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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.

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.

DNA Immunity & Inflammation Test

NCK2 (NCK Adaptor Protein 2): NCK2 is a protein that links receptor tyrosine kinases to signalling pathways regulating cell growth, movement, and cytoskeletal organisation. It participates in multiple signalling networks that enable cells to respond to external stimuli. Dysregulation of NCK2 has been associated with cancer progression and metastasis, highlighting its role in cell signalling and tumour development.

NCK2

NSMAF (Neutral Sphingomyelinase Activation-Associated Factor): NSMAF is a gene that encodes a protein involved in regulating sphingomyelinase, an enzyme essential for sphingolipid metabolism. It contributes to cell signalling, particularly in stress responses and the initiation of apoptosis. NSMAF is of interest for its potential roles in inflammation, neurodegeneration, and other disease-related processes.

NSMAF

GLRB (Glycine Receptor Beta Subunit): GLRB is a gene that encodes a component of the glycine receptor, a chloride channel essential for inhibitory neurotransmission in the spinal cord and brainstem. This receptor plays a key role in regulating motor and sensory functions, and mutations in GLRB can lead to neurological conditions such as hyperekplexia, characterised by an exaggerated startle reflex.

GLRB

MST1 (Macrophage Stimulating 1): MST1 is a gene that encodes a protein involved in activating macrophages, essential cells of the immune system. It contributes to inflammation and immune defence and has been linked to the development of autoimmune disorders and certain cancers.

MST1

MAN1A2 (Mannosidase Alpha Class 1A Member 2): MAN1A2 is an enzyme involved in the modification of N-linked oligosaccharides during glycoprotein biosynthesis. It plays a role in protein processing and quality control within the endoplasmic reticulum, aiding in correct protein folding and maintaining cellular homeostasis.

MAN1A2

AGA (Aspartylglucosaminidase): AGA is an enzyme crucial for breaking down glycoproteins within cells. A deficiency in AGA results in aspartylglucosaminuria, a lysosomal storage disorder characterised by the accumulation of glycoprotein-derived oligosaccharides, leading to developmental delays and other symptoms.

BIN1 (Bridging Integrator 1): BIN1 is a protein that plays a crucial role in regulating cellular membrane dynamics. It is involved in key processes such as endocytosis and shaping membrane curvature. BIN1 acts as a bridging factor, aiding in the formation of membrane tubules that are essential for various cellular functions.

BIN1

SIK2 (Salt-Inducible Kinase 2): SIK2 is a kinase belonging to the AMPK family that helps regulate the body's energy balance. It affects lipid and glucose metabolism and has been associated with conditions such as obesity, diabetes, and metabolic changes related to cancer.

SIK2

FGF5 (Fibroblast Growth Factor 5): FGF5 is a gene that encodes a protein from the fibroblast growth factor family, which is involved in cell growth, differentiation and signalling. FGF5 regulates hair growth cycles and influences hair length across species. It also contributes to tissue development and repair, including roles in neural development. Abnormal FGF5 activity has been linked to certain diseases, including cancer.

FGF5

ISCA2 (Iron-Sulfur Cluster Assembly 2): ISCA2 is a protein involved in the formation of iron-sulphur clusters, which are essential for proper mitochondrial function and cellular energy production. ISCA2 plays a key role in maintaining energy metabolism within cells, and mutations in this gene can lead to mitochondrial disorders with diverse clinical symptoms.

ISCA2

ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is a member of the zinc finger protein family, known for their roles in DNA binding and gene regulation. Although its precise function is not yet fully understood, ZCCHC7 is thought to be involved in processes such as transcriptional regulation, RNA processing, and DNA repair, affecting various cellular activities and potentially contributing to disease mechanisms.

ZCCHC7

SORCS1 (Sortilin-Related VPS10 Domain Containing Receptor 1): SORCS1 is a gene that encodes a receptor involved in protein trafficking and sorting within cells. This receptor plays an important role in regulating receptor signalling and is linked to neural development and synaptic function.

SORCS1

FBXO8 (F-Box Protein 8): FBXO8 is a member of the F-box protein family, which plays a key role in the ubiquitin-proteasome system — the body’s way of regulating protein degradation and turnover. FBXO8 functions by helping to identify specific proteins for breakdown, thereby influencing important cellular activities such as the cell cycle, signal transduction, and immune response. While its exact targets and roles are still under investigation, FBXO8’s involvement in protein degradation highlights its importance in maintaining cellular balance and its potential link to diseases involving protein misfolding or aggregation, such as neurodegenerative disorders.

FBXO8

ISL1 (ISL LIM Homeobox 1): ISL1 is a transcription factor that regulates the development and differentiation of key tissues, including the heart, motor neurones, and sensory neurones. It plays an essential role in guiding these cells during embryonic growth and maintaining their function in adults. Mutations in ISL1 are linked to congenital heart defects and other developmental disorders.

ISL1

CCDC167 (Coiled-Coil Domain Containing 167): CCDC167 is a gene that encodes a protein featuring a coiled-coil domain, a structural motif known for facilitating protein-protein interactions. While its precise biological roles are still under investigation, CCDC167 may be involved in significant cellular processes yet to be fully characterised.

CCDC167

IFIH1 (Interferon Induced With Helicase C Domain 1): IFIH1, also known as MDA5, is a gene that encodes a protein functioning as an intracellular sensor for viral RNA. It plays a crucial role in innate immunity by detecting viral replication and initiating immune responses. Variations in IFIH1 have been associated with autoimmune diseases such as type 1 diabetes and systemic lupus erythematosus.

IFIH1

ZFP57 (ZFP57 Zinc Finger Protein): ZFP57 is a KRAB-zinc finger protein that plays a crucial role in regulating genomic imprinting and DNA methylation. It is essential for maintaining the epigenetic stability of imprinted genes during early embryonic development. Mutations in ZFP57 are linked to transient neonatal diabetes and other imprinting disorders, underlining its importance in epigenetic regulation and developmental processes.

ZFP57

CCBE1 (Collagen and Calcium Binding EGF Domains 1): CCBE1 is a gene essential for lymphangiogenesis, the formation of lymphatic vessels. It regulates vascular endothelial growth factor C (VEGF-C), a key factor in the development of the lymphatic system. Mutations in CCBE1 can cause Hennekam syndrome, a rare disorder characterised by lymphoedema, lymphangiectasia, and intellectual disability.

CCBE1

IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor that belongs to the Iroquois homeobox gene family. It plays a crucial role in embryonic development by regulating the patterning and formation of tissues such as the heart and nervous system. Dysregulation of IRX2 has been associated with developmental disorders and may also contribute to cancer.

IRX2

NBPF3 (Neuroblastoma Breakpoint Family, Member 3): NBPF3 is a gene belonging to the neuroblastoma breakpoint family, with functions that are not yet fully understood. It may contribute to neurological development or function and could be associated with the development of neuroblastoma, a childhood cancer.

NBPF3

KNDC1 (Kinase Non-Catalytic C-Lobe Domain Containing 1): KNDC1 is a gene that encodes a protein containing kinase-like domains but does not possess enzymatic kinase activity. Although its precise functions are not yet fully understood, KNDC1 is thought to be involved in various cellular processes. Current research seeks to clarify its role in cell biology and function.

KNDC1

ENG (Endoglin): ENG is a glycoprotein that functions as part of the TGF-beta receptor complex and plays a key role in angiogenesis, vascular development, and remodelling. Mutations in this gene are linked to hereditary haemorrhagic telangiectasia, a condition characterised by abnormal blood vessel formation.

SIRT1 (Sirtuin 1): SIRT1 is a protein belonging to the sirtuin family, which regulates essential cellular processes through protein deacetylation. SIRT1 plays a particularly important role in promoting longevity and managing the ageing process. It influences gene expression, supports DNA repair, and helps cells respond to stress, making it a crucial factor in ageing and age-related health conditions.

SIRT1

AEBP2 (Adipocyte Enhancer Binding Protein 2): AEBP2 is a DNA-binding transcription factor involved in regulating gene expression and adipocyte differentiation. It is also a component of the Polycomb Repressive Complex 2 (PRC2), contributing to the epigenetic silencing of genes during development and cell differentiation.

AEBP2

HUNK (Hormonally Up-Regulated Neu-Associated Kinase): HUNK is a gene that encodes a protein kinase regulated by hormonal signals. It has been associated with breast cancer, where overexpression may promote tumour growth and metastasis. By participating in intracellular signalling pathways influenced by hormones such as oestrogen, HUNK plays a significant role in cancer biology and is being explored as a potential therapeutic target.

HUNK

NDUFA11 (NADH:Ubiquinone Oxidoreductase Subunit A11): NDUFA11 is a gene that encodes a protein subunit of mitochondrial complex I, the first and largest enzyme complex in the electron transport chain. It supports the assembly, stability and electron transfer of complex I from NADH to ubiquinone, aiding in the generation of the proton gradient necessary for ATP production via oxidative phosphorylation. Mutations in NDUFA11 can impair energy metabolism and contribute to mitochondrial diseases and related disorders.

NDUFA11

JHY (Jellybean Homologue Y): JHY is a protein involved in intracellular signalling pathways that regulate key aspects of cell behaviour, including proliferation, differentiation, migration, and survival. By influencing these processes, JHY helps maintain cellular homeostasis. Alterations in its expression or function have been linked to pathological conditions, including cancer.

KCNK2 (Potassium Two Pore Domain Channel Subfamily K Member 2): KCNK2 is a gene that encodes a protein forming part of a potassium channel. This channel helps regulate the electrical activity of neurones and plays a key role in controlling neuronal excitability. KCNK2 channels are important for physiological processes such as sleep regulation and anaesthesia. Mutations or dysfunctions in KCNK2 have been linked to neurological conditions like epilepsy and paroxysmal movement disorders.

KCNK2

ASIP (Agouti Signalling Protein): ASIP is a protein that influences pigmentation by regulating melanin production in the skin and hair. It works by blocking melanocortin receptors, which helps determine the type and distribution of melanin. Variations in ASIP expression affect pigmentation patterns, skin cancer risk, and metabolic regulation, underscoring its important roles in both colouration and metabolic health.

ASIP

GNB3: GNB3 is a gene that encodes a subunit of G proteins, which help transmit signals from outside the cell to the inside. A well-known variant (C825T) has been linked to traits such as hypertension and obesity, making GNB3 important in studying disease risk and individual responses to medications.

GNB3

UPB1 (Beta-Ureidopropionase 1): UPB1 is an enzyme involved in the breakdown of pyrimidines, which are the building blocks of nucleotides in the body. Proper UPB1 function is essential for nucleotide metabolism, and deficiencies can cause beta-ureidopropionase deficiency, a rare condition associated with neurological symptoms and developmental delays.

UPB1

SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein with SH3 and SYLF domains, suggesting a role in protein-protein interactions. Although its exact functions are still being researched, SH3YL1 is believed to be involved in cellular signalling pathways and the regulation of membrane dynamics.

SH3YL1

ZNF365 (Zinc Finger Protein 365): ZNF365 is a protein that belongs to the zinc finger family, known for its role in binding DNA and regulating gene expression. It is involved in the DNA damage response and repair, helping to maintain genomic stability. Variants in ZNF365 have been linked to an increased risk of diseases such as breast cancer and Crohn’s disease, emphasising its importance in cellular defence and disease susceptibility.

ZNF365

ZNF438, also known as Zinc Finger Protein 438, is a member of the zinc finger protein family, distinguished by zinc finger domains that facilitate DNA binding and protein interactions. These proteins play crucial roles in regulating gene expression, chromatin remodelling, and RNA processing. ZNF438 primarily acts as a transcription factor, binding to specific DNA sequences to regulate the activity of target genes, often collaborating with other transcriptional regulators and chromatin modifiers to precisely control cellular processes.

ZNF438

GIGYF1 (GRB10 Interacting GYF Protein 1): GIGYF1 is an adaptor protein that plays a key role in cellular signalling pathways, especially those linked to the insulin and IGF-1 receptors. By interacting with the GRB10 protein, GIGYF1 helps regulate cell growth, differentiation, and metabolism. It is important for maintaining insulin sensitivity and glucose balance, making it relevant to metabolic control and diabetes. Additionally, GIGYF1 is involved in controlling mRNA translation and stability, influencing gene expression at the post-transcriptional level.

GIGYF1

UBL3 (Ubiquitin-Like 3): UBL3 is a gene that encodes a protein similar to ubiquitin, a key molecule in the protein degradation pathway. UBL3 is involved in protein modification and plays a role in essential cellular processes such as signal transduction and membrane trafficking. Dysregulation of UBL3 may contribute to various cellular malfunctions.

UBL3

GUCY2F (Guanylate Cyclase 2F): GUCY2F is a gene that encodes guanylate cyclase, an enzyme responsible for regulating cyclic GMP (cGMP) levels within cells. It plays a key role in signal transduction and is especially important in sensory neurons, including the photoreceptor cells of the retina.

GUCY2F

FIBIN (Fibin): FIBIN is a gene that encodes a protein essential for embryonic development, particularly in the formation of the heart and blood vessels. It is involved in signalling pathways that guide cell differentiation and tissue formation. Mutations in FIBIN have been linked to developmental disorders affecting cardiovascular structure and function.

FIBIN

KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9): KCNK9 encodes a two-pore-domain potassium channel, which belongs to the potassium channel family. These channels help regulate the resting membrane potential and control neuronal excitability. Mutations in KCNK9 are associated with Birk-Barel mental retardation dysmorphism syndrome, highlighting its crucial role in neural development and function.

KCNK9

HLA-A (Human Leucocyte Antigen A): HLA-A is a gene that encodes an MHC class I protein responsible for presenting peptide antigens to CD8⁺ T cells. It plays a key role in immune defence against pathogens and tumour cells. Variations in HLA-A can affect susceptibility to infections, autoimmune diseases, and transplant rejection, making it important in immune regulation and a potential target for immunotherapy.

HLA-A

FOXQ1 (Forkhead Box Q1): FOXQ1 is a member of the forkhead box family of transcription factors that regulate gene expression related to cell growth, proliferation, and differentiation. FOXQ1 plays a key role in the development and progression of various cancers, particularly by influencing the epithelial-mesenchymal transition process.

FOXQ1

KATNIP (Katanin Interacting Protein): KATNIP is a gene that encodes a protein involved in regulating the katanin complex, which is responsible for severing microtubules. Through this interaction, KATNIP may influence microtubule dynamics, affecting cell division, movement, and intracellular transport.

KATNIP

IKZF2 (IKAROS Family Zinc Finger 2): IKZF2, also known as Helios, is a transcription factor vital for T-cell development and differentiation. It helps preserve regulatory T cell identity and supports immune tolerance. Dysregulation of IKZF2 has been associated with immune disorders and is under investigation for its potential role in cancer immunotherapy.

IKZF2

KRT73 (Keratin 73): KRT73 is a gene that encodes a type of keratin protein essential for the structural integrity of hair and nails. Keratin 73 plays a crucial role in forming the hair shaft. Changes or mutations in this gene can affect hair texture and strength, leading to various hair disorders. Research on KRT73 helps improve understanding of hair biology and potential treatments for hair-related conditions.

KRT73

COL27A1 (Collagen Type XXVII Alpha 1 Chain): COL27A1 is a gene that encodes a collagen protein essential for the structure and function of connective tissues. This type of collagen plays a vital role in cartilage formation and skeletal development. Mutations in COL27A1 have been associated with disorders affecting bone and cartilage, making it a key focus of research into musculoskeletal health and potential therapeutic targets.

COL27A1

PPFIA2 (PTPRF Interacting Protein Alpha 2): PPFIA2 is a protein from the liprin family that plays a crucial role in cell communication and adhesion. It is involved in regulating the formation and maintenance of synapses, particularly within the central nervous system. PPFIA2 affects the development and plasticity of neural networks, and alterations in its function may be associated with neurological disorders.

PPFIA2

KAT6B (Lysine Acetyltransferase 6B): KAT6B is a gene that encodes a histone acetyltransferase involved in chromatin remodelling and gene regulation. It plays key roles in development, cell cycle control, and DNA repair. Mutations in KAT6B are linked to rare genetic disorders marked by skeletal abnormalities and developmental delays, including Genitopatellar and Ohdo syndromes.

KAT6B

EPHB2 (Ephrin Type-B Receptor 2): EPHB2 is a receptor tyrosine kinase that plays a key role in cell-to-cell communication and tissue organisation. By interacting with ephrin ligands, EPHB2 regulates important processes such as cell migration, adhesion, and axon guidance during development and throughout life. It is essential for maintaining the structure and function of tissues, especially in the nervous system and epithelial layers. Dysregulation of EPHB2 signalling has been linked to conditions like cancer progression, neurodevelopmental disorders, and tissue malformations.

EPHB2

HDHD2 (Haloacid Dehalogenase-Like Hydrolase Domain Containing 2): HDHD2 is a gene that encodes an enzyme belonging to the haloacid dehalogenase-like hydrolase family. Although its precise biological functions are not fully established, HDHD2 is thought to be involved in cellular metabolic processes and signalling pathways.

HDHD2

SLC5A6 (Solute Carrier Family 5 Member 6): SLC5A6 is a gene that encodes the sodium-dependent vitamin transporter, crucial for the absorption of biotin (a B vitamin) and possibly other water-soluble vitamins. This transporter plays an important role in maintaining sufficient vitamin levels in the body, with deficiencies potentially leading to issues such as skin problems, hair loss, and neurological symptoms.

SLC5A6

AGPAT5 (1-Acylglycerol-3-Phosphate O-Acyltransferase 5): AGPAT5 is an enzyme that plays a key role in the biosynthesis of phospholipids, essential components of cell membranes. It catalyses the conversion of lysophosphatidic acid to phosphatidic acid, a critical step in producing various phospholipids. Dysregulation of AGPAT5 can disrupt lipid metabolism and is associated with conditions such as obesity and lipodystrophy.

AGPAT5

SRSF6 (Serine and Arginine Rich Splicing Factor 6): SRSF6 is a gene that encodes a protein involved in mRNA splicing, a crucial process for producing diverse proteins from the genome. It helps regulate alternative splicing, affecting gene expression and protein function. Mutations in SRSF6 have been linked to skin and mucosal disorders.

SRSF6

PDE4C (Phosphodiesterase 4C): PDE4C is a gene that encodes the enzyme phosphodiesterase 4C, which helps regulate intracellular levels of cAMP, a key molecule in cellular signalling. This enzyme plays an important role in cell communication and is a target for medications used to treat respiratory conditions such as asthma and chronic obstructive pulmonary disease (COPD).

PDE4C

ZNF616 is a gene that encodes a protein belonging to the zinc finger family, characterised by its DNA-binding zinc finger domains. Located in the cell nucleus, ZNF616 functions as a transcriptional regulator by binding to specific DNA sequences and influencing gene expression. It can modulate the activity of target genes by interacting with promoter or enhancer regions, either activating or repressing transcription.

ZNF616

SIGLEC1 (Sialic Acid Binding Ig-Like Lectin 1): SIGLEC1 is a protein, also known as sialoadhesin or CD169, that belongs to the family of I-type lectins. It recognises sialic acid residues on cell surfaces and is primarily expressed on macrophages. SIGLEC1 plays important roles in cell-to-cell interactions, binding to sialylated pathogens, and modulating immune responses. It is involved in immune surveillance and has been linked to the development of infectious diseases and some cancers.

SIGLEC

GNMT (Glycine N-Methyltransferase) is an essential enzyme involved in methionine metabolism and liver detoxification. It helps regulate homocysteine levels by converting excess methionine into sarcosine, preventing harmful methionine accumulation and supporting liver health. Dysfunction of GNMT is linked to liver conditions such as fatty liver disease and liver cancer. Ongoing research emphasises GNMT’s protective role against liver toxicity and its potential as a marker for assessing liver health.

GNMT

HLA-DMA (Major Histocompatibility Complex, Class II, DM Alpha): HLA-DMA is a protein involved in the immune system’s antigen presentation pathway. It plays a crucial role in regulating peptide loading onto MHC class II molecules, enabling immune cells to effectively present antigens to T cells. This function is vital for initiating immune responses against pathogens and maintaining immune tolerance. Variations in HLA-DMA activity can affect immune function and are associated with several autoimmune conditions, emphasising its importance in immune regulation and disease risk.

HLA-DMA

SLC7A11 (Solute Carrier Family 7 Member 11): SLC7A11 is a key component of the xCT transporter system, responsible for exchanging extracellular cystine with intracellular glutamate. This exchange is essential for maintaining intracellular glutathione levels, which protect cells against oxidative stress. Overexpression of SLC7A11 has been associated with enhanced survival of cancer cells under oxidative conditions, making it a significant focus in cancer therapy research.

SLC7A11

G2E3 (G2/M-Phase Specific E3 Ubiquitin Protein Ligase): G2E3 is a gene that encodes an E3 ubiquitin ligase involved in regulating the cell cycle, particularly during the G2/M phase transition. It assists in tagging proteins for degradation, thereby controlling key cell cycle regulators. Dysregulation of G2E3 may result in cell cycle disturbances and contribute to the development of cancer.

G2E3

CBLL1 (Cbl Proto-Oncogene Like 1): CBLL1 is a gene that encodes a protein related to the Cbl family, which plays a role in signal transduction and regulation of cellular activities. This protein is involved in the ubiquitin-proteasome pathway, helping control protein degradation and turnover within the cell.

CBLL1

CACNB2, also known as Calcium Channel Voltage-Dependent Beta 2 Subunit, is a protein that plays a key role in the function of voltage-gated calcium channels (VGCCs). These channels regulate calcium entry into cells in response to changes in membrane potential, influencing vital processes such as neurotransmitter release, muscle contraction, and gene expression. CACNB2 serves primarily as a regulatory subunit of VGCCs, interacting with the pore-forming alpha subunits to modulate their voltage sensitivity, channel opening and closing kinetics, and calcium conductance.

CACNB2

TNIP1 (TNFAIP3 Interacting Protein 1): TNIP1 is a protein that works closely with TNFAIP3 to regulate immune responses by inhibiting NF-kB activation. It plays a key role in maintaining immune balance and preventing autoimmunity. Dysregulation of TNIP1 has been linked to several autoimmune diseases, highlighting its importance in immune system regulation. Current research is investigating TNIP1’s potential in understanding and treating autoimmune conditions.

TNIP1

CPXM2 (Carboxypeptidase X, M14 Family Member 2): is a gene that encodes an enzyme involved in the modification of proteins by removing terminal amino acids. This process is essential in various biological functions, including protein maturation and degradation. The enzyme’s role in developmental processes and neural activity has also been highlighted.

CPXM2

GCKR (Glucokinase Regulator): GCKR is a gene that encodes a protein responsible for regulating glucokinase, an enzyme essential in glucose metabolism. Variations in GCKR can affect glucose homeostasis and have been linked to diabetes and other metabolic disorders.

GCKR

CCDC138 (Coiled-Coil Domain Containing 138): CCDC138 is a protein that is not yet well characterised but is potentially involved in cellular structure due to its coiled-coil domain. These domains often play a role in protein-protein interactions and cytoskeletal organisation. Further research is required to clarify its specific functions and its relevance to health and disease.

CCDC138

CAMK1D (Calcium/Calmodulin Dependent Protein Kinase ID): CAMK1D is a member of the calcium/calmodulin-dependent protein kinase family, involved in mediating cellular responses to calcium signals. It plays a role in regulating gene expression, the cell cycle, and metabolism. CAMK1D has been linked to diabetes and cardiovascular diseases, emphasising its importance in metabolic regulation and cellular signalling.

CAMK1D

UGT1A6 (UDP Glucuronosyltransferase Family 1 Member A6): is a gene that encodes an enzyme from the UDP glucuronosyltransferase family. This enzyme plays a crucial role in phase II metabolism by enabling the conjugation of drugs, toxins, and endogenous substances with glucuronic acid, aiding their elimination from the body. UGT1A6 is vital for detoxification and maintaining overall metabolic balance.

UGT1A6

SHQ1 (SHQ1, H/ACA Ribonucleoprotein Assembly Factor): SHQ1 is a gene that encodes a protein essential for the assembly of H/ACA ribonucleoproteins (RNPs). These RNPs are involved in processing and modifying RNA, including the maturation of rRNA, snRNA, and stabilising the telomerase RNA component (TERC). SHQ1 plays a key role in the biogenesis of H/ACA RNPs, which are critical for proper cell function and genomic stability. Disruptions in SHQ1 can affect RNA processing and contribute to cellular dysfunction.

SHQ1

SLC44A2 (Solute Carrier Family 44 Member 2): SLC44A2 is a gene involved in choline transport and plays a role in modulating immune responses and inflammation. It has been linked to the risk of venous thromboembolism and contributes to neutrophil migration and activation. Research into SLC44A2 helps clarify its impact on thrombotic disorders and immune regulation, highlighting potential targets for treating inflammatory and thrombotic diseases.

SLC44A2

GNG11 (G Protein Subunit Gamma 11): GNG11 (G Protein Subunit Gamma 11) is a gamma subunit of heterotrimeric G proteins, which are crucial components in intracellular signalling pathways activated by G protein-coupled receptors (GPCRs). GNG11 assists in modulating signal transduction across cell membranes, affecting various physiological processes such as sensory perception, immune response, and cell growth. Its role is vital for transmitting signals from outside the cell to the inside, enabling appropriate cellular responses.

GNG11

PAFAH1B2 (Platelet-Activating Factor Acetylhydrolase 1B, Subunit 2): PAFAH1B2 is a gene involved in the metabolism of platelet-activating factor, a lipid mediator in inflammation. It plays a role in modulating inflammatory responses and may influence cardiovascular health and immune system function.

PAFAH1B2

PRLR (Prolactin Receptor): PRLR is a receptor that binds to the hormone prolactin, which plays a role in milk production, reproductive functions, and immune regulation. When prolactin binds, PRLR activates signalling pathways that control cell growth, development, and differentiation. Dysregulation of PRLR signalling has been associated with breast and other cancers, highlighting its role in cellular proliferation and its potential as a therapeutic target.

PRLR

MOXD1 (Monooxygenase DBH-Like 1): MOXD1 is a gene involved in oxidative reactions within cells. While its precise functions and implications for human health are still being studied, MOXD1 is believed to play a role in the metabolism of certain compounds.

MOXD1

APOH (Apolipoprotein H): APOH is a multifunctional plasma protein, also known as beta-2-glycoprotein I, which plays a crucial role in lipid metabolism and haemostasis. It is a key factor in antiphospholipid antibody syndrome (APS), where it helps regulate the coagulation cascade and prevent thrombosis. APOH interacts with lipoproteins, phospholipids, and coagulation factors, contributing to immune modulation and the clearance of apoptotic cells. In addition to its role in blood clotting, APOH has anti-inflammatory effects and supports endothelial function and vascular health. Dysregulation of APOH is linked to various thrombotic and vascular disorders.

APOH

CARMIL1 (Capping Protein Regulator and Myosin 1 Linker 1): CARMIL1 is a gene that encodes a protein involved in regulating actin dynamics, a crucial component of the cellular cytoskeleton. It plays a significant role in cell movement, structure, and signalling. Alterations or disruptions in CARMIL1 can affect cell motility and have been linked to immune system disorders and certain cancers.

CARMIL1

TLR1 (Toll-Like Receptor 1): TLR1 is a gene that encodes a protein belonging to the toll-like receptor family, which plays a key role in the innate immune system. It recognises pathogen-associated molecular patterns and helps trigger immune responses. Variations in TLR1 may affect susceptibility to infectious diseases.

TLR1

FHOD3 (Formin Homology 2 Domain Containing 3): FHOD3 is a protein belonging to the formin family, which plays a key role in organising and regulating the actin cytoskeleton. It is especially important in cardiac muscle and other tissues, where it supports the assembly of actin filaments that affect cell shape, adhesion, and movement. FHOD3 is vital for processes like cell division, migration, and muscle contraction, contributing to cardiovascular and skeletal system function. Its regulatory role involves dynamic remodelling of the actin cytoskeleton, essential for heart development and performance.

FHOD3

ZNF704 (Zinc Finger Protein 704): ZNF704 is a member of the zinc finger protein family, characterised by their DNA-binding motifs and involvement in gene regulation. While its specific functions are not fully understood, ZNF704, like other zinc finger proteins, is likely involved in transcriptional regulation, impacting various cellular processes. It may play a role in development and disease mechanisms, especially in contexts where controlling gene expression is essential.

ZNF704

MTDH (Metadherin), also known as AEG-1, is a multifunctional protein involved in key cellular processes such as cell adhesion, migration, and cancer development. It plays a significant role in tumour growth, angiogenesis, and metastasis, acting as an oncogene. Due to its involvement in promoting chemoresistance and its link to poor clinical outcomes, MTDH is considered an important target for cancer therapy.

MTDH

NOX4 (NADPH oxidase 4) is an enzyme from the NADPH oxidase family that produces reactive oxygen species (ROS) within cells. Unlike other members of the family, NOX4 is continuously active under normal conditions. It is primarily located in the endoplasmic reticulum and plasma membrane, where it transfers electrons from NADPH to oxygen, generating superoxide radicals. The ROS produced by NOX4 function as signalling molecules involved in cell growth, differentiation, and programmed cell death, among other physiological processes.

NOX4

CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit) is a gene that encodes a subunit of the nicotinic acetylcholine receptor, which plays a key role in neurotransmission within the nervous system. This receptor is important for modulating neuronal excitability and synaptic communication. Mutations in CHRNA4 have been associated with certain forms of epilepsy and other neurological disorders, highlighting its critical function in brain activity.

CHRNA4

GLYCTK (Glycerate Kinase): GLYCTK is an enzyme that plays a key role in the metabolism of glycerate, a compound involved in the glycolysis and gluconeogenesis pathways. The proper functioning of GLYCTK is important for energy metabolism, and dysfunctions in this enzyme have been linked to D-glyceric aciduria, a rare metabolic disorder.

GLYCTK

HLCS (Holocarboxylase Synthetase): HLCS is an enzyme essential for the proper functioning of carboxylase enzymes, which play key roles in protein, carbohydrate, and lipid metabolism. Mutations in HLCS can cause holocarboxylase synthetase deficiency, a rare metabolic disorder characterised by multiple carboxylase deficiencies, leading to issues with skin, hair, immune function, and developmental delays.

HLCS

AP3B2 (Adaptor-Related Protein Complex 3 Subunit Beta 2): AP3B2 is a subunit of the Adaptor-Related Protein Complex 3 (AP-3), which is involved in intracellular vesicle trafficking. It plays a key role in sorting cargo proteins to lysosomes and related organelles. Mutations in AP3B2 are associated with Hermansky-Pudlak syndrome, a disorder characterised by defects in pigmentation and platelet function.

AP3B2

HASPIN (Histone H3 Associated Protein Kinase): HASPIN is a kinase that phosphorylates histone H3, playing a crucial role in regulating chromosome condensation and segregation during mitosis. It is essential for maintaining genomic stability and ensuring proper cell division. Dysregulation of HASPIN activity can lead to chromosomal abnormalities and is being investigated for its potential involvement in cancer development and as a target for cancer therapies.

HASPIN

OTOP1 (Otopetrin 1): OTOP1 is a gene involved in the function of the vestibular system and essential for maintaining body balance and spatial orientation. It plays a key role in the formation of otoconia, tiny calcium carbonate crystals in the inner ear that are critical for sensing gravity and linear acceleration.

OTOP1

HLA-C (Human Leukocyte Antigen C): HLA-C is a gene that encodes a protein belonging to the MHC class I family, which plays a vital role in the immune system by presenting peptide antigens to CD8+ T cells. It also helps regulate natural killer (NK) cell activity through interactions with KIR receptors. The expression and diversity of HLA-C influence immune response effectiveness, impacting susceptibility to infections, autoimmune diseases, and transplantation outcomes.

HLA-C

FARP2 (FERM, ARH/RhoGEF, and Pleckstrin Domain Protein 2): FARP2 is a signalling protein that plays a key role in neuronal development and synaptic plasticity. It regulates dendritic spine formation and actin cytoskeleton remodelling by acting as a guanine nucleotide exchange factor for small GTPases. Through these pathways, FARP2 influences neuronal connectivity and function. Changes in FARP2 expression or activity are linked to neurological disorders, underscoring its importance in brain development and synaptic regulation.

FARP2

RESF1 (Respiratory Factor 1): RESF1 is a gene involved in mitochondrial function and respiratory chain activity. It plays a vital role in energy production within cells and supports the maintenance of mitochondrial integrity and function.

RESF1

LAMA5 (Laminin Subunit Alpha 5): LAMA5 is a gene that encodes a protein belonging to the laminin family, which is essential for the structure and function of basement membranes in various tissues. Laminins contribute to cell adhesion, differentiation, migration, and signalling. LAMA5 plays an important role in vascular and neural development and has been linked to pathological conditions such as cancer metastasis and fibrosis, where basement membrane integrity is compromised.

LAMA5

SLC45A2 (Solute Carrier Family 45 Member 2): SLC45A2 is a protein involved in melanin production, functioning as a transporter of tyrosine, a crucial precursor in the melanin biosynthesis pathway. Variants of SLC45A2 contribute to human pigmentation differences, affecting skin, hair, and eye colour. Mutations in this gene can cause oculocutaneous albinism type 4, characterised by reduced pigmentation and visual impairments. The role of SLC45A2 in pigmentation influences not only physical appearance but also protection against UV radiation and the regulation of vitamin D synthesis.

SLC45A2

CENPW (Centromere Protein W): CENPW is a gene involved in chromosome segregation during cell division, playing a key role in the formation and function of the centromere. It is essential for accurate cell division, and dysfunction can contribute to chromosomal instability, a common feature in many cancers.

CENPW

ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4): ERBB4 is a member of the epidermal growth factor receptor (EGFR) family that functions as a key regulator in multiple cellular processes. This transmembrane receptor tyrosine kinase plays a vital role in signalling pathways that control cell proliferation, differentiation, and survival. Beyond these cellular functions, ERBB4 also influences organ development, synaptic plasticity, and cardiac function. Activation of ERBB4 initiates downstream signalling cascades that affect gene expression and cellular behaviour, contributing to tissue homeostasis and development. Dysregulation of ERBB4 has been linked to various diseases, including cancer, neurological disorders, and heart abnormalities.

ERBB4

IREB2 (Iron Responsive Element Binding Protein 2): IREB2 is a gene that plays a key role in iron metabolism by regulating genes involved in iron storage and transport. It helps maintain iron balance in the body by binding to iron-responsive elements (IREs) in the mRNA of these genes, controlling their stability and translation. Proper function of IREB2 is essential to prevent iron-related health issues such as anaemia or iron overload disorders including haemochromatosis. Studying IREB2 is important for understanding iron metabolism and its links to conditions such as neurodegenerative diseases.

IREB2

HIVEP2 (Human Immunodeficiency Virus Type I Enhancer Binding Protein 2): HIVEP2 is a gene involved in transcriptional regulation. It encodes a protein that binds to DNA and modulates gene expression. HIVEP2 may play a key role in regulating specific genes, with potential effects on development and immune system function.

HIVEP2

NOTCH1 (Notch Receptor 1): NOTCH1 is a key component of the Notch signalling pathway, which plays an important role in cell fate determination, stem cell maintenance, and differentiation during both embryonic and adult tissue development. Dysregulation of NOTCH1 signalling is linked to various disorders, including several cancers such as T-cell acute lymphoblastic leukaemia, as well as developmental abnormalities. Its broad influence on cell proliferation and differentiation makes NOTCH1 a significant focus in developmental biology and oncology research.

NOTCH1

CANT1 (Calcium Activated Nucleotidase 1): CANT1 is a gene that encodes an enzyme involved in the hydrolysis of UDP, a nucleotide essential for glycosaminoglycan synthesis. Mutations in CANT1 are associated with skeletal disorders such as Desbuquois dysplasia, highlighting its role in bone development and cartilage formation.

CANT1

PKNOX1 (PBX/Knotted 1 Homeobox 1): PKNOX1 is a transcription factor involved in regulating gene expression during development and cellular differentiation. It plays a role in embryogenesis and may influence the development of haematopoietic cells. Dysregulation of PKNOX1 can contribute to developmental abnormalities.

SLC26A5

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