCNT1 has implications in various diseases, including cystic fibrosis and certain cancers.
H3C12 (Histone Cluster 3, H3c12): H3C12 is part of a cluster of histone genes, which encode histone proteins essential for DNA packaging in chromosomes. Histones play a critical role in regulating gene expression. Mutations or alterations in histone genes like H3C12 can have broad implications in cell function and are associated with various cancers.
MST1 (Macrophage Stimulating 1): MST1 encodes a protein involved in the stimulation of macrophages, key cells in the immune system. It plays a role in inflammation and immune response, and is implicated in the pathogenesis of autoimmune diseases and cancer.
MS4A13 (Membrane Spanning 4-Domains A13): MS4A13 is part of the MS4A gene family, which is involved in signal transduction and cellular activation. The specific role of MS4A13 is not well understood, but members of this family are important in immune responses and in the pathogenesis of diseases like Alzheimer's.
P2RY12 (Purinergic Receptor P2Y12): P2RY12 is a receptor for ADP and plays a key role in platelet aggregation, a crucial step in blood clot formation. It is a target for antiplatelet drugs, which are used to prevent thrombosis in cardiovascular diseases. Understanding P2RY12 is important for cardiovascular health and in the management of clotting disorders.
PHF14 (PHD Finger Protein 14): PHF14 is a gene encoding a protein with a PHD finger domain, suggesting a role in chromatin-mediated regulation of gene expression. It may be involved in developmental processes and cell differentiation. Dysregulation of PHF14 can have implications in developmental disorders and various cancers.
PHKB (Phosphorylase Kinase Beta): PHKB is part of the glycogenolysis pathway, essential for glycogen breakdown. It is a regulatory subunit of phosphorylase kinase, which activates glycogen phosphorylase, the enzyme responsible for glycogen degradation. Mutations in PHKB can lead to glycogen storage disease IX, affecting liver and muscle function.
RHBDD3 (Rhomboid 5 Homolog 3): RHBDD3 is part of the rhomboid family of proteins, involved in various cellular processes, including signal transduction and protein trafficking. The specific function of RHBDD3 in these processes is still being explored, but it may have implications in cell signaling and cancer biology.
SIDT1 (SID1 Transmembrane Family, Member 1): SIDT1 is involved in the cellular uptake of double-stranded RNA, playing a role in RNA interference and antiviral responses. It is significant in understanding cellular mechanisms for fighting viral infections and in the study of RNA-based therapeutic strategies.
SLC24A4 (Solute Carrier Family 24 Member 4): SLC24A4 is involved in calcium and sodium ion transport, particularly in the formation of dental enamel and regulation of melanogenesis. Mutations in SLC24A4 are associated with amelogenesis imperfecta, a condition affecting tooth enamel, and may have implications in pigmentation disorders.
SPATA6 (Spermatogenesis Associated 6): SPATA6 is important in spermatogenesis, the process of sperm cell development. It is involved in the formation and function of spermatozoa. Mutations in SPATA6 can lead to male infertility, making it a significant gene in the study of reproductive health.
SUGCT (Succinyl-CoA:Glutarate-CoA Transferase): SUGCT is involved in the metabolism of glutarate, playing a role in the tricarboxylic acid (TCA) cycle. It is important in energy production and amino acid metabolism. Dysfunctions in SUGCT can lead to glutaric aciduria type III, a metabolic disorder affecting energy production.
SVEP1 (Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1): SVEP1 is a cell adhesion molecule involved in the development of cardiovascular and lymphatic systems. It plays a role in cell-cell interactions and signaling pathways that are crucial for vascular integrity and immune responses. Alterations in SVEP1 are linked to cardiovascular diseases and may have implications in immune system disorders.
UTP20 (UTP20, Small Subunit Processome Component): UTP20 is involved in the processing and assembly of the 18S rRNA, a crucial component of the small ribosomal subunit. It plays a role in ribosome biogenesis, which is essential for protein synthesis. Dysfunctions in UTP20 can affect cell growth and proliferation, with potential implications in developmental disorders and cancers.
Strep Infection
COPS9CYP4V2DACT1FYB2GJA10HCN4MDFINMRK1NTSR2OSR1PHYHIPLPGLYRP2SLC44A1SLC7A11STARD5TBX3ZNF770
COPS9 (COP9 Signalosome Subunit 9): COPS9 is part of the COP9 signalosome, a complex that regulates protein degradation and is involved in various cellular processes, including cell cycle control, signal transduction, and DNA repair. The COP9 signalosome acts by modulating the activity of the ubiquitin-proteasome system, influencing the stability of a wide range of proteins. COPS9's role in this complex underscores its importance in maintaining cellular homeostasis and its potential involvement in the development of diseases when these processes are dysregulated.
CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2): CYP4V2 is an enzyme involved in fatty acid and lipid metabolism. It plays a role in the biosynthesis of fatty acid epoxides, which have various physiological functions, including in the regulation of blood pressure and inflammation. Mutations in CYP4V2 are associated with Bietti's crystalline dystrophy, a rare genetic eye disorder that affects the retina and can lead to progressive vision loss, highlighting its role in ocular health and lipid processing.
DACT1 (Dishevelled-Binding Antagonist of Beta-Catenin 1): DACT1 is involved in the Wnt signaling pathway, which plays a crucial role in embryonic development, cell proliferation, and differentiation. By modulating Wnt signaling, DACT1 influences various aspects of development and tissue homeostasis. Dysregulation of DACT1 expression has been implicated in several cancers, as Wnt signaling is critical for cell growth and differentiation, making it a target for cancer research.
FYB2 (FYN Binding Protein 2): FYB2, also known as ADAP2, is involved in signal transduction pathways within immune cells. It acts as an adaptor protein, mediating interactions between various signaling molecules, and plays a role in the regulation of immune cell activation and response. Its function is important for understanding the mechanisms of immune regulation and potential immune-related disorders.
GJA10 (Gap Junction Protein Alpha 10): GJA10 encodes a connexin protein that forms gap junction channels, allowing for the direct transfer of ions and small molecules between cells. This intercellular communication is crucial for maintaining tissue homeostasis and supporting coordinated cellular functions. GJA10 is particularly important in the eye, where it contributes to the transparency and function of the lens. Mutations in GJA10 have been linked to cataract formation and other ocular disorders.
HCN4 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4): HCN4 is a key component of the cardiac pacemaker channels responsible for regulating heart rhythm. It contributes to the generation and modulation of the pacemaker current in the heart, influencing heart rate and cardiac output. Mutations in HCN4 are associated with a variety of cardiac arrhythmias, including bradycardia and heart block, making it a critical gene for understanding cardiac function and its disorders.
MDFI (MyoD Family Inhibitor): MDFI is involved in the regulation of muscle differentiation and development. It acts as an inhibitor of MyoD family transcription factors, which are key regulators of myogenesis. By modulating the activity of these transcription factors, MDFI plays a role in controlling muscle cell proliferation and differentiation. Its function is crucial for the proper formation and repair of muscle tissue, and dysregulation can affect muscle development and regeneration.
NMRK1 (Nicotinamide Riboside Kinase 1): NMRK1 is an enzyme that catalyzes the phosphorylation of nicotinamide riboside to nicotinamide mononucleotide, a key step in the NAD+ biosynthesis pathway. NAD+ is essential for energy metabolism, DNA repair, and cellular signaling. NMRK1's role in NAD+ biosynthesis makes it important for maintaining cellular energy balance and genomic stability, with implications for aging, metabolic disorders, and diseases associated with NAD+ depletion.
NTSR2 (Neurotensin Receptor 2): NTSR2 is a G protein-coupled receptor for neurotensin, a neurotransmitter involved in various central nervous system functions, including analgesia, thermoregulation, and modulation of dopamine signaling. NTSR2's activation by neurotensin influences neural activity and has been implicated in the pathophysiology of psychiatric disorders, making it a potential target for the treatment of schizophrenia, mood disorders, and pain management.
OSR1 (Odd-Skipped Related 1): OSR1 is a transcription factor gene playing a key role in embryonic development, especially in the formation of the heart and urogenital system. Mutations or dysregulation of OSR1 can lead to developmental abnormalities in these systems. Research on OSR1 is significant for understanding congenital defects and developmental biology.
PHYHIPL (Phytanoyl-CoA 2-Hydroxylase Interacting Protein-Like): PHYHIPL is associated with the peroxisomal degradation pathway, specifically involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Its function is related to lipid metabolism and the maintenance of cellular lipid homeostasis. While the specific roles of PHYHIPL are still being elucidated, it may play a role in metabolic disorders and conditions associated with disrupted lipid metabolism.
PGLYRP2 (Peptidoglycan Recognition Protein 2): PGLYRP2 is part of the peptidoglycan recognition protein family, which plays a role in innate immunity by recognizing bacterial cell wall components and mediating antibacterial responses. PGLYRP2 is involved in maintaining the integrity of the intestinal barrier and modulating the gut microbiome. It contributes to the host defense against bacterial infections and is being studied for its role in inflammatory bowel diseases and its potential as a therapeutic target in disorders of gut immunity and inflammation.
SLC44A1 (Solute Carrier Family 44 Member 1): SLC44A1, also known as choline transporter-like protein 1, plays a key role in the transport of choline, a critical component in the synthesis of the neurotransmitter acetylcholine and phospholipids in cell membranes. It is involved in various physiological processes, including neurotransmission and cell membrane integrity. Dysregulation of choline transport can impact neurological functions and has been studied in the context of diseases such as Alzheimer's and other neurodegenerative conditions.
SLC7A11 (Solute Carrier Family 7 Member 11): SLC7A11 is a component of the xCT system, a transporter involved in the exchange of extracellular cystine for intracellular glutamate. This transporter plays a crucial role in maintaining intracellular glutathione levels, which are essential for cellular antioxidant defense mechanisms. Overexpression of SLC7A11 has been associated with cancer cell survival under oxidative stress conditions, making it a target for cancer therapy research.
STARD5 (StAR-Related Lipid Transfer Domain Containing 5): STARD5 is part of the START domain family, involved in the transport and distribution of lipids within cells. It plays a role in regulating lipid metabolism and homeostasis, particularly in the liver and gastrointestinal tract. Although the specific functions of STARD5 are still being explored, its role in lipid transport suggests implications for metabolic disorders and diseases involving lipid dysregulation.
TBX3 (T-Box Transcription Factor 3): TBX3 is a critical transcription factor involved in embryonic development, playing roles in the regulation of organogenesis, including limb, heart, and mammary gland development. Mutations or dysregulation of TBX3 can lead to developmental disorders, such as ulnar-mammary syndrome. TBX3 is also implicated in cancer development, where it can act as a transcriptional repressor to inhibit cell senescence and promote proliferation.
ZNF770 (Zinc Finger Protein 770): ZNF770 belongs to the zinc finger protein family, which plays diverse roles in DNA binding and gene transcription regulation. ZNF770 is involved in regulating the expression of genes associated with metabolic pathways and has been studied for its potential roles in glucose metabolism and insulin sensitivity. Understanding the function of ZNF770 may provide insights into mechanisms underlying metabolic disorders, such as diabetes.
Chlamydia
APOBEC1DKK1ITIH3LAMA5MANBAMT1XNCK2NPSR1OR13F1PIGNSCN9ASIGLECSLC1A7STARD3VAV2VPS35LVWA2ZBTB49
APOBEC1 (Apolipoprotein B mRNA Editing Enzyme, Catalytic Polypeptide 1): APOBEC1 is an RNA-editing enzyme primarily involved in the post-transcriptional modification of apolipoprotein B (apoB) mRNA, leading to the production of a shorter apoB protein form in the intestine. This modification is crucial for lipid metabolism and plays a role in the assembly and secretion of lipoproteins. Dysregulation of APOBEC1 can affect cholesterol homeostasis and is of interest in studies related to cardiovascular diseases and lipid disorders.
DKK1 (Dickkopf-1): DKK1 is a secreted protein that acts as an inhibitor of the Wnt signaling pathway, playing a critical role in embryonic development, bone formation, and cancer. By binding to LRP5/6 receptors, DKK1 prevents Wnt from activating its signaling pathway, influencing cell fate determination, proliferation, and differentiation. DKK1 is implicated in bone density regulation and osteoporosis, and its expression is associated with various cancers, making it a target for therapeutic intervention.
ITIH3 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 3): ITIH3 is a component of the inter-alpha-trypsin inhibitor family, involved in extracellular matrix stabilization and inflammation modulation. It plays a role in tissue repair and protection against protease-mediated tissue damage. Dysregulation of ITIH3 has been linked to cancer progression and inflammatory diseases, highlighting its importance in tissue homeostasis and the inflammatory response.
LAMA5 (Laminin Subunit Alpha 5): LAMA5 is part of the laminin protein family, which is crucial for the structure and function of basement membranes in various tissues. Laminins are involved in cell adhesion, differentiation, migration, and signaling. LAMA5 plays a significant role in vascular and neural development and has been studied for its involvement in pathological conditions such as cancer metastasis and fibrosis, where basement membrane integrity and function are disrupted.
MANBA (Mannosidase Beta): MANBA encodes a lysosomal enzyme that is involved in the degradation of N-linked glycoproteins. It catalyzes the hydrolysis of the beta-linked mannose residues in glycoproteins, playing a crucial role in the glycoprotein degradation pathway. Deficiencies in MANBA activity can lead to lysosomal storage disorders, characterized by the accumulation of undegraded glycoproteins, affecting cellular function and leading to clinical manifestations.
MT1X (Metallothionein 1X): MT1X belongs to the metallothionein family, which plays a significant role in metal ion homeostasis and detoxification, as well as protection against oxidative stress. Metallothioneins bind heavy metals, neutralizing their toxicity and aiding in their metabolism and excretion. MT1X, like other members of this family, is involved in the response to heavy metal exposure, oxidative stress, and inflammation, and has been implicated in various diseases, including cancer, due to its role in cell proliferation and apoptosis.
NCK2 (NCK Adaptor Protein 2): NCK2 is an adaptor protein that plays a key role in linking receptor tyrosine kinases with downstream signaling pathways involved in cell growth, migration, and cytoskeletal reorganization. It participates in various signaling networks that are essential for cellular responses to external stimuli. NCK2 dysregulation has been associated with cancer progression and metastasis, highlighting its importance in cell signaling and tumorigenesis.
NPSR1 (Neuropeptide S Receptor 1): NPSR1 is a G protein-coupled receptor for neuropeptide S, playing a role in regulating arousal, anxiety, and other behavioral responses. It has been studied for its involvement in sleep-wake regulation and its potential role in psychiatric disorders such as anxiety and panic disorder. Variations in NPSR1 have been linked to susceptibility to asthma and other inflammatory diseases, suggesting its broader implications in health and disease.
OR13F1 (Olfactory Receptor, Family 13, Subfamily F, Member 1): OR13F1 is a member of the olfactory receptor gene family, which are G protein-coupled receptors involved in odor detection. These receptors are expressed in the olfactory epithelium, where they bind specific odor molecules and initiate signal transduction pathways leading to the perception of smell. The specific ligands and functional roles of many olfactory receptors, including OR13F1, remain to be fully elucidated but are essential for our sense of smell and potentially for pheromone detection.
PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N): PIGN is involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, which are used to attach certain proteins to the cell membrane. GPI-anchored proteins play critical roles in cell adhesion, signal transduction, and immune response. Mutations in PIGN can lead to GPI anchor biosynthesis disorders, characterized by a wide range of symptoms including developmental delays, neurological issues, and congenital anomalies, reflecting the importance of GPI-anchored proteins in human physiology.
SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9): SCN9A encodes a voltage-gated sodium channel (NaV1.7) that is highly expressed in the peripheral nervous system, particularly in pain-sensing neurons (nociceptors). Mutations in SCN9A can lead to either gain-of-function or loss-of-function effects, resulting in conditions like erythromelalgia (extreme pain and redness in extremities) or congenital insensitivity to pain, respectively. This channel is a critical modulator of pain sensation, making it a target for the development of novel analgesics.
SIGLEC1 (Sialic Acid Binding Ig-Like Lectin 1): Also known as sialoadhesin or CD169, SIGLEC1 is a member of the I-type lectins, recognizing sialic acid residues on cell surfaces. It is expressed primarily on macrophages and plays roles in cell-cell interactions, mediating binding to sialylated pathogens, and modulating immune responses. SIGLEC1 has been implicated in the regulation of immune surveillance and in the pathogenesis of infectious diseases and certain cancers.
SLC1A7 (Solute Carrier Family 1 Member 7): SLC1A7 is a high-affinity glutamate transporter, primarily involved in the clearance of glutamate from the synaptic cleft. Its role is crucial in preventing excitotoxicity, a condition where excessive glutamate causes neuronal damage. While less studied than other glutamate transporters, SLC1A7 contributes to the regulation of glutamatergic signaling, with potential implications for neurological conditions characterized by dysregulated glutamate neurotransmission.
STARD3 (StAR-Related Lipid Transfer Domain Containing 3): STARD3 is involved in cholesterol trafficking and homeostasis within cells, particularly between endosomes and the plasma membrane or endoplasmic reticulum. It belongs to the START domain family, known for sterol and lipid transport. Alterations in STARD3 function can affect cellular cholesterol distribution, potentially impacting processes such as membrane composition, signaling, and the development of atherosclerosis.
VAV2 (Vav Guanine Nucleotide Exchange Factor 2): VAV2 is a guanine nucleotide exchange factor (GEF) that is primarily involved in transducing signals from tyrosine kinase receptors to Rho GTPases, affecting cell morphology, motility, and proliferation. It plays a significant role in various cellular processes, including cytoskeletal dynamics and cell signaling pathways. Dysregulation of VAV2 has been linked to cancer progression, making it a subject of interest for understanding tumorigenesis and metastasis.
VPS35L (VPS35 Retromer Complex Component Like): VPS35L is a component of the retromer complex, involved in the endosomal transport pathway crucial for recycling membrane proteins from endosomes to the Golgi apparatus or plasma membrane. While less studied than VPS35, VPS35L is believed to play a similar role in sorting and trafficking within cells, with implications for cellular homeostasis and signaling. Understanding its function is important for elucidating the mechanisms of protein recycling and its impact on various diseases, including neurodegenerative disorders.
VWA2 (Von Willebrand Factor A Domain Containing 2): VWA2 is involved in extracellular matrix (ECM) organization and cell-matrix adhesion, playing a role in tissue development and repair. It contains a Von Willebrand factor type A domain, typically associated with mediating interactions between proteins. VWA2's function in ECM stability and cell adhesion is critical for proper tissue architecture and function, with potential relevance to wound healing and diseases characterized by ECM dysregulation.
ZBTB49 (Zinc Finger and BTB Domain Containing 49): ZBTB49 is a transcription factor that likely plays a role in gene regulation through DNA binding and chromatin remodeling. Members of the ZBTB family are involved in various cellular processes, including proliferation, differentiation, and development. While specific functions of ZBTB49 are not well-characterized, its participation in transcriptional regulation suggests it could impact cell fate decisions and has potential implications for cancer and developmental disorders.
HPV Infection
ABHD2ARHGAP20C10ORF67CHATDDI1DLG2DOK5FAR1FDX1GDPD5GPR26KAT6BMPZL2NCAM1PPIFRHOBTB1TCF7L2TCERG1L
ABHD2 (Abhydrolase Domain Containing 2): ABHD2 is a member of the serine hydrolase superfamily, involved in lipid metabolism and signaling. It acts on various lipid substrates, playing roles in regulating physiological processes such as sperm capacitation, muscle contraction, and thermogenesis. ABHD2's activity in modulating lipid signaling pathways highlights its potential involvement in metabolic disorders and its interest as a target for therapeutic interventions related to fertility, obesity, and metabolic diseases.
ARHGAP20 (Rho GTPase Activating Protein 20): ARHGAP20 is involved in the regulation of Rho GTPases, key mediators of cytoskeletal dynamics, cell morphology, migration, and proliferation. By promoting the inactivation of Rho GTPases, ARHGAP20 plays a crucial role in controlling cell movement and maintaining cellular architecture. Dysregulation of Rho GTPase signaling by ARHGAP20 can contribute to cancer progression, making it a candidate for investigating the molecular mechanisms of metastasis and for developing anti-metastatic therapies.
C10ORF67 (Chromosome 10 Open Reading Frame 67): Also known as SASP, C10ORF67 is implicated in the regulation of cell proliferation and migration. Although its precise molecular function is not fully understood, it has been associated with the signaling pathways that contribute to cellular senescence and the senescence-associated secretory phenotype (SASP). Its role in these processes suggests potential implications for aging, cancer, and tissue regeneration studies.
CHAT (Choline Acetyltransferase): CHAT is the enzyme responsible for synthesizing acetylcholine, a critical neurotransmitter in both the peripheral and central nervous systems. Acetylcholine is involved in a wide range of functions, including muscle contraction, heart rate, memory, and learning. Dysfunctions in acetylcholine synthesis, due to alterations in CHAT activity, are associated with neurological disorders such as Alzheimer's disease and myasthenia gravis.
DDI1 (DNA-Damage Inducible 1 Homolog 1): DDI1 is a protein with roles in DNA repair, cell cycle regulation, and the ubiquitin-proteasome system. It is involved in the response to DNA damage and can act as a ubiquitin-dependent protease, participating in the degradation of certain proteins to maintain cellular integrity. The multifunctional nature of DDI1 suggests its importance in protecting cells from stress and its potential involvement in cancer and other diseases related to DNA damage and repair mechanisms.
DLG2 (Discs Large Homolog 2): The DLG2 gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family, proteins involved in synaptic assembly and function. It is particularly significant in the nervous system, where it contributes to synaptic plasticity and neuronal signaling. Disruptions in DLG2 have been linked to neurological disorders, emphasizing its role in brain function and development.
DOK5 (Docking Protein 5): DOK5 is part of the DOK family of proteins, which are substrates for receptor tyrosine kinases and play roles in signaling pathways that regulate cell growth, differentiation, and survival. DOK5 specifically is involved in neuronal differentiation and has been implicated in insulin signaling pathways. Its function is crucial for nervous system development and potentially for the regulation of metabolic processes.
FAR1 (Fatty Acyl-CoA Reductase 1): FAR1 is involved in the synthesis of fatty alcohols from fatty acyl-CoA substrates, a key step in the production of wax esters and other complex lipids. These lipids are essential components of cell membranes and are involved in protecting cells against environmental stress. FAR1's role in lipid metabolism has implications for skin barrier function, lipid storage diseases, and the development of biofuels and industrial chemicals.
FDX1 (Ferredoxin 1): FDX1 plays a crucial role in mitochondrial electron transport, facilitating the transfer of electrons in various metabolic processes, including steroid hormone biosynthesis and detoxification reactions. It is a key component in the synthesis of iron-sulfur clusters, essential cofactors for many enzymes. Dysregulation of FDX1 has implications for energy metabolism and has been explored in the context of diseases related to mitochondrial function.
GDPD5 (Glycerophosphodiester Phosphodiesterase Domain Containing 5): GDPD5 is involved in lipid metabolism, specifically in the hydrolysis of glycerophosphodiesters to glycerol phosphate and alcohol. This enzymatic activity is important for the degradation of cellular membrane components and the regulation of intracellular signaling molecules. Understanding the function of GDPD5 contributes to our knowledge of lipid signaling pathways and their implications in metabolic and cardiovascular diseases.
GPR26 (G Protein-Coupled Receptor 26): GPR26 is an orphan receptor whose specific ligand and physiological role are not well-characterized. However, it is thought to be involved in central nervous system function, potentially playing a role in regulating mood and behavior. Studies suggest that GPR26 may have implications for neurological conditions and psychiatric disorders, making it a target of interest for drug discovery and neuroscience research.
KAT6B (Lysine Acetyltransferase 6B): KAT6B, also known as MYST4 or MORF, is a histone acetyltransferase involved in chromatin remodeling and transcriptional regulation. It plays a significant role in development, cell cycle progression, and DNA repair. Mutations in KAT6B are associated with rare genetic disorders characterized by skeletal malformations and developmental delays, such as Genitopatellar syndrome and Ohdo syndrome.
MPZL2 (Myelin Protein Zero-Like 2): MPZL2 is a member of the myelin protein zero (MPZ) family and is involved in the formation and maintenance of myelin in the peripheral nervous system. Myelin is a crucial component for the efficient transmission of nerve impulses. Mutations in genes related to myelin proteins can lead to peripheral neuropathies.
NCAM1 (Neural Cell Adhesion Molecule 1): NCAM1 plays a pivotal role in neural development, particularly in cell-cell adhesion, neurite outgrowth, and synaptic plasticity. It's important for learning and memory and has been studied in the context of neuropsychiatric disorders, including schizophrenia and autism.
PPIF (Peptidylprolyl Isomerase F): PPIF, also known as cyclophilin D, is a mitochondrial peptidyl-prolyl cis-trans isomerase involved in the regulation of mitochondrial permeability transition pore (MPTP), which plays a key role in apoptosis and necrosis. PPIF's function is crucial for cell death pathways, and its inhibition has been explored as a therapeutic strategy in conditions involving ischemia-reperfusion injury, such as heart attack and stroke.
RHOBTB1 (Rho-Related BTB Domain Containing 1): RHOBTB1 is a member of the Rho GTPase family, which is involved in regulating a wide range of cellular processes including cytoskeletal organization, cell cycle progression, and gene expression. Unlike typical Rho GTPases, RHOBTB1 has a unique structure that suggests it may play roles in vesicular trafficking and signal transduction. Dysregulation of RHOBTB1 has been implicated in the development of certain cancers, highlighting its potential as a biomarker or therapeutic target in oncology.
TCF7L2 (Transcription Factor 7-Like 2): TCF7L2 is a key regulator in the Wnt signaling pathway, which is important for cell growth and development. Variants in this gene have been strongly associated with the risk of type 2 diabetes, possibly through effects on insulin secretion and glucose metabolism. Its study is crucial for understanding the genetic basis of diabetes and developing potential treatments.
TCERG1L (Transcription Elongation Regulator 1-Like): TCERG1L is involved in the regulation of gene transcription, particularly in the elongation phase of RNA polymerase II transcription. This process is critical for the accurate expression of genes. TCERG1L influences the transcription of specific genes, impacting various cellular processes, including development and response to stress. Understanding its role helps elucidate the complexities of gene regulation and its implications for diseases related to transcriptional dysregulation.
White Blood Cells
CXCL5CXCR2FLT3IRF8IL17RAJAMLLYSTNAA38NCLNORMDL3PLAURPRTFDC1PTPN22SH2B3TET2TTC28
CXCL5 (C-X-C Motif Chemokine Ligand 5): CXCL5 is a chemokine involved in the recruitment of neutrophils to sites of inflammation and injury, playing a key role in the innate immune response. It is particularly important in the process of wound healing and in the defense against bacterial infections. Overexpression of CXCL5 has been implicated in the promotion of tumor growth and metastasis, especially in cancers associated with chronic inflammation, suggesting its dual role in healing and disease progression.
CXCR2 (C-X-C Motif Chemokine Receptor 2): CXCR2 is a receptor for C-X-C motif chemokines and plays a significant role in mediating leukocyte migration to sites of inflammation. It is primarily involved in the recruitment of neutrophils, critical for the initial response to infection or injury. Dysregulation of CXCR2 signaling is associated with chronic inflammatory diseases, including COPD and asthma, and contributes to the inflammatory microenvironment favorable for tumor growth in cancer. Targeting CXCR2 signaling represents a therapeutic strategy in treating inflammatory diseases and limiting cancer progression.
FLT3 (Fms-Related Tyrosine Kinase 3): FLT3, a receptor tyrosine kinase, plays a pivotal role in the regulation of hematopoiesis, particularly in the proliferation, differentiation, and survival of blood progenitor cells. FLT3 signaling is essential for the normal development of hematopoietic stem cells and immune cells. Activating mutations of the FLT3 gene are among the most common in acute myeloid leukemia (AML), contributing to increased cell proliferation and survival. Targeting FLT3 through specific inhibitors has become a therapeutic strategy for treating AML, underscoring its importance in leukemia pathogenesis.
IRF8 (Interferon Regulatory Factor 8): IRF8 is a gene encoding a transcription factor that is important for the development and function of immune cells, including dendritic cells and macrophages. IRF8 regulates the expression of genes involved in immune responses and antigen presentation. Mutations in IRF8 can impact immune cell differentiation and function.
IL17RA (Interleukin 17 Receptor A): IL17RA is a part of the receptor complex for interleukin 17 (IL-17), a cytokine that plays a significant role in mediating inflammatory and immune responses. IL17RA signaling is crucial for the defense against extracellular pathogens and is involved in the pathogenesis of several autoimmune and inflammatory diseases, such as psoriasis, rheumatoid arthritis, and ankylosing spondylitis. Therapeutic targeting of IL17RA and the IL-17 pathway is an area of active research for treating these conditions.
JAML (Junctional Adhesion Molecule Like): JAML is a cell adhesion molecule that plays a crucial role in the regulation of leukocyte transmigration across epithelial and endothelial barriers, a key process in the immune response to tissue injury and infection. It is involved in mediating cell-cell interactions that facilitate the movement of immune cells from the bloodstream into tissues. JAML's function is important for understanding inflammatory responses and the mechanisms of immune surveillance, making it a potential target for therapeutic intervention in inflammatory diseases and immune disorders.
LYST (Lysosomal Trafficking Regulator): LYST is a gene that encodes a protein involved in the regulation of lysosomal trafficking. Mutations in LYST cause Chédiak-Higashi syndrome, a rare autosomal recessive disorder characterized by partial albinism, increased susceptibility to infections, and a predisposition to bleeding. The syndrome is attributed to defects in lysosomal trafficking, which affect the function of multiple cell types, including those involved in the immune system and pigmentation. Research into LYST and its associated pathways offers insights into lysosomal function and the development of treatments for lysosomal storage diseases.
NAA38 (N-Alpha-Acetyltransferase 38, NatC Catalytic Subunit): NAA38, also known as MAK3, is part of the N-terminal acetyltransferase complex that catalyzes the transfer of acetyl groups to the N-terminus of proteins, a modification affecting protein stability, localization, and function. While the specific biological roles of NAA38 and its substrate specificity are not fully understood, N-terminal acetylation is a widespread and important post-translational modification. Studying NAA38 and related enzymes can provide insights into the regulatory mechanisms of protein function and the implications of protein acetylation in cellular processes and diseases.
NCLN (Nicalin): NCLN is a part of the nicalin-NOMO (nodal modulator) complex, which is involved in various cellular processes including signaling pathways that regulate embryonic development and organogenesis. While the specific functions of NCLN are still being elucidated, it is thought to play a role in modulating signaling pathways such as the Nodal signaling, important for patterning and development. NCLN's function and its complex suggest its potential involvement in developmental disorders and diseases related to signaling pathway dysregulation.
ORMDL3 (ORMDL Sphingolipid Biosynthesis Regulator 3): ORMDL3 is associated with sphingolipid metabolism and may play a role in regulating the biosynthesis of sphingolipids. Dysregulation of ORMDL3 has been linked to asthma susceptibility and immune response.
PLAUR (Plasminogen Activator, Urokinase Receptor): PLAUR, also known as uPAR, is a receptor for urokinase plasminogen activator (uPA). It plays a key role in the regulation of proteolysis, cell migration, and tissue remodeling processes. The uPA-uPAR system is critical in wound healing, inflammation, and immune responses. Dysregulation of this system has been implicated in cancer progression and metastasis, as it can promote tumor cell invasion and angiogenesis, making PLAUR a potential target for therapeutic intervention in cancer.
PRTFDC1 (Phosphoribosyl Transferase Domain Containing 1): PRTFDC1 is an enzyme involved in the purine salvage pathway, which recycles purines from degraded DNA and RNA to synthesize new nucleotides. Its role in nucleotide metabolism suggests it could be important for cell proliferation and DNA repair processes. Alterations in the purine salvage pathway can affect cellular energy balance and genomic stability, with potential implications for metabolic disorders and susceptibility to DNA damage.
PTPN22 (Protein Tyrosine Phosphatase, Non-Receptor Type 22): PTPN22 is a lymphoid-specific phosphatase that plays a critical role in regulating immune responses by modulating T-cell receptor signaling. It acts as a negative regulator of T-cell activation, maintaining immune tolerance and preventing autoimmunity. Genetic variations in PTPN22 have been associated with an increased risk of several autoimmune diseases, including rheumatoid arthritis, type 1 diabetes, and systemic lupus erythematosus, highlighting its importance in immune regulation and autoimmunity.
SH2B3 (SH2B Adaptor Protein 3): SH2B3, also known as LNK, is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a crucial role in maintaining hematopoietic stem cell homeostasis and regulating immune responses. SH2B3 mutations are associated with a variety of hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, underscoring its importance in blood cell development and immune regulation.
TET2 (Tet Methylcytosine Dioxygenase 2): TET2 is an enzyme that catalyzes the conversion of 5-methylcytosine to 5-hydroxymethylcytosine in DNA, playing a key role in active DNA demethylation. This process is crucial for the regulation of gene expression, cellular differentiation, and the maintenance of genomic stability. Mutations in TET2 are commonly found in various hematological malignancies, such as myelodysplastic syndromes and acute myeloid leukemia, implicating TET2 in epigenetic regulation and the pathogenesis of cancer.
TTC28 (Tetratricopeptide Repeat Domain 28): TTC28 encodes a protein that contains tetratricopeptide repeat (TPR) domains, which are known to mediate protein-protein interactions. While the specific biological functions of TTC28 are not fully characterized, proteins with TPR domains are generally involved in a variety of cellular processes, including the regulation of transcription, cell cycle, and protein transport. Research into TTC28 may reveal its roles in these cellular pathways and its potential implications for diseases associated with dysregulation of protein interactions.
Monocytes
ACKR2ACOXLARHGAP9B3GNTL1CKMEHD3FLT3GFI1GSDMCIL17RAITGA4LYSTLYZPRLRS1PR4ST20TET2THEMIS2TNFRSF13B
ACKR2 (Atypical Chemokine Receptor 2): Also known as D6, ACKR2 is an atypical chemokine receptor that does not signal in the conventional manner but instead acts to scavenge chemokines from the environment. This function is critical in regulating inflammatory responses and maintaining immune homeostasis. ACKR2's role in clearing chemokines makes it important in controlling the spread of inflammation and has been implicated in various inflammatory diseases, including asthma, psoriasis, and cancer.
ACOXL (Acyl-CoA Oxidase-Like): ACOXL is closely related to the acyl-CoA oxidase family, which is involved in the β-oxidation of very long-chain fatty acids in peroxisomes. Although the exact metabolic function of ACOXL is less understood compared to other family members, it is believed to play a role in lipid metabolism and the regulation of fatty acid degradation. Understanding ACOXL's function could have implications for metabolic diseases and disorders related to lipid storage and oxidation.
ARHGAP9 (Rho GTPase Activating Protein 9): ARHGAP9 is a GTPase-activating protein that regulates the activity of Rho family GTPases, key regulators of the actin cytoskeleton, and cellular morphology. By modulating the activity of Rho GTPases, ARHGAP9 plays a role in cell migration, adhesion, and proliferation. It has been studied in the context of cancer, where its role in cell movement and invasion can influence tumor metastasis and progression.
B3GNTL1 (Beta-1,3-N-Acetylglucosaminyltransferase Like 1): B3GNTL1 is involved in the biosynthesis of complex carbohydrates, specifically in the formation of glycosaminoglycans, which are components of the extracellular matrix. While the detailed biological functions of B3GNTL1 are still being elucidated, enzymes involved in carbohydrate modification are crucial for cell-cell communication, signaling, and structural integrity. Aberrations in glycosaminoglycan synthesis can have implications for developmental processes and diseases such as cancer and congenital disorders.
CKM (Creatine Kinase, Muscle): CKM is an enzyme specific to muscle tissue, where it plays a crucial role in energy metabolism by catalyzing the reversible transfer of phosphate between ATP and creatine to maintain a constant supply of ATP during muscle contraction. Elevated levels of CKM in the blood are indicative of muscle damage and are used as a biomarker for myocardial infarction, muscular dystrophy, and other conditions involving muscle injury.
EHD3 (EH-Domain Containing 3): EHD3 is a member of the EHD protein family, involved in endocytic recycling. It plays a significant role in the trafficking and recycling of membrane proteins back to the plasma membrane, ensuring proper cell surface composition and signaling. EHD3's function in membrane trafficking is critical for cardiovascular health, and its dysregulation has been associated with heart diseases, highlighting its importance in cardiac muscle cell function.
FLT3 (Fms-Related Tyrosine Kinase 3): FLT3, a receptor tyrosine kinase, plays a pivotal role in the regulation of hematopoiesis, particularly in the proliferation, differentiation, and survival of blood progenitor cells. FLT3 signaling is essential for the normal development of hematopoietic stem cells and immune cells. Activating mutations of the FLT3 gene are among the most common in acute myeloid leukemia (AML), contributing to increased cell proliferation and survival. Targeting FLT3 through specific inhibitors has become a therapeutic strategy for treating AML, underscoring its importance in leukemia pathogenesis.
GFI1 (Growth Factor Independent 1 Transcriptional Repressor): GFI1 functions as a transcriptional repressor, playing a pivotal role in hematopoiesis, the immune response, and the regulation of stem cell differentiation. It is essential for the development and function of neutrophils and T cells. Mutations or dysregulation of GFI1 are linked to immune deficiencies and leukemias, reflecting its critical role in maintaining immune system balance and hematologic health.
GSDMC (Gasdermin C): GSDMC is part of the gasdermin family, which is known for its role in pyroptosis, a form of programmed cell death associated with inflammation. Although the specific functions of GSDMC are less well-understood compared to other gasdermins, it is believed to be involved in epithelial cell differentiation and may play a role in cancer. The study of GSDMC and its mechanisms of action could provide insights into inflammation-related diseases and tumor biology.
IL17RA (Interleukin 17 Receptor A): IL17RA is a part of the receptor complex for interleukin 17 (IL-17), a cytokine that plays a significant role in mediating inflammatory and immune responses. IL17RA signaling is crucial for the defense against extracellular pathogens and is involved in the pathogenesis of several autoimmune and inflammatory diseases, such as psoriasis, rheumatoid arthritis, and ankylosing spondylitis. Therapeutic targeting of IL17RA and the IL-17 pathway is an area of active research for treating these conditions.
ITGA4 (Integrin Subunit Alpha 4): ITGA4 is a cell adhesion molecule involved in leukocyte migration and immune responses. It's crucial for the immune system's ability to reach sites of inflammation. Dysregulation of ITGA4 can lead to autoimmune disorders and impacts the efficacy of immune responses.
LYST (Lysosomal Trafficking Regulator): LYST is a gene that encodes a protein involved in the regulation of lysosomal trafficking. Mutations in LYST cause Chédiak-Higashi syndrome, a rare autosomal recessive disorder characterized by partial albinism, increased susceptibility to infections, and a predisposition to bleeding. The syndrome is attributed to defects in lysosomal trafficking, which affect the function of multiple cell types, including those involved in the immune system and pigmentation. Research into LYST and its associated pathways offers insights into lysosomal function and the development of treatments for lysosomal storage diseases.
LYZ (Lysozyme): LYZ is an enzyme that plays a key role in the innate immune system by hydrolyzing the peptidoglycan layer of bacterial cell walls, leading to bacterial lysis. It is abundant in a variety of secretions, such as saliva, tears, and milk, and in granules of neutrophils. Beyond its antibacterial properties, LYZ has been studied for its role in modulating inflammation and its potential therapeutic applications in treating infections and inflammatory diseases.
PRLR (Prolactin Receptor): PRLR is a receptor for prolactin, a hormone involved in milk production, reproductive functions, and immunoregulation. Upon binding prolactin, PRLR activates signaling pathways that influence cell growth, development, and differentiation. Dysregulation of PRLR signaling has been implicated in breast and other cancers, highlighting its role in cellular proliferation and potential as a therapeutic target.
S1PR4 (Sphingosine-1-Phosphate Receptor 4): S1PR4 is a G protein-coupled receptor for sphingosine-1-phosphate (S1P), a lipid signaling molecule that influences immune cell migration, angiogenesis, and endothelial barrier integrity. S1PR4 is predominantly expressed in hematopoietic cells and plays a role in regulating immune responses and inflammation. Alterations in S1PR4 signaling can contribute to immune disorders and inflammatory diseases, emphasizing its role in immune regulation and inflammation.
ST20 (Suppressor Of Tumorigenicity 20): ST20, also known as MINK1, is a member of the germinal center kinase (GCK) family and plays a role in various cellular processes, including apoptosis, cytoskeletal reorganization, and cell migration. It is involved in signaling pathways that regulate cell survival and proliferation. The function of ST20 in tumorigenesis and its potential as a tumor suppressor are areas of ongoing research, with implications for cancer biology and therapy.
TET2 (Tet Methylcytosine Dioxygenase 2): TET2 is an enzyme that catalyzes the conversion of 5-methylcytosine to 5-hydroxymethylcytosine in DNA, playing a key role in active DNA demethylation. This process is crucial for the regulation of gene expression, cellular differentiation, and the maintenance of genomic stability. Mutations in TET2 are commonly found in various hematological malignancies, such as myelodysplastic syndromes and acute myeloid leukemia, implicating TET2 in epigenetic regulation and the pathogenesis of cancer.
THEMIS2 (Thymocyte Selection Associated Family Member 2): THEMIS2, primarily expressed in cells of the immune system, is implicated in the regulation of innate immune responses. It acts in signaling pathways that control the activation and function of macrophages and B cells. THEMIS2's role in immune regulation suggests its involvement in inflammatory diseases and its potential as a target for modulating immune responses in autoimmunity and infection.
TNFRSF13B (Tumor Necrosis Factor Receptor Superfamily Member 13B): Also known as TACI, TNFRSF13B is a receptor for cytokines BAFF and APRIL, which are crucial for B cell development and function. Mutations in TNFRSF13B have been associated with common variable immunodeficiency (CVID) and selective IgA deficiency, underscoring its importance in humoral immunity. Research on TNFRSF13B aims to understand its role in immune dysregulation and autoimmune diseases.
Basophils
BCL2CDK6CDKN2DCXCR2FCGR3AGATA2LARP4BLMNB1MAP4K1MPOPACC1RNF212BSPINT2TENT5ATFCP2
BCL2 (B-Cell Lymphoma 2): BCL2 is a gene that encodes a protein involved in regulating apoptosis, a process of programmed cell death. BCL2 proteins play a crucial role in maintaining the balance between cell survival and cell death. Dysregulation of BCL2 is implicated in cancer and various diseases.
CDK6 (Cyclin-Dependent Kinase 6): CDK6, in complex with D-type cyclins, plays a pivotal role in regulating cell cycle progression, particularly the transition from the G1 to S phase. It is essential for cellular proliferation and differentiation. Dysregulation of CDK6 activity has been linked to various cancers, making it a target for cancer therapy, especially in malignancies characterized by CDK6 overexpression or dysregulation.
CDKN2D (Cyclin-Dependent Kinase Inhibitor 2D): CDKN2D, also known as p19^INK4d, is one of the INK4 family of cyclin-dependent kinase inhibitors that plays a critical role in regulating cell cycle progression. By inhibiting CDK4 and CDK6, CDKN2D prevents the phosphorylation of the retinoblastoma protein, leading to cell cycle arrest in the G1 phase. Its function as a tumor suppressor highlights its importance in preventing uncontrolled cell proliferation, and loss of CDKN2D function has been implicated in the development of various cancers.
CXCR2 (C-X-C Motif Chemokine Receptor 2): CXCR2 is a receptor for C-X-C motif chemokines and plays a significant role in mediating leukocyte migration to sites of inflammation. It is primarily involved in the recruitment of neutrophils, critical for the initial response to infection or injury. Dysregulation of CXCR2 signaling is associated with chronic inflammatory diseases, including COPD and asthma, and contributes to the inflammatory microenvironment favorable for tumor growth in cancer. Targeting CXCR2 signaling represents a therapeutic strategy in treating inflammatory diseases and limiting cancer progression.
FCGR3A (Fc Fragment Of IgG Receptor IIIa): FCGR3A, also known as CD16a, is a receptor for the Fc portion of immunoglobulin G (IgG) and plays a key role in immune response by mediating antibody-dependent cellular cytotoxicity (ADCC). It is expressed on natural killer (NK) cells, macrophages, and some T cells, facilitating the clearance of pathogens and antibody-coated cells. Variations in FCGR3A have been associated with susceptibility to autoimmune diseases and response to immunotherapy in cancer treatment.
GATA2 (GATA Binding Protein 2): GATA2 is a transcription factor critical for the regulation of genes involved in hematopoiesis and endothelial cell function. It plays an essential role in the development and maintenance of hematopoietic stem cells and the immune system. Mutations in GATA2 are associated with several hematologic disorders, including GATA2 deficiency, which can lead to immunodeficiency, myelodysplastic syndrome, and acute myeloid leukemia.
LARP4B (La-Related Protein 4B): LARP4B is a member of the La-related protein (LARP) family, involved in the regulation of RNA stability and translation. While the specific functions of LARP4B are still being elucidated, LARPs generally play roles in post-transcriptional gene regulation, affecting mRNA stability, translation, and cell growth. Understanding LARP4B's function could provide insights into the mechanisms of gene expression control and its implications for diseases related to RNA dysregulation.
LMNB1 (Lamin B1): LMNB1 encodes Lamin B1, a component of the nuclear lamina, a fibrous layer underlying the inner nuclear membrane that provides structural support to the nucleus. Lamin B1 is involved in DNA replication, chromatin organization, and the regulation of gene expression. Mutations or alterations in LMNB1 expression have been linked to a variety of developmental disorders and diseases, including laminopathies, which affect muscle, fat, and bone tissue, and premature aging syndromes.
MAP4K1 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 1): MAP4K1, also known as HPK1 (Hematopoietic Progenitor Kinase 1), is a member of the STE20 kinase family and plays a critical role in immune cell signaling. It is involved in the regulation of T cell activation and differentiation, acting upstream of the MAP kinase signaling pathway. MAP4K1's function in modulating immune responses makes it a potential target for immunotherapy, particularly in autoimmune diseases and cancer.
MPO (Myeloperoxidase): MPO is an enzyme most abundantly expressed in neutrophils and is part of the host defense system. It produces hypochlorous acid and other reactive substances from hydrogen peroxide to kill bacteria and other pathogens. While essential for microbial defense, MPO activity can also contribute to tissue damage during inflammatory responses and has been implicated in various diseases, including cardiovascular diseases, due to its role in oxidative stress.
PACC1 (Peroxisome Acyl-CoA Carrier Protein 1): PACC1, while less characterized, is suggested to be involved in lipid metabolism pathways related to peroxisomal functions. Peroxisomes are cellular organelles crucial for the breakdown of very long-chain fatty acids and the synthesis of plasmalogens, important components of cell membranes. Understanding PACC1's role may provide insights into metabolic diseases and disorders involving peroxisomal dysfunction.
RNF212B (Ring Finger Protein 212B): RNF212B is a relatively uncharacterized protein that shares homology with RNF212, a protein known to play a role in meiotic recombination and the proper segregation of chromosomes during meiosis. Given its similarity, RNF212B might also be involved in genetic recombination processes or chromosome segregation, with potential implications for fertility and genetic stability.
SPINT2 (Serine Peptidase Inhibitor, Kunitz Type 2): SPINT2, also known as HAI-2 (Hepatocyte Growth Factor Activator Inhibitor-2), is a serine protease inhibitor that plays a crucial role in regulating proteolytic pathways, including those involved in cell growth, migration, and invasion. SPINT2 is particularly important in inhibiting the activity of matriptase, a protease involved in epithelial barrier function and cellular signaling. Loss of SPINT2 function has been associated with increased risk of tumor progression and metastasis, highlighting its role in cancer suppression.
TENT5A (Terminal Nucleotidyltransferase 5A): TENT5A is an enzyme that catalyzes the addition of nucleotides to the 3' end of RNA molecules. It plays a role in RNA processing and modification. The specific functions of TENT5A and its relevance to cellular processes are areas of ongoing research.
TFCP2 (Transcription Factor CP2): TFCP2, also known as LSF (Late SV40 Factor), is a transcription factor that plays a significant role in regulating gene expression across various biological processes, including cell cycle progression, liver regeneration, and viral replication. It binds to GC-rich promoter regions of target genes, influencing their transcriptional activity. TFCP2's involvement in cell proliferation and differentiation processes makes it relevant to studies on development and diseases such as cancer, where dysregulation of transcription factors can contribute to abnormal cell growth and tumor progression. Understanding TFCP2's role in these processes offers potential insights into the mechanisms of transcriptional regulation and its implications for therapeutic intervention in conditions associated with altered gene expression.
Eosinophils
ALOX15ASB2BCL2L1CCR3ERMP1GATA2GFI1BIL18R1ITGB8LGALS14NAA38NCF4SH2B3SHC1S1PR4
ALOX15 (Arachidonate 15-Lipoxygenase): ALOX15, or arachidonate 15-lipoxygenase, is an enzyme that catalyzes the oxygenation of polyunsaturated fatty acids in lipids. It is implicated in the biosynthesis of bioactive lipid mediators that are involved in inflammatory and immune responses. ALOX15's activity is crucial in the metabolism of arachidonic acid to produce leukotrienes and lipoxins, compounds that have both pro-inflammatory and anti-inflammatory effects. The enzyme's function is significant in the pathophysiology of diseases such as asthma, atherosclerosis, and cancer. Variations in the ALOX15 gene can influence the enzyme's expression and activity, affecting an individual's susceptibility to these diseases.
ASB2 (Ankyrin Repeat and SOCS Box Containing 2): ASB2, standing for ankyrin repeat and SOCS box containing 2, is part of the ASB family that participates in the ubiquitin-proteasome pathway for protein degradation. It acts by targeting specific proteins for ubiquitination and subsequent degradation, playing a critical role in controlling protein levels within cells. ASB2 is especially involved in the regulation of actin cytoskeleton dynamics and muscle function. Its activity has been linked to the regulation of hematopoietic stem cell differentiation and may influence the development of certain leukemias and muscular disorders. Dysregulation of ASB2 can disrupt normal cellular homeostasis, leading to disease.
BCL2L1 (BCL2 Like 1): BCL2L1, also known as Bcl-xL, is a member of the Bcl-2 protein family that plays a pivotal role in the regulation of apoptosis, or programmed cell death. By inhibiting the release of pro-apoptotic factors from mitochondria, BCL2L1 promotes cell survival and is crucial for maintaining cellular integrity under stress conditions. It is expressed in a variety of tissues and is involved in the development and progression of diseases, including cancer, by helping cancer cells evade apoptosis. The overexpression of BCL2L1 has been associated with resistance to chemotherapy and poor prognosis in various types of cancer.
CCR3 (C-C Motif Chemokine Receptor 3): CCR3 is a chemokine receptor important for the recruitment and activation of eosinophils, basophils, and T cells, playing a critical role in the body's inflammatory response and in the pathology of allergic diseases. It is a key receptor for eotaxin, a chemokine involved in eosinophilic inflammation, such as that seen in asthma and allergic rhinitis. Dysregulation of CCR3 signaling has been implicated in the exacerbation of allergic and inflammatory conditions, highlighting its potential as a target for therapeutic intervention in these diseases.
ERMP1 (Endoplasmic Reticulum Metallo Protease 1): ERMP1, or endoplasmic reticulum metallo protease 1, is involved in the processing and maturation of proteins within the endoplasmic reticulum (ER). It contributes to the maintenance of protein homeostasis by degrading misfolded or unassembled proteins, thereby preventing their accumulation and the potential induction of ER stress. ERMP1 plays a critical role in various cellular processes, including immune response and the regulation of ER-associated degradation (ERAD) pathway. Dysregulation of ERMP1 function can lead to various diseases, including neurodegenerative disorders and cancer, by affecting cellular stress responses and protein quality control mechanisms.
GATA2 (GATA Binding Protein 2): GATA2 is a transcription factor critical for the regulation of genes involved in hematopoiesis and endothelial cell function. It plays an essential role in the development and maintenance of hematopoietic stem cells and the immune system. Mutations in GATA2 are associated with several hematologic disorders, including GATA2 deficiency, which can lead to immunodeficiency, myelodysplastic syndrome, and acute myeloid leukemia.
GFI1B (Growth Factor Independence 1B): GFI1B is a transcriptional repressor essential for the development and differentiation of red blood cells and platelets. It regulates genes critical for cell cycle and apoptosis, ensuring a balance between cell growth and maturation. Dysregulation of GFI1B is linked to blood disorders like anemia and thrombocytopenia, and it plays a role in leukemia development. Its function is pivotal in maintaining hematopoietic cell balance and underscores the complexity of blood cell production.
IL18R1 (Interleukin 18 Receptor 1): IL18R1, also known as the interleukin 18 receptor 1, is a protein that plays a significant role in the immune response by serving as a receptor for interleukin 18 (IL-18), a cytokine involved in inflammation and immune defense. IL18R1's interaction with IL-18 is crucial for the activation of natural killer cells and certain types of T-cells, which are integral to the body's response to infection and injury. Alterations in the IL18R1 gene can influence susceptibility to various inflammatory and autoimmune diseases, highlighting its importance in regulating immune and inflammatory responses.
ITGB8 (Integrin Subunit Beta 8): ITGB8, integrin subunit beta 8, is involved in cell adhesion and signal transduction, mediating interactions between cells and the extracellular matrix. This protein plays a key role in tissue remodeling, angiogenesis, and brain development by facilitating the activation of transforming growth factor-beta (TGF-beta), a cytokine that controls proliferation, differentiation, and other functions in many cell types. Dysregulation of ITGB8 has been implicated in cancer development and progression, as well as in various vascular and neurological disorders, underscoring its critical role in cellular communication and pathology.
LGALS14 (Galectin 14): LGALS14, or galectin 14, is part of the galectin family, proteins that bind beta-galactoside sugars and are involved in modulating cell-cell and cell-matrix interactions. Galectin 14 is expressed predominantly in the placenta and plays a role in immune response regulation and fetal-maternal tolerance. Its expression and function are critical for pregnancy success, and abnormalities in LGALS14 have been associated with pregnancy-related complications, such as pre-eclampsia and intrauterine growth restriction, highlighting its role in reproductive health.
NAA38 (N-Alpha-Acetyltransferase 38, NatC Catalytic Subunit): NAA38, also known as MAK3, is part of the N-terminal acetyltransferase complex that catalyzes the transfer of acetyl groups to the N-terminus of proteins, a modification affecting protein stability, localization, and function. While the specific biological roles of NAA38 and its substrate specificity are not fully understood, N-terminal acetylation is a widespread and important post-translational modification. Studying NAA38 and related enzymes can provide insights into the regulatory mechanisms of protein function and the implications of protein acetylation in cellular processes and diseases.
NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a component of the NADPH oxidase complex, playing an essential role in the immune defense against pathogens. It participates in the generation of reactive oxygen species in phagocytes, which is crucial for the microbial killing. Mutations in NCF4 have been associated with chronic granulomatous disease, characterized by recurrent bacterial and fungal infections.
SH2B3 (SH2B Adaptor Protein 3): SH2B3, also known as LNK, is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a crucial role in maintaining hematopoietic stem cell homeostasis and regulating immune responses. SH2B3 mutations are associated with a variety of hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, underscoring its importance in blood cell development and immune regulation.
SHC1 (SHC Adaptor Protein 1): SHC1 is an adaptor protein involved in the signal transduction pathways that regulate cell growth, differentiation, and survival. By mediating the activation of the Ras/MAPK signaling pathway, SHC1 influences cellular responses to growth factors and cytokines. Dysregulation of SHC1 has been implicated in the development of various cancers, as well as in cardiovascular diseases, highlighting its critical role in cellular signaling and disease pathogenesis.
S1PR4 (Sphingosine-1-Phosphate Receptor 4): S1PR4 is a G protein-coupled receptor for sphingosine-1-phosphate (S1P), a lipid signaling molecule that influences immune cell migration, angiogenesis, and endothelial barrier integrity. S1PR4 is predominantly expressed in hematopoietic cells and plays a role in regulating immune responses and inflammation. Alterations in S1PR4 signaling can contribute to immune disorders and inflammatory diseases, emphasizing its role in immune regulation and inflammation.
Neutrophils
ACKR1ATF7CSF3RCXCL5CXCR2FLT3IFITM2IFNA13JAMLLYSTNAA38NBR1NCLNORMDL3PLAURRC3H1TTC28TSPOAP1
ACKR1 (Atypical Chemokine Receptor 1): ACKR1, formerly known as DARC (Duffy Antigen Receptor for Chemokines), acts as a decoy receptor for chemokines, modulating the immune response and inflammatory pathways. Unlike typical chemokine receptors, ACKR1 does not signal intracellularly but serves to sequester chemokines, reducing their availability to signal through conventional chemokine receptors. This unique mechanism plays a role in the regulation of inflammation and in protecting tissues from excessive damage during immune responses. Variations in ACKR1 are associated with susceptibility to infection and the severity of inflammatory diseases.
ATF7 (Activating Transcription Factor 7): ATF7 is a member of the ATF/CREB family of transcription factors and plays a pivotal role in cellular stress response, apoptosis, and development. It regulates the expression of genes involved in response to cellular stressors and contributes to neuronal differentiation and survival. Dysregulation of ATF7 activity has been linked to various stress-related conditions, including neurodegenerative diseases and cancer, underscoring its importance in maintaining cellular homeostasis and response to damage.
CSF3R (Colony Stimulating Factor 3 Receptor): CSF3R is the receptor for colony-stimulating factor 3 (CSF3), a cytokine that controls the production, differentiation, and function of granulocytes. The interaction of CSF3 with its receptor is crucial for the survival and activation of neutrophils, essential components of the innate immune response. Mutations or overexpression of CSF3R can lead to disorders of granulocyte function and proliferation, including chronic neutrophilic leukemia and severe congenital neutropenias, highlighting its role in hematopoiesis and immune defense.
CXCL5 (C-X-C Motif Chemokine Ligand 5): CXCL5 is a chemokine involved in the recruitment of neutrophils to sites of inflammation and injury, playing a key role in the innate immune response. It is particularly important in the process of wound healing and in the defense against bacterial infections. Overexpression of CXCL5 has been implicated in the promotion of tumor growth and metastasis, especially in cancers associated with chronic inflammation, suggesting its dual role in healing and disease progression.
CXCR2 (C-X-C Motif Chemokine Receptor 2): CXCR2 is a receptor for C-X-C motif chemokines and plays a significant role in mediating leukocyte migration to sites of inflammation. It is primarily involved in the recruitment of neutrophils, critical for the initial response to infection or injury. Dysregulation of CXCR2 signaling is associated with chronic inflammatory diseases, including COPD and asthma, and contributes to the inflammatory microenvironment favorable for tumor growth in cancer. Targeting CXCR2 signaling represents a therapeutic strategy in treating inflammatory diseases and limiting cancer progression.
FLT3 (Fms-Related Tyrosine Kinase 3): FLT3, a receptor tyrosine kinase, plays a pivotal role in the regulation of hematopoiesis, particularly in the proliferation, differentiation, and survival of blood progenitor cells. FLT3 signaling is essential for the normal development of hematopoietic stem cells and immune cells. Activating mutations of the FLT3 gene are among the most common in acute myeloid leukemia (AML), contributing to increased cell proliferation and survival. Targeting FLT3 through specific inhibitors has become a therapeutic strategy for treating AML, underscoring its importance in leukemia pathogenesis.
IFITM2 (Interferon Induced Transmembrane Protein 2): IFITM2 is part of the interferon-induced transmembrane protein family that plays a crucial role in the body's defense against viral infections. It is involved in inhibiting the replication and spread of various enveloped viruses within host cells. IFITM2 functions by blocking the fusion of viral membranes with host cell membranes, a critical step in the viral life cycle. Its expression is upregulated in response to interferon, highlighting its role in the innate immune response to viral infections.
IFNA13 (Interferon Alpha 13): IFNA13 belongs to the interferon alpha family, cytokines critical for the immune response against viral infections and tumor growth. IFNA13 is involved in activating the innate immune system, inducing the expression of genes that inhibit viral replication, enhance cell-mediated immunity, and promote the apoptosis of infected or malignant cells. Its role in antiviral defense and its potential in cancer immunotherapy highlight its importance in immunoregulation and anti-tumor activities.
JAML (Junctional Adhesion Molecule Like): JAML is a cell adhesion molecule that plays a crucial role in the regulation of leukocyte transmigration across epithelial and endothelial barriers, a key process in the immune response to tissue injury and infection. It is involved in mediating cell-cell interactions that facilitate the movement of immune cells from the bloodstream into tissues. JAML's function is important for understanding inflammatory responses and the mechanisms of immune surveillance, making it a potential target for therapeutic intervention in inflammatory diseases and immune disorders.
LYST (Lysosomal Trafficking Regulator): LYST is a gene that encodes a protein involved in the regulation of lysosomal trafficking. Mutations in LYST cause Chédiak-Higashi syndrome, a rare autosomal recessive disorder characterized by partial albinism, increased susceptibility to infections, and a predisposition to bleeding. The syndrome is attributed to defects in lysosomal trafficking, which affect the function of multiple cell types, including those involved in the immune system and pigmentation. Research into LYST and its associated pathways offers insights into lysosomal function and the development of treatments for lysosomal storage diseases.
NAA38 (N-Alpha-Acetyltransferase 38, NatC Catalytic Subunit): NAA38, also known as MAK3, is part of the N-terminal acetyltransferase complex that catalyzes the transfer of acetyl groups to the N-terminus of proteins, a modification affecting protein stability, localization, and function. While the specific biological roles of NAA38 and its substrate specificity are not fully understood, N-terminal acetylation is a widespread and important post-translational modification. Studying NAA38 and related enzymes can provide insights into the regulatory mechanisms of protein function and the implications of protein acetylation in cellular processes and diseases.
NBR1 (Neighbor Of BRCA1 Gene 1): NBR1 is a multifunctional autophagy receptor that plays a key role in selective autophagy, a process essential for degrading and recycling cellular components. It is involved in the selective degradation of ubiquitinated protein aggregates and damaged organelles, contributing to cellular homeostasis and protection against stress. NBR1's function in autophagy is linked to its role in disease prevention, including neurodegenerative diseases, cancer, and aging-related disorders, underscoring its importance in cellular health and longevity.
NCLN (Nicalin): NCLN is a part of the nicalin-NOMO (nodal modulator) complex, which is involved in various cellular processes including signaling pathways that regulate embryonic development and organogenesis. While the specific functions of NCLN are still being elucidated, it is thought to play a role in modulating signaling pathways such as the Nodal signaling, important for patterning and development. NCLN's function and its complex suggest its potential involvement in developmental disorders and diseases related to signaling pathway dysregulation.
ORMDL3 (ORMDL Sphingolipid Biosynthesis Regulator 3): ORMDL3 is associated with sphingolipid metabolism and may play a role in regulating the biosynthesis of sphingolipids. Dysregulation of ORMDL3 has been linked to asthma susceptibility and immune response.
PLAUR (Plasminogen Activator, Urokinase Receptor): PLAUR, also known as uPAR, is a receptor for urokinase plasminogen activator (uPA). It plays a key role in the regulation of proteolysis, cell migration, and tissue remodeling processes. The uPA-uPAR system is critical in wound healing, inflammation, and immune responses. Dysregulation of this system has been implicated in cancer progression and metastasis, as it can promote tumor cell invasion and angiogenesis, making PLAUR a potential target for therapeutic intervention in cancer.
RC3H1 (Ring Finger and CCCH-Type Domains 1): RC3H1, also known as Roquin, is a post-transcriptional regulator that controls the stability and translation of mRNA transcripts involved in immune response and inflammation. It plays a vital role in maintaining immune homeostasis by regulating the expression of cytokines and other immune-related genes. Dysregulation of RC3H1 has been implicated in autoimmune diseases, suggesting its potential as a target for immunotherapy.
TTC28 (Tetratricopeptide Repeat Domain 28): TTC28 encodes a protein that contains tetratricopeptide repeat (TPR) domains, which are known to mediate protein-protein interactions. While the specific biological functions of TTC28 are not fully characterized, proteins with TPR domains are generally involved in a variety of cellular processes, including the regulation of transcription, cell cycle, and protein transport. Research into TTC28 may reveal its roles in these cellular pathways and its potential implications for diseases associated with dysregulation of protein interactions.
TSPOAP1 (TSPO Associated Protein 1): TSPOAP1 is associated with the translocator protein (TSPO), involved in mitochondrial function and steroidogenesis. It plays a role in regulating cholesterol transport and mitochondrial respiration. While its specific functions are still being elucidated, TSPOAP1's association with mitochondrial activity suggests its importance in cellular energy metabolism and the potential impact on neurodegenerative diseases and mood disorders.
IgE
ACKR1FCER1AHLA-AHLA-CHLA-DQB1IL13IL4RLPPNQO1STAT6
ACKR1 (Atypical Chemokine Receptor 1): ACKR1, formerly known as DARC (Duffy Antigen Receptor for Chemokines), acts as a decoy receptor for chemokines, modulating the immune response and inflammatory pathways. Unlike typical chemokine receptors, ACKR1 does not signal intracellularly but serves to sequester chemokines, reducing their availability to signal through conventional chemokine receptors. This unique mechanism plays a role in the regulation of inflammation and in protecting tissues from excessive damage during immune responses. Variations in ACKR1 are associated with susceptibility to infection and the severity of inflammatory diseases.
FCER1A (High Affinity IgE Receptor, Alpha Polypeptide): FCER1A is a key component of the high affinity receptor for immunoglobulin E (IgE), critical for initiating allergic responses. It is primarily expressed on the surface of mast cells and basophils and plays a pivotal role in the release of histamine and other mediators in response to allergen exposure. Overactivity of FCER1A is linked to the development of allergic diseases, such as asthma, dermatitis, and anaphylaxis, emphasizing its role in allergic sensitization and inflammation.
HLA-A (Human Leukocyte Antigen A): HLA-A is part of the MHC class I molecules, essential for presenting peptide antigens to the immune system, particularly to CD8+ T cells. It plays a crucial role in the body's defense against pathogens and in tumor surveillance. Variations in HLA-A alleles can influence susceptibility to infectious diseases, autoimmune disorders, and transplant rejection. The specificity of HLA-A in antigen presentation underscores its significance in immune regulation and its potential as a target for immunotherapeutic strategies.
HLA-C (Human Leukocyte Antigen C): HLA-C belongs to the MHC class I family, playing a vital role in the immune system by presenting endogenous peptide antigens to CD8+ T cells. It is also important for natural killer (NK) cell regulation through its interaction with KIR receptors. HLA-C's expression levels and allelic diversity are key factors in immune response effectiveness, affecting susceptibility to infections, autoimmune diseases, and outcomes in transplantation. Its role in immune surveillance and tolerance highlights its importance in health and disease.
HLA-DQB1 (Human Leukocyte Antigen DQ Beta 1): HLA-DQB1 is a part of the MHC class II molecules, crucial for presenting exogenous peptide antigens to CD4+ T helper cells. It plays a significant role in initiating immune responses against pathogens and in self-tolerance. Variations in HLA-DQB1 are associated with several autoimmune conditions, including type 1 diabetes and celiac disease. Its critical function in immune response modulation makes it a focal point for understanding autoimmune pathogenesis and developing targeted therapies.
IL13 (Interleukin 13): IL13 is a cytokine involved in the regulation of immune responses, particularly in allergic inflammation and asthma. It plays a role in the modulation of antibody production and in the regulation of inflammatory responses, especially in allergic diseases and in the defense against parasitic infections.
IL4R (Interleukin 4 Receptor): IL4R is the receptor for interleukin 4 (IL4), a cytokine involved in the differentiation of naive T cells into Th2 cells, promoting B cell proliferation, and antibody production. IL4R signaling is critical for the development and regulation of allergic responses, including the production of IgE. Dysregulation of IL4R signaling has been implicated in the pathogenesis of asthma, atopic dermatitis, and other allergic conditions, making it a target for therapeutic intervention.
LPP (LIM Domain Containing Preferred Translocation Partner in Lipoma): LPP is involved in cytoskeletal organization and cell adhesion processes. It plays a role in cell migration, proliferation, and differentiation, being implicated in the regulation of gene expression through its interaction with transcription factors. Alterations in the LPP gene have been associated with the development of lipomas and other tumors, indicating its potential role in cancer development and progression.
NQO1 (NAD(P)H Quinone Dehydrogenase 1): NQO1 is an enzyme that protects cells from oxidative stress by catalyzing the reduction of quinones to hydroquinones. This activity helps to prevent the formation of reactive oxygen species and maintains cellular redox homeostasis. Polymorphisms in NQO1 have been linked to an increased risk of various cancers and susceptibility to toxin-induced toxicities, emphasizing its role in cellular protection and detoxification.
STAT6 (Signal Transducer and Activator of Transcription 6): STAT6 is a transcription factor that is activated by IL4 and IL13 signaling, playing a pivotal role in the development of Th2 cells and the regulation of allergic inflammation. It mediates the expression of genes involved in IgE production, mucus production, and eosinophil recruitment. Dysregulation of STAT6 signaling is implicated in the pathogenesis of allergic diseases, such as asthma and atopic dermatitis.
IL-17 (Th17)
AMBRA1EPM2AGRM1IKZF2MCFD2NAV3PCDH8PTPMT1PTPRJSHPRHSLC1A1TRIB3
AMBRA1 (Autophagy and Beclin 1 Regulator 1): AMBRA1 is a key regulator of autophagy, a critical cellular process for degrading and recycling cellular components. It plays a vital role in the autophagic response to cellular stress, promoting cell survival under adverse conditions. AMBRA1 interacts with BECN1 (Beclin 1) to initiate the formation of autophagosomes, essential for autophagy. Dysregulation of AMBRA1 has been linked to developmental abnormalities and neurodegenerative diseases, highlighting its importance in cellular homeostasis and disease prevention.
EPM2A (Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease (Laforin)): EPM2A encodes laforin, a phosphatase involved in glycogen metabolism. Mutations in EPM2A cause Lafora disease, a rare, fatal form of progressive myoclonus epilepsy. Laforin's role in dephosphorylating glycogen is crucial for preventing the formation of Lafora bodies, insoluble glycogen inclusions that are neurotoxic. The loss of EPM2A function underscores its critical role in neuronal health and highlights the impact of metabolic regulation on neurodegenerative diseases.
GRM1 (Glutamate Receptor, Metabotropic 1): GRM1 is a receptor for glutamate, the primary excitatory neurotransmitter in the nervous system. It plays a crucial role in modulating synaptic plasticity, learning, and memory. GRM1 is involved in various neural pathways and has been implicated in neurological and psychiatric disorders, including epilepsy, schizophrenia, and neurodegenerative diseases. Its role in neurotransmission and brain function makes it a potential target for therapeutic interventions in these conditions.
IKZF2 (IKAROS Family Zinc Finger 2): IKZF2, also known as Helios, is a transcription factor important for the development and differentiation of T cells. It plays a key role in maintaining the regulatory T cell lineage and function, crucial for immune tolerance and preventing autoimmunity. Dysregulation of IKZF2 has been associated with immune system disorders and is being explored for its potential in cancer immunotherapy, given its importance in immune regulation.
MCFD2 (Multiple Coagulation Factor Deficiency 2): MCFD2 is a key component of the complex responsible for the transport and proper folding of coagulation factors V and VIII, which are essential for blood clotting. Mutations in MCFD2 cause combined factor V and VIII deficiency, a rare bleeding disorder. This highlights the critical role of protein transport and folding mechanisms in hemostasis and the impact of their dysregulation on blood clotting disorders.
NAV3 (Neuron Navigator 3): NAV3 is implicated in neuronal migration and axonal guidance, playing a crucial role in brain development. It is part of the neuron navigator family, which is important for the proper formation of neural networks. Alterations in NAV3 have been linked to a variety of neurological disorders, including Alzheimer's disease and schizophrenia, underscoring its significance in maintaining neural structure and function.
PCDH8 (Protocadherin 8): PCDH8 belongs to the protocadherin family, cell adhesion molecules critical for the formation and maintenance of neural networks. It plays a significant role in synaptic plasticity, essential for learning and memory. Dysregulation of PCDH8 has been associated with neurodevelopmental disorders and is being studied for its role in tumor suppression, given its importance in cell-cell communication and signaling in the nervous system.
PTPMT1 (Protein Tyrosine Phosphatase, Mitochondrial 1): PTPMT1 is a mitochondrial phosphatase involved in the regulation of lipid metabolism and mitochondrial function. It plays a key role in the biosynthesis of cardiolipin, a phospholipid essential for mitochondrial membrane integrity and energy production. Dysregulation of PTPMT1 has implications for metabolic diseases and is being investigated for its role in cancer metabolism, highlighting its importance in cellular energy homeostasis and disease.
PTPRJ (Protein Tyrosine Phosphatase, Receptor Type J): PTPRJ is a member of the protein tyrosine phosphatase (PTP) family, enzymes that regulate cellular processes by dephosphorylating tyrosine residues on proteins. PTPRJ negatively regulates cell proliferation and is involved in cell signaling pathways that control cell growth and differentiation. It acts as a tumor suppressor in several types of cancers by inhibiting pathways that lead to uncontrolled cell growth. Loss of PTPRJ function has been linked to enhanced tumor growth and progression, emphasizing its role in cancer biology.
SHPRH (SNF2 Histone Linker PHD RING Helicase): SHPRH is a DNA helicase involved in the repair of DNA damage and the maintenance of genomic stability. It plays a critical role in the DNA damage response by facilitating the repair of DNA double-strand breaks, thereby preventing mutations that could lead to cancer. SHPRH has been identified as a tumor suppressor, with mutations in this gene associated with increased susceptibility to various cancers, highlighting its importance in protecting against genomic instability and tumorigenesis.
SLC1A1
TRIB3 (Tribbles Pseudokinase 3): TRIB3 is involved in various cellular processes, including stress response, cell proliferation, and metabolism. It acts as a modulator of signaling pathways and has been implicated in the development of conditions such as insulin resistance, cancer, and cardiovascular diseases.
IL-6
AKNAATP2B2ATP9AAQP10BTBD7CASS4CDKN2BFBLN5LRATMTAPNOS1P2RY1SERPINE2SOX4STEAP1BTBKBP1
AKNA (AT-Hook Transcription Factor): AKNA is a transcription factor that plays a crucial role in the regulation of immune responses, particularly in the development and function of lymphoid cells. It is involved in modulating the expression of genes crucial for cell proliferation and differentiation within the immune system. Dysregulation of AKNA has been associated with autoimmune diseases and may play a role in the development of lymphomas, emphasizing its significance in immune regulation and cancer.
ATP2B2 (ATPase Plasma Membrane Ca2+ Transporting 2): ATP2B2 encodes a calcium pump involved in the regulation of intracellular calcium levels, crucial for a wide range of cellular processes, including signal transduction, muscle contraction, and neurotransmitter release. Mutations in ATP2B2 have been linked to deafness and vestibular disorders, underscoring its role in hearing and balance through the regulation of calcium in sensory hair cells.
ATP9A (ATPase Phospholipid Transporting 9A): ATP9A is involved in the transport of phospholipids across cellular membranes, playing a key role in membrane trafficking and phospholipid homeostasis. It is important for cell growth, division, and differentiation. Dysregulation of ATP9A has been implicated in neurological disorders, highlighting its importance in maintaining cellular membrane composition and function.
AQP10 (Aquaporin 10): AQP10 is a member of the aquaporin family of water channels, involved in the transport of water and small solutes across cell membranes. It is primarily expressed in the intestine and plays a role in water absorption and gastrointestinal function. Although the specific physiological functions of AQP10 are still being elucidated, its expression in the gut suggests a role in maintaining water and electrolyte balance, with potential implications for gastrointestinal disorders.
BTBD7 (BTB Domain Containing 7): BTBD7 plays a key role in regulating epithelial-mesenchymal transition (EMT), a critical process in embryonic development, wound healing, and tumor metastasis. It functions by modulating the cytoskeletal architecture, thereby influencing cell shape, migration, and invasion. Dysregulation of BTBD7 has been linked to fibrosis and cancer progression, underlining its importance in tissue remodeling and its potential as a target for therapeutic intervention in fibrotic diseases and metastatic cancers.
CASS4 (Cas Scaffolding Protein Family Member 4): CASS4 is a member of the CAS family of scaffolding proteins, involved in integrin signaling and cell migration. It plays a crucial role in the dynamic reorganization of the cytoskeleton, promoting cell movement and invasion. CASS4's involvement in signaling pathways related to cell migration and its association with the extracellular matrix make it relevant in cancer metastasis and immune cell function, highlighting its role in cellular dynamics and disease progression.
CDKN2B (Cyclin-Dependent Kinase Inhibitor 2B): CDKN2B functions as a critical regulator of cell cycle progression by inhibiting cyclin-dependent kinases. It plays a vital role in controlling the G1 phase of the cell cycle, preventing uncontrolled cell proliferation. Loss of CDKN2B function is frequently observed in various cancers, emphasizing its role as a tumor suppressor gene. Its regulation of cell cycle dynamics underscores its importance in cancer prevention and as a potential therapeutic target.
FBLN5 (Fibulin 5): FBLN5 is involved in elastic fiber assembly and connective tissue organization, playing a crucial role in maintaining the integrity and elasticity of extracellular matrix. It is essential for skin, vascular, and lung function. Dysregulation of FBLN5 is associated with tissue stiffness, age-related macular degeneration, and organ fibrosis, highlighting its importance in tissue remodeling and disease.
LRAT (Lecithin Retinol Acyltransferase): LRAT is essential for the metabolism of vitamin A, catalyzing the esterification of all-trans-retinol into all-trans-retinyl esters, a storage form of vitamin A. This process is crucial for vision, immune function, and cellular differentiation. Deficiencies or mutations in LRAT can lead to retinal diseases and impairments in immune response, emphasizing its role in vitamin A homeostasis and overall health.
MTAP (Methylthioadenosine Phosphorylase): MTAP plays a role in the methionine salvage pathway, recycling methylthioadenosine produced during polyamine synthesis. Its function is critical for nucleotide and polyamine metabolism, affecting cell growth and differentiation. Loss of MTAP is frequently observed in cancers and is associated with poor prognosis, highlighting its potential as a therapeutic target due to its role in metabolic pathways critical for cell viability.
NOS1 (Nitric Oxide Synthase 1): NOS1 generates nitric oxide (NO), a critical signaling molecule involved in neurotransmission, vascular tone regulation, and immune response. It plays a significant role in the nervous system by modulating neuronal communication and plasticity. Dysregulation of NOS1 is implicated in neurological disorders, cardiovascular diseases, and inflammatory conditions, underlining its importance in cellular signaling and disease pathogenesis.
P2RY1 (Purinergic Receptor P2Y1): P2RY1 is a G-protein coupled receptor that responds to extracellular nucleotides, such as ATP and ADP, playing a critical role in intracellular signaling pathways involved in platelet aggregation, vascular tone, and neurotransmission. Activation of P2RY1 is crucial for initiating the platelet aggregation response to vessel injury, implicating its significance in thrombosis and hemostasis. Dysregulation of P2RY1 signaling is linked to increased risk of cardiovascular diseases, emphasizing its role in vascular health.
SERPINE2 (Serpin Family E Member 2): SERPINE2, also known as protease nexin-1, is a serine protease inhibitor with broad specificity, playing a significant role in regulating proteolytic pathways involved in tissue remodeling, fibrinolysis, and neuronal growth. It inhibits thrombin and urokinase-type plasminogen activator, crucial for blood clotting and tissue repair processes. Dysregulation of SERPINE2 has been associated with various cardiovascular and neurological disorders, highlighting its role in maintaining tissue integrity and function.
SOX4 (SRY-Box Transcription Factor 4): SOX4 is a transcription factor that plays a pivotal role in the regulation of embryonic development and cell fate determination. It is critical for the development of the heart, pancreas, and lymphocytes, as well as in the process of tumorigenesis. Overexpression of SOX4 has been implicated in the progression of several cancers, serving as a key regulator of cell proliferation, apoptosis, and metastasis, thus highlighting its dual role in development and cancer.
STEAP1B (STEAP Family Member 1B): STEAP1B, part of the Six Transmembrane Epithelial Antigen of the Prostate (STEAP) family, is involved in metalloreduction, particularly iron and copper reduction. It may play a role in cellular iron homeostasis and metabolism, which are vital for various physiological processes. The specific functions of STEAP1B in human health and disease are still being explored, with potential implications for understanding iron-related metabolic pathways.
TBKBP1 (TANK-Binding Kinase 1 Binding Protein 1): TBKBP1, also known as SINTBAD, is a scaffold protein involved in the regulation of innate immunity and inflammatory responses. It interacts with TBK1 and IKKε kinases, playing a crucial role in antiviral responses and the production of type I interferons. TBKBP1's role in modulating immune signaling pathways highlights its importance in immune defense and its potential as a therapeutic target in inflammatory and autoimmune diseases.
IL-10
BMP2HOMER1IKBIPLYRM7MACROD2NFKBIENEBLNNTPDIA5PREPRAPGEF6SHROOM3VLDLRZNF516
BMP2 (Bone Morphogenetic Protein 2): BMP2 is a member of the TGF-beta superfamily, known for its critical roles in bone and cartilage development. It induces bone formation and regeneration, making it a key factor in skeletal homeostasis. Dysregulation of BMP2 signaling has been associated with various skeletal disorders and has implications in cardiovascular disease, underscoring its potential in regenerative medicine and tissue engineering.
HOMER1 (Homer Scaffold Protein 1): HOMER1 is a scaffolding protein involved in the regulation of calcium signaling in neurons and muscle cells. It plays a crucial role in synaptic plasticity, neuronal development, and excitation-contraction coupling in muscle. Alterations in HOMER1 expression have been linked to neurological disorders, such as schizophrenia and epilepsy, highlighting its significance in neural communication and brain function.
IKBIP (Inhibitor of Kappa Light Polypeptide Gene Enhancer in B-Cells, Inhibitor Protein): IKBIP is involved in the negative regulation of NF-κB signaling, a pathway critical for immune response, inflammation, and cell survival. It acts by inhibiting the activity of NF-κB in the cytoplasm, preventing its translocation to the nucleus and activation of target genes. Dysregulation of NF-κB signaling through IKBIP has implications in autoimmune diseases, chronic inflammation, and cancer, emphasizing its role in controlling immune and inflammatory responses.
LYRM7 (LYR Motif Containing 7): LYRM7 is a component of the mitochondrial complex I assembly, playing a crucial role in the mitochondrial respiratory chain. This complex is essential for cellular energy production through oxidative phosphorylation. Mutations or dysregulation in LYRM7 can lead to mitochondrial dysfunction, contributing to a range of metabolic and degenerative diseases, including mitochondrial disorders and neurodegenerative conditions. Its role in energy metabolism highlights its importance in maintaining cellular function and viability.
MACROD2 (MACRO Domain Containing 2): MACROD2 is involved in the ADP-ribosylation process, a post-translational modification important for DNA repair, gene expression, and signal transduction. It plays a role in the regulation of genomic stability and cellular response to stress. Alterations in MACROD2 have been associated with various cancers and neurological disorders, underscoring its significance in DNA repair mechanisms and cellular stress responses.
NFKBIE (NF-Kappa-B Inhibitor Epsilon): NFKBIE is a critical regulator of the NF-kappa-B pathway, which is involved in immune responses, inflammation, and cell survival. It acts by inhibiting NF-kappa-B activity, thereby modulating the expression of genes involved in immune and inflammatory responses. Dysregulation of NFKBIE has been linked to autoimmune diseases, chronic inflammatory conditions, and cancer, highlighting its role in immune regulation and disease pathogenesis.
NEBL (Nebulette): NEBL is a cardiac-specific actin-binding protein, crucial for the structural integrity and function of cardiac muscle cells. It plays a significant role in the organization of the actin cytoskeleton, affecting heart muscle contraction and cardiac performance. Mutations in NEBL are associated with cardiomyopathies, indicating its critical role in maintaining cardiac muscle structure and function.
NNT (Nicotinamide Nucleotide Transhydrogenase): NNT is an enzyme located in the mitochondrial inner membrane, involved in the regeneration of NADPH from NADH. This process is crucial for maintaining the cellular redox state and protecting cells from oxidative stress. Deficiencies in NNT can lead to impaired mitochondrial function and increased susceptibility to oxidative damage, contributing to metabolic disorders and chronic diseases.
PDIA5 (Protein Disulfide Isomerase Family A, Member 5): PDIA5 is involved in the folding and maturation of proteins within the endoplasmic reticulum, playing a key role in ensuring proper protein conformation and function. It aids in the formation and rearrangement of disulfide bonds, crucial for protein stability. Dysregulation of PDIA5 can lead to protein misfolding diseases and has been implicated in the development of diabetes and neurodegenerative diseases, emphasizing its importance in protein quality control.
PREP (Prolyl Endopeptidase): PREP is a serine protease involved in the degradation of proline-containing peptides, playing a role in the metabolism of neuropeptides and peptide hormones. It is implicated in the modulation of cognitive processes and the inflammatory response. Alterations in PREP activity have been linked to neurological disorders, including Alzheimer's disease, suggesting its role in neurodegeneration and cognitive function.
RAPGEF6 (Rap Guanine Nucleotide Exchange Factor 6): RAPGEF6 is involved in signal transduction pathways that regulate cell adhesion, migration, and growth. It acts as a guanine nucleotide exchange factor for Rap proteins, modulating their activity in response to extracellular signals. Dysregulation of RAPGEF6 has been implicated in cancer progression and metastasis, highlighting its role in cellular signaling and the regulation of cell dynamics.
SHROOM3 (Shroom Family Member 3): SHROOM3 is a protein involved in the regulation of cell structure and shape, particularly in actin filament organization. It plays a crucial role in neural tube closure during embryonic development and has been implicated in various developmental disorders. SHROOM3 is also studied for its role in kidney and heart diseases.
VLDLR (Very Low Density Lipoprotein Receptor): VLDLR is a component of the lipid metabolism pathway, facilitating the uptake of triglyceride-rich lipoproteins into cells for energy utilization or storage. It plays a critical role in neuronal migration and cerebellar development. Mutations in VLDLR are associated with a rare genetic disorder known as dysequilibrium syndrome, characterized by cerebellar hypoplasia and cognitive disability, emphasizing its role in lipid metabolism and brain development.
ZNF516 (Zinc Finger Protein 516): ZNF516 is involved in transcriptional regulation, acting as a transcriptional repressor or activator in various gene expression pathways that govern cell differentiation, proliferation, and apoptosis. Its role is critical in cardiac development and function, with dysregulation linked to cardiovascular diseases. ZNF516 has also been implicated in the suppression of tumor growth, highlighting its potential as a target in cancer therapy and its importance in maintaining cellular homeostasis.
About the DNA Test
The DNA Immunity & Inflammation test from GetTested maps your genetic predisposition for a range of inflammatory and autoimmune conditions, including CRP (inflammation), appendicitis, psoriasis, joint issues, pancreatitis, eczema, gut issues, and gluten sensitivity (celiac disease). It also reviews your genetic predispositions towards various allergies, from general allergic reactions to specific food allergies like eggs and peanuts. Additionally, the test explores your risk for infections such as the flu, yeast infections, genital herpes, H. pylori, gastrointestinal infections, EBV, chlamydia, HPV, urinary tract infections, and C. difficile. It provides a comprehensive overview of your immune cells (white blood cells, eosinophils, monocytes, neutrophils, basophils) and antibodies (IgE, IL-17, IL-6, IL-10), offering a complete picture of your immune system's ability to handle various health challenges.
Who is the DNA Immunity & Inflammation Test For?
Anyone looking to understand their immune system and inflammation risks better will find this test ideal. It's perfect for those at risk of inflammatory conditions, autoimmune diseases, allergies, or wanting to boost their immune defense. Analyzing specific genetic markers, the test offers insights to guide lifestyle and dietary adjustments for improved health.
How Does It Work?
- Order Your Test: Get your DNA Immunity & Inflammation Test delivered to you.
- Collect Your Sample: Use our kit to collect your saliva sample easily.
- Send It Back: Return your sample with our prepaid envelope.
- Receive Results: Get a detailed genetic report in 6-8 weeks, explaining your immunity and inflammation status.
Report and Recommendations
GetTested provides a detailed report that not only deciphers your genetic data regarding immunity and inflammation but also offers personalized recommendations. These are designed to help you navigate and mitigate your risks for various health conditions, enhancing your immune health.
About the Sample Material
We ensure the privacy and security of your DNA and sample materials, destroying them after analysis. Your information remains completely anonymized, linked only to a unique test ID. We respect your privacy deeply, never sharing your data with third parties. You also have the option to delete your test results after accessing them.
FAQ
How is the DNA Immunity & Inflammation test carried out?
Our DNA Immunity & Inflammation test is a home test kit. After ordering, we will send you a kit with everything you need to collect the saliva sample. Then, simply return your sample to us in the pre-paid envelope.
How quickly will I receive my results?
Once we receive your sample, you can expect to get your results within 6-8 weeks.
When should I take the test?
The test can be collected at any time of the day.
Example Report
Example of DNA Immunity & Inflammation Test
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