DNA

ABCA6 (ATP-Binding Cassette Subfamily A Member 6): ABCA6 is a member of the ATP-binding cassette transporter family and is involved in cellular lipid transport. It plays a role in transporting lipids across cellular membranes and may be associated with lipid metabolism and homeostasis. ...

ABCB4 (ATP Binding Cassette Subfamily B Member 4): ABCB4 is a gene encoding a transporter protein involved in the export of phospholipids from liver cells into bile. This gene is critical for maintaining the composition of bile and preventing the buildup of harmful compounds in the liver. Mutations in ABCB4 can lead to liver diseases, including cholelithiasis...

ACAN (Aggrecan): ACAN is a gene that encodes aggrecan, a large proteoglycan found in the extracellular matrix of cartilage and other connective tissues. It plays a critical role in maintaining the structural integrity of cartilage and is essential for joint function. Mutations in ACAN can lead to skeletal disorders such as spondyloepimetaphyseal dysplasia, which affects bone and cartilage development....

ACVR1 (Activin Receptor Type 1): ACVR1 encodes a receptor for activin, a growth and differentiation factor. It is involved in signaling pathways that regulate cell proliferation and differentiation. Mutations in ACVR1 have been associated with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by the abnormal formation of bone in soft tissues....

ADAM15 (A Disintegrin and Metalloproteinase 15): ADAM15 is a member of the ADAM protein family, which are involved in cell adhesion, migration, and proteolysis of extracellular matrix proteins. ADAM15 may play a role in cell signaling and tissue remodeling....

ADAM17 (A Disintegrin And Metalloproteinase 17): ADAM17, also known as TACE (TNF-alpha converting enzyme), is involved in the shedding of membrane-bound proteins, including growth factors, cytokines, and receptors. It plays a key role in cell signaling, inflammation, and cancer. Dysregulation of ADAM17 activity is implicated in various diseases, including arthritis, cancer, and cardiovascular disorders....

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....

ADAMTS18 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18): ADAMTS18 encodes an enzyme involved in the processing of extracellular matrix components. Mutations in this gene have been linked to eye, skin, and skeletal abnormalities, reflecting its role in tissue development and maintenance....

ADCY3 (Adenylate Cyclase 3): ADCY3 encodes an enzyme called adenylate cyclase 3, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY3 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways....

ADGRB1 (Adhesion G Protein-Coupled Receptor B1): ADGRB1, also known as BAI1, is a member of the adhesion G protein-coupled receptor family. It's involved in various cellular processes, including phagocytosis of apoptotic cells and synaptic development in the brain. Mutations in ADGRB1 have been linked to certain neurological disorders....

ADGRG6 (Adhesion G Protein-Coupled Receptor G6): ADGRG6, also known as GPR126, is a receptor involved in cell adhesion and signal transduction. It plays a critical role in developmental processes such as myelination of peripheral nerves and cardiac development. Mutations in ADGRG6 have been associated with developmental abnormalities, particularly in the nervous and cardiovascular systems....

AGMO (Alkylglycerol Monooxygenase): AGMO is an enzyme involved in lipid metabolism, specifically in the oxygenation of ether lipids. It plays a role in the metabolism of bioactive lipids, which are important for cell signaling and inflammation. Dysregulation of AGMO may impact lipid-related disorders and inflammatory conditions....

plays a crucial role in blood pressure regulation and fluid balance. Mutations in the AGT gene can influence the risk of hypertension and cardiovascular diseases. Understanding AGT's function is key in managing these conditions....

ALG13 (Asparagine-Linked Glycosylation 13): ALG13 is a gene encoding a subunit of the UDP-N-acetylglucosaminyltransferase complex, involved in the early stages of glycosylation. Glycosylation is a critical post-translational modification process where carbohydrates are attached to proteins or lipids, affecting their folding, stability, and function. ALG13 plays a crucial role in the biosynthesis of the glycan precursor, essential for proper protein glycosylation in the endoplasmic reticulum. Mutations in the ALG13 gene have been linked to congenital disorders of glycosylation, which can result in a wide range of clinical symptoms, including developmental delay, epilepsy, and metabolic abnormalities. This highlights the gene's importance in...

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....

ANO3 (Anoctamin 3): ANO3 encodes a calcium-activated chloride channel, which is significant in smooth muscle function and neurological processes. Mutations in ANO3 are associated with movement disorders, particularly dystonia, a condition characterized by involuntary muscle contractions and spasms, indicating its role in neuromuscular signaling and function....

AP2A2 (Adaptor-Related Protein Complex 2 Alpha 2 Subunit): AP2A2 is part of the AP-2 adaptor complex, crucial for clathrin-mediated endocytosis. This process is vital for cellular internalization of receptors and other proteins, impacting cell signaling and nutrient uptake. Dysregulation of AP2A2 can affect neuronal development and synaptic function, with potential implications in neurological disorders....

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....

APOA1 (Apolipoprotein A-I): APOA1 is the major protein component of HDL in plasma and plays a central role in cholesterol transport and metabolism. It facilitates the removal of cholesterol from tissues to the liver for excretion. Variations in APOA1 are associated with changes in HDL levels and risks of cardiovascular disease....

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....

ARL4A (ADP-Ribosylation Factor-Like 4A): ARL4A is a member of the ADP-ribosylation factor (ARF) family of small GTPases. It participates in intracellular vesicle trafficking and membrane dynamics. ARL4A is involved in the regulation of membrane remodeling processes, including vesicle formation and membrane fusion events....

ARL4C (ADP Ribosylation Factor Like GTPase 4C): ARL4C is a member of the ADP-ribosylation factor family of GTP-binding proteins, involved in cellular signaling and membrane trafficking. It plays a role in cytoskeletal organization and cell motility, and its expression has been linked to the development and progression of certain cancers....

MICB (MHC Class I Polypeptide-Related Sequence B): MICB plays a significant role in the immune system, acting as a stress-induced ligand for the NKG2D receptor found on natural killer cells and certain T cells. It's involved in the immune surveillance against infected or transformed cells. Elevated expression of MICB can be triggered by cellular stress, such as viral infection or tumorigenesis, signaling immune cells to target and destroy the affected cells....

ATP2B4 (ATPase Plasma Membrane Ca2+ Transporting 4): ATP2B4 encodes a calcium pump responsible for the removal of calcium from cells. It plays a key role in intracellular calcium homeostasis, affecting muscle contraction, cell signaling, and neuronal activity. Dysregulation of ATP2B4 is implicated in cardiovascular diseases....

BBX (Bobby Sox Homolog): BBX is a transcriptional regulator involved in cell proliferation and differentiation. It plays a crucial role in embryonic development and has been implicated in regulating circadian rhythms. Disruptions in BBX function can lead to developmental abnormalities and impact circadian behavior....

BCAT1 (Branched Chain Amino Acid Transaminase 1): BCAT1 is a pivotal enzyme in the metabolism of branched-chain amino acids (BCAAs), which include leucine, isoleucine, and valine. Located primarily in the cytosol of tissues such as the brain and in various tumors, BCAT1 catalyzes the reversible transamination of BCAAs to their corresponding α-keto acids, initiating their catabolic pathway. This enzyme plays an essential role in nitrogen homeostasis and the synthesis of neurotransmitters in the brain, influencing cognitive functions and neurodevelopment. Beyond its metabolic functions, BCAT1 is implicated in the proliferation and metabolism of cancer cells, highlighting its potential as a biomarker...

BCL11B (B-Cell CLL/Lymphoma 11B): BCL11B is a transcription factor that plays a critical role in the development and differentiation of T-cells. It is also involved in neuronal development. Mutations or dysregulation in BCL11B have been linked to various types of hematological malignancies, including T-cell acute lymphoblastic leukemia, and to neurodevelopmental disorders....

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....

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....

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....

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....

C1D (Nuclear Nucleic Acid-Binding Protein C1D): C1D is a nuclear protein that is involved in nucleic acid binding and ribonucleoprotein complex assembly. It plays a role in RNA processing and transcription regulation. C1D has been studied in the context of DNA repair and may have implications in cancer biology....

CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit): CHRNB2 encodes a subunit of the nicotinic acetylcholine receptors, which are important for neuronal signaling. Mutations in this gene have been associated with epilepsy, particularly nocturnal frontal lobe epilepsy, underscoring its role in neuronal excitability and synaptic transmission....

CNTNAP5 (Contactin-Associated Protein-Like 5): CNTNAP5 is a gene associated with proteins that are part of the contactin-associated protein (CASPR) family. These proteins are involved in neural development and the formation of specialized cell-cell contacts in the nervous system. CNTNAP5 likely contributes to the organization of neural circuits and synaptic function....

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....

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....

CST7 (Cystatin F): CST7 encodes a protein inhibitor of cysteine proteases, playing a role in immune regulation. It's particularly important in controlling the activity of proteases in immune cells like lymphocytes and macrophages. Dysregulation of CST7 can impact immune responses and has been linked to immune disorders....

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....

CXCR2 (C-X-C Motif Chemokine Receptor 2): CXCR2 is a receptor for C-X-C motif chemokines, including CXCL5, and is primarily expressed on neutrophils. It plays a key role in mediating chemotactic responses and activating neutrophils during the inflammatory response. CXCR2 is involved in various pathological conditions, including inflammatory diseases, cancer, and chronic obstructive pulmonary disease (COPD), making it a target for therapeutic intervention in these disorders....

CXCR4 (C-X-C Motif Chemokine Receptor 4): CXCR4 is a gene that codes for a chemokine receptor involved in immune responses and cell migration. It binds to its ligand, CXCL12, and regulates the trafficking of immune cells. CXCR4 is crucial for immune system function and is implicated in various diseases, including cancer and HIV infection....

CYP19A1, also known as aromatase, is an enzyme that catalyzes the conversion of androgens (such as testosterone) into estrogens (such as estradiol). This process is crucial in the biosynthesis of estrogen, which plays essential roles in various physiological processes, including sexual development, reproduction, bone metabolism, and cardiovascular health. One of the primary functions of CYP19A1 is its role in the synthesis of estrogen from androgens. It is expressed in various tissues, including the ovaries, testes, placenta, adipose tissue, and brain. In females, CYP19A1 is primarily responsible for estrogen production in the ovaries, where it converts androgens produced by the adrenal glands...

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....

DACH1 (Dachshund Homolog 1): DACH1 is a transcription factor that is involved in the regulation of gene expression. It plays a role in various cellular processes, including development and differentiation. DACH1 has been studied in the context of cancer, where it can act as a tumor suppressor or oncogene depending on the cancer type....

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....

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....

DBX1 (Developing Brain Homeobox 1): DBX1 is a transcription factor important in the development of the spinal cord and nervous system. It plays a role in the differentiation of neural progenitor cells and is critical for proper neural development....

DCAF4 (DDB1 And CUL4 Associated Factor 4): DCAF4 is a component of the CUL4-DDB1 ubiquitin ligase complex, which plays a crucial role in protein ubiquitination and degradation, a key mechanism for regulating protein levels within cells. This process is vital for maintaining cellular homeostasis and responding to stress. DCAF4 specifically contributes to the selection of substrates for ubiquitination, influencing cell cycle regulation, DNA repair, and signal transduction. Alterations in the function of components like DCAF4 can lead to cellular dysregulation and have been linked to the development of cancer and other diseases, highlighting its role in proteostasis and cellular integrity....

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....

DIO3, also known as Type 3 Deiodinase, is a crucial enzyme involved in the regulation of thyroid hormone activity. Positioned primarily within various tissues, including the liver, brain, and placenta, DIO3 plays a pivotal role in controlling thyroid hormone levels and mediating tissue-specific responses to thyroid hormones. One of the key functions of DIO3 is its ability to catalyze the inactivation of thyroid hormones, particularly thyroxine (T4), by converting it into an inactive metabolite known as reverse triiodothyronine (rT3). This enzymatic activity helps fine-tune thyroid hormone signaling by reducing the availability of active thyroid hormones in target tissues, thereby modulating metabolic...

DIPK2A (Divergent Protein Kinase Domain 2A): DIPK2A is a lesser-known gene with limited information available. It may be involved in kinase activity, impacting cellular signaling pathways....

DLG5 (Discs Large Homolog 5): DLG5 is a member of the Discs Large (DLG) protein family and is involved in the organization of cellular structures and signal transduction at cell junctions. It plays a role in maintaining epithelial cell integrity and may have implications in inflammatory bowel diseases (IBD) such as Crohn's disease....

DMBX1 (Diencephalon/Mesencephalon Homeobox 1): DMBX1 is a homeobox gene implicated in early brain development, particularly in the diencephalon and mesencephalon regions. Its role is crucial in the formation and differentiation of various brain structures. Alterations in DMBX1 expression or function may have implications in developmental brain disorders....

DNAJB4 (DnaJ Heat Shock Protein Family (Hsp40) Member B4): DNAJB4 is a co-chaperone that assists in protein folding, degradation, and assembly. It helps in managing cellular stress responses, particularly in response to heat shock. DNAJB4 is important in maintaining cellular homeostasis and protecting cells from stress-induced damage....

DOCK9 (Dedicator of Cytokinesis 9): DOCK9 is a gene that encodes a guanine nucleotide exchange factor (GEF) protein. GEFs play a vital role in regulating the activity of Rho family GTPases, which are central to cellular processes like cytoskeletal dynamics and cell migration. DOCK9's functions are related to cell morphology, adhesion, and migration, making it relevant in developmental biology and cancer metastasis....

DOK6 (Docking Protein 6): DOK6 is part of the DOK family proteins, acting as substrates and regulators of tyrosine kinases. It's involved in signaling pathways related to nerve cell development and function. DOK6 has been implicated in neuronal differentiation and has potential relevance in neurological disorders....

DTWD2 (DTW Domain Containing 2): DTWD2 is a relatively less characterized gene but is believed to be involved in protein ubiquitination, a process crucial for protein degradation and regulation. It may play a role in cellular protein quality control and has potential implications in various cellular processes, including cell cycle regulation and response to stress....

DUSP15 (Dual Specificity Phosphatase 15): DUSP15 is a member of the dual-specificity protein phosphatases, regulating aspects of cell signaling by dephosphorylating target substrates. It's involved in the modulation of pathways that control cell growth and differentiation. The specific physiological and pathological roles of DUSP15 are yet to be fully elucidated....

EDAR (Ectodysplasin A Receptor): EDAR is a receptor important for the development of skin appendages like hair, teeth, and sweat glands. Mutations in this gene can lead to ectodermal dysplasias, a group of disorders affecting the development of these structures....

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....

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....

ETV3 (ETS Variant Transcription Factor 3): ETV3 is part of the ETS family of transcription factors, known for their roles in regulating gene expression involved in cell growth, development, and differentiation. ETV3 acts primarily as a transcriptional repressor and is involved in various biological processes, including immune response regulation....

FCER1A (High Affinity Immunoglobulin E Receptor Subunit Alpha): FCER1A is crucial in allergic reactions, binding to immunoglobulin E (IgE) and activating mast cells and basophils. This activation releases histamine and other mediators of inflammation, leading to allergic symptoms. FCER1A's role in allergies and asthma makes it a focal point for developing treatments that mitigate allergic responses....

FFAR4 (Free Fatty Acid Receptor 4): FFAR4, also known as GPR120, is a receptor for omega-3 fatty acids and plays a significant role in metabolic regulation and inflammatory processes. It is involved in the regulation of insulin sensitivity, anti-inflammatory responses, and appetite control. Research suggests that FFAR4 is a potential therapeutic target for metabolic disorders like obesity and type 2 diabetes....

FOXK1 (Forkhead Box K1): FOXK1 is a member of the forkhead box (FOX) family of transcription factors, characterized by a distinct DNA-binding forkhead box. FOXK1 plays a pivotal role in regulating gene expression involved in cell growth, proliferation, differentiation, and longevity. Its significance is particularly noted in muscle development and regeneration, as well as in the regulation of metabolic processes. The activity of FOXK1 has been linked to various pathological conditions, including cancer, making it a gene of interest in both developmental biology and disease research....

FTO (Fat Mass and Obesity-Associated Protein): The FTO gene has garnered significant attention due to its strong association with obesity and body mass index (BMI) in various populations. It's thought to influence metabolic processes like energy homeostasis and fat storage. Research suggests that variations in the FTO gene can affect appetite and energy expenditure, making it a critical gene in understanding and potentially treating obesity....

GADL1 (Glutamate Decarboxylase Like 1): GADL1 is similar to glutamate decarboxylases that synthesize the neurotransmitter GABA, but its specific function is less clear. It may play a role in amino acid metabolism and neurotransmitter synthesis, and is of interest in the study of neurological function and disorders....

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....

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....

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....

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....

GPSM1 (G Protein Signaling Modulator 1): GPSM1 is involved in modulating G protein signaling, crucial for various cellular responses to external stimuli. It plays a role in cell polarization and directional movement, and has been studied in the context of cancer, particularly in relation to its potential role in tumor cell migration and invasion....

GSTM3 (Glutathione S-Transferase Mu 3): GSTM3 is part of the glutathione S-transferase family, which plays a significant role in detoxifying endogenous and exogenous compounds. It is involved in the metabolism of carcinogens, drugs, and products of oxidative stress, and variations in this gene can affect susceptibility to various diseases, including cancer and neurodegenerative disorders....

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....

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....

IGF1R (Insulin-like Growth Factor 1 Receptor): IGF1R encodes a receptor critical for responding to insulin-like growth factors (IGFs). Its central role in growth and development is well-established. IGF1R influences various cellular processes, including growth, survival, and metabolism regulation. Dysregulation of this receptor has been implicated in several diseases, making it a subject of interest in both developmental biology and clinical medicine....

IGF2 (Insulin-Like Growth Factor 2): IGF2 plays a crucial role in growth and development, particularly during fetal development. It is part of the insulin-like growth factor system, which has significant effects on cell growth, proliferation, and survival. IGF2 is also involved in muscle growth and differentiation and has been linked to various cancers due to its cell proliferation-promoting effects. The regulation of IGF2 is important in understanding growth disorders and potential cancer therapies....

IRS1 (Insulin Receptor Substrate 1): IRS1 is a pivotal signaling molecule involved in mediating the cellular response to insulin and various growth factors. It acts as an adaptor protein, linking activated insulin receptors to downstream signaling pathways. Through its interaction with multiple intracellular signaling molecules, IRS1 regulates key cellular processes such as glucose uptake, glycogen synthesis, protein synthesis, and cell growth and proliferation. Dysregulation of IRS1 signaling is implicated in insulin resistance, a hallmark of type 2 diabetes and other metabolic disorders, as well as in cancer and cardiovascular diseases. The intricate network of IRS1-mediated signaling pathways underscores its significance...

IRX6 (Iroquois Homeobox 6): IRX6 is part of the Iroquois homeobox gene family, which plays a crucial role in early development. As a transcription factor, it's involved in the patterning and morphogenesis of various organs and tissues, particularly in the heart and oral-facial regions. Disruptions in IRX6 can lead to developmental anomalies, and it is a gene of interest in studies of congenital disorders and craniofacial development....

KCTD9 (Potassium Channel Tetramerization Domain Containing 9): KCTD9 is a gene associated with a domain involved in protein-protein interactions and the assembly of protein complexes. It may play a role in the formation or regulation of protein complexes related to ion channel function or other cellular processes....

MMUT (Methylmalonyl-CoA mutase): MMUT is a critical enzyme involved in the metabolism of branched-chain amino acids and fatty acids. Specifically, MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an essential step in the breakdown of certain amino acids and lipids for energy production. This process occurs within the mitochondria, where MMUT helps maintain cellular energy balance and provides substrates for the citric acid cycle. Deficiencies in MMUT activity, often due to mutations in the MMUT gene, can lead to methylmalonic acidemia (MMA), a rare inherited metabolic disorder characterized by the accumulation of methylmalonic acid and its metabolites in the body. MMA...

NSUN3 (NOP2/Sun RNA Methyltransferase Family Member 3): NSUN3 is an RNA methyltransferase involved in the modification of mitochondrial tRNAs. It plays a role in mitochondrial protein synthesis and function. Mutations in NSUN3 have been associated with mitochondrial diseases....

NUDT15 (Nudix Hydrolase 15): NUDT15 is an enzyme involved in the metabolism of thiopurine drugs, such as azathioprine, mercaptopurine, and thioguanine. Genetic variations in NUDT15 can lead to reduced enzyme activity, increasing the risk of severe side effects like bone marrow suppression. Testing NUDT15 helps determine the appropriate thiopurine dosage to minimize toxicity and improve treatment safety.

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....

PLN (Phospholamban): Phospholamban is a regulatory protein primarily found in cardiac muscle cells, where it plays a crucial role in the regulation of cardiac contractility and relaxation. This small transmembrane protein modulates the activity of the sarcoplasmic reticulum calcium ATPase (SERCA), which is responsible for pumping calcium ions back into the sarcoplasmic reticulum during cardiac relaxation. By inhibiting SERCA at baseline conditions, PLN helps maintain calcium homeostasis and prevents excessive calcium uptake during diastole. However, upon stimulation, PLN is phosphorylated, relieving its inhibitory effect on SERCA and enhancing calcium reuptake, thereby promoting cardiac muscle relaxation and ensuring efficient cardiac function....

SFTPA1 (Surfactant Protein A1): SFTPA1 encodes a protein crucial in lung function, particularly in the innate immune response of the respiratory tract. It helps in reducing surface tension in the lungs and plays a role in defending against respiratory pathogens. Mutations in SFTPA1 are associated with respiratory diseases....

SHISA4 (Shisa Family Member 4): SHISA4 is involved in the regulation of synaptic function and neuronal excitability. It modulates the activity of key receptors in the central nervous system, including AMPA and NMDA receptors, and is implicated in the regulation of neuronal signaling and plasticity. Its role in synaptic modulation makes it a gene of interest in the study of neurological disorders and synaptic dysfunctions....

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....

SLC26A8 (Solute Carrier Family 26 Member 8): SLC26A8 is a transporter protein, particularly important in testis for sperm motility and fertility. It is involved in anion transport and is essential for proper sperm function and male fertility....

SLC2A9 (Solute Carrier Family 2 Member 9): SLC2A9 encodes a transporter protein involved in urate transport in the kidneys. It plays a crucial role in regulating uric acid levels in the blood and is associated with gout susceptibility....

SLC6A2 (Solute Carrier Family 6 Member 2): SLC6A2, also known as the norepinephrine transporter, is responsible for the reuptake of norepinephrine into presynaptic nerve terminals. It is a target for certain antidepressants and plays a role in regulating mood and alertness. Dysfunctions in SLC6A2 are implicated in psychiatric and neurological disorders, including depression and attention deficit hyperactivity disorder (ADHD)....

SMIM21 (Small Integral Membrane Protein 21): SMIM21 is a relatively less characterized protein, and its specific role in cellular processes is not well established. As a membrane protein, it might be involved in cellular signaling or transport processes, but further research is needed to elucidate its function and significance in human health and disease....

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....

SPATA2L (Spermatogenesis-associated protein 2-like): SPATA2L is a protein that shares sequence similarity with SPATA2, a known regulator of cell death and inflammation pathways. While the specific function of SPATA2L is still being elucidated, studies suggest its potential involvement in cellular processes such as apoptosis, autophagy, and immune response regulation. SPATA2L may play a role in modulating signaling pathways involved in cell survival and death decisions, similar to its homolog SPATA2. These pathways are critical for maintaining tissue homeostasis and responding to cellular stressors, such as DNA damage or infection. Dysregulation of SPATA2L expression or function could potentially impact these processes, leading...

SPATA5 (Spermatogenesis-Associated 5): SPATA5 is a gene associated with spermatogenesis, the process of sperm cell development. It is crucial for male fertility as it plays a role in sperm formation. Mutations in SPATA5 can lead to fertility issues and are linked to male infertility....

SSBP3 (Single Stranded DNA Binding Protein 3): SSBP3 is involved in DNA repair and replication processes. It binds to single-stranded DNA and may play a role in maintaining genomic stability. Its function is critical in cellular response to DNA damage and has potential implications in cancer biology....

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....

UNCX (Unc-4 Homeobox): UNCX encodes a homeobox-containing transcription factor involved in neuronal development and axon guidance. It plays a role in specifying neuronal identity and connectivity in the developing nervous system....

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....

XKR9 (X-Kell Blood Group Precursor-Related Family Member 9): XKR9 is a member of the X-Kell blood group precursor-related family. Its specific functions and implications are areas of ongoing research....