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The 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.

<p>The 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.</p>

DNA Immunity & Inflammation Test

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....

BCL2L1

BCO1 (Beta-Carotene Oxygenase 1): BCO1 is responsible for the conversion of beta-carotene to retinal, a form of vitamin A, which is essential for vision, immune function, and cellular communication. This gene's activity influences how efficiently dietary beta-carotene is converted into vitamin A, impacting vitamin A status and related health outcomes. Variations in BCO1 can affect an individual's response to dietary beta-carotene and risk of vitamin A deficiency....

BCO1

BDNF (Brain-Derived Neurotrophic Factor): BDNF is a gene that encodes a protein called brain-derived neurotrophic factor, which is crucial for the survival and growth of neurons in the brain. BDNF plays a key role in synaptic plasticity, learning, and memory. Dysregulation of BDNF has been linked to various neurological and psychiatric disorders....


BDNF

BHMT2 (Betaine-Homocysteine S-Methyltransferase 2) functions similarly to its counterpart, BHMT, in homocysteine metabolism, crucial for cardiovascular and neurological well-being. It assists in converting homocysteine to methionine, albeit less extensively studied than BHMT. This gene's activity impacts homocysteine levels in the body, with potential implications for heart health and neurological conditions. Understanding BHMT2's role could further clarify its contribution to metabolic pathways and disease risk....


BHMT2

APOC4 (Apolipoprotein C-IV): APOC4 is a member of the apolipoprotein family, playing a role in lipid metabolism and transport. This protein is involved in the regulation of triglyceride-rich lipoprotein particles and may influence the interaction between lipoproteins and their receptors or lipid transfer proteins. APOC4 is present in various lipoprotein fractions in plasma, including very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL). Its function in lipid metabolism suggests a potential involvement in the development of cardiovascular diseases and lipid disorders. Dysregulation or genetic variations of APOC4 can impact lipid levels and distribution, contributing to atherosclerosis, coronary artery disease, and other...

APOC4

ACTN3: ACTN3, or Alpha-actinin-3, is a gene that encodes a protein primarily found in fast-twitch muscle fibers. These fibers are crucial for rapid and powerful muscle contractions, commonly associated with explosive athletic performance. Variations in this gene, particularly the R577X polymorphism, have been linked to differing capabilities in sprint and endurance activities, making it a gene of interest in sports genetics....

ACTN3

EPB41L4A (Erythrocyte Membrane Protein Band 4.1 Like 4A): EPB41L4A encodes a protein involved in cytoskeletal organization and membrane stability. It plays a role in maintaining the structural integrity of cells, including red blood cells. Mutations in this gene can lead to disorders affecting red blood cell morphology....

EPB41L4A

EPDR1 (Epidermal growth factor receptor pathway substrate 15-related protein 1): Similar to MMP15's role in extracellular matrix (ECM) dynamics, EPDR1 is implicated in cellular signaling pathways that regulate various physiological processes, including cell proliferation, survival, and differentiation. As a member of the epidermal growth factor receptor (EGFR) pathway substrate family, EPDR1 interacts with key signaling molecules involved in growth factor signaling cascades, modulating downstream signaling events. This protein plays a critical role in mediating cellular responses to extracellular stimuli, such as growth factors and cytokines, thereby influencing cell fate decisions and tissue homeostasis. Dysregulation of EPDR1 expression or activity has...

EPDR1

EPAS1 (Endothelial PAS Domain Protein 1): Also known as HIF-2alpha, EPAS1 is a transcription factor that responds to low oxygen levels in tissues. It plays a significant role in the physiological adaptation to hypoxia, regulating genes involved in erythropoiesis, iron metabolism, and vascularization. EPAS1 is implicated in high-altitude adaptation and various diseases, including certain cancers....

EPAS1

ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1): ENOX1 is involved in the transfer of electrons across the cell membrane and may play a role in cellular redox homeostasis. Its function is associated with cell growth regulation and the aging process, although its specific role in human physiology and pathology is not fully understood....

ENOX1

DAB1 (Disabled Homolog 1): DAB1 is crucial for brain development, particularly in the regulation of neuronal positioning and migration. It's a key player in the Reelin signaling pathway, which is important for the organization of brain structure during development. Mutations in DAB1 can result in neurological disorders due to its critical role in establishing proper neural networks....

DAB1

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....

ANAPC4

ATG12 (Autophagy Related 12): ATG12 is a key gene involved in the process of autophagy, a cellular mechanism for degrading and recycling cellular components. This gene plays a crucial role in cellular maintenance and survival, particularly under stress conditions. It's involved in the formation of a conjugate with ATG5, which is essential for the autophagosome formation, a pivotal step in the autophagy pathway. Dysregulation of ATG12 has been linked to various diseases, including cancer and neurodegenerative disorders....

ATG12

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....


SHISA4

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....

ASCC3

ASIP (Agouti Signaling Protein): ASIP regulates melanin synthesis in the skin, influencing pigmentation and the distribution of hair color. By antagonizing melanocortin receptors, ASIP plays a critical role in determining the type of melanin produced in the hair and skin. Variations in ASIP expression are linked to differences in pigmentation patterns, susceptibility to skin cancer, and the regulation of metabolic processes, underlining its role in pigmentation and potential implications for metabolic health....




ASIP

SORCS3 (Sortilin-Related VPS10 Domain Containing Receptor 3): SORCS3 is a member of the VPS10 domain-containing receptor family and plays a role in protein trafficking and sorting within cells. It is particularly important in the nervous system, where it regulates the trafficking of proteins involved in synaptic function. Dysregulation of SORCS3 has been linked to neurological disorders, including Alzheimer's disease and schizophrenia....


SORCS3

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....


SIPA1L3

SPATA32 (Spermatogenesis Associated 32): SPATA32 is primarily expressed in the testis and is believed to play a role in spermatogenesis. Its exact function in male reproductive health and fertility is not fully understood, but it is considered significant in the study of reproductive biology and potentially in fertility-related research and treatments....


SPATA32

SLC16A9 (Solute Carrier Family 16 Member 9): SLC16A9 is a member of the solute carrier family and is involved in transporting small molecules across cell membranes. Its specific substrate and functions are still being elucidated....


SLC16A9

SLC1A1

ASB3 (Ankyrin Repeat and SOCS Box Protein 3): ASB3 is a protein that contains ankyrin repeats and a SOCS (Suppressor of Cytokine Signaling) box domain. It is involved in protein ubiquitination and degradation pathways. ASB3 plays a role in regulating the turnover of specific cellular proteins....


ASB3

SLC22A23 (Solute Carrier Family 22 Member 23): SLC22A23 belongs to a family of transporters that facilitate the movement of organic ions and small molecules across cell membranes. While the specific substrates and physiological roles of SLC22A23 are not well-established, it is thought to play a role in the transport of organic compounds in various tissues, potentially impacting drug disposition and metabolic processes....


SLC22A23

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....


SLC24A4

ALCAM (Activated Leukocyte Cell Adhesion Molecule): ALCAM is a cell adhesion molecule involved in various biological processes including neuronal development, immune responses, and tumor progression. It facilitates cell-cell interactions and is important for the migration and targeting of cells. Dysregulation of ALCAM has been implicated in cancer metastasis and autoimmune diseases....

ALCAM

SLC35F1 (Solute Carrier Family 35 Member F1): SLC35F1 is a member of the solute carrier family, specifically involved in the transport of nucleotide sugars across cellular membranes. This protein plays a crucial role in the intracellular trafficking and availability of nucleotide sugars, which are essential substrates for glycosylation processes. Glycosylation is a critical post-translational modification that affects protein folding, stability, and interactions, thereby influencing various physiological and pathological processes, including cell signaling, immune response, and cancer progression. The precise function of SLC35F1 in glycosylation underscores its importance in maintaining cellular homeostasis and the proper function of glycoproteins. Dysregulation or mutations...



SLC35F1

STAT6 (Signal Transducer And Activator Of Transcription 6): STAT6 is critical for signaling pathways triggered by cytokines, particularly those involved in the immune response, such as IL-4 and IL-13, which are key mediators in the development of allergic inflammation. STAT6 activation leads to transcription of genes that promote Th2 cell differentiation, IgE production, and mast cell growth. Its role in allergic responses and asthma makes STAT6 a target for therapeutic interventions aiming to modulate immune reactions in allergic diseases....

STAT6

APOC1 (Apolipoprotein C-I): APOC1 is a component of the apolipoprotein family, playing a crucial role in lipid metabolism and transport. It is associated with very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL), contributing to the regulation of triglyceride-rich lipoprotein metabolism. APOC1 acts as an inhibitor of lipoprotein lipase and hepatic lipase, enzymes essential for the hydrolysis of triglycerides, thereby influencing lipid levels in the plasma. Its involvement in lipid metabolism suggests a significant role in cardiovascular health, where dysregulation can lead to conditions such as hyperlipidemia, atherosclerosis, and consequently, cardiovascular disease. Beyond its metabolic functions, APOC1 has been implicated in...


APOC1

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....

GADL1

SLC39A8 (Solute Carrier Family 39 Member 8): SLC39A8 is a transporter protein involved in the cellular uptake of divalent cations, particularly zinc and manganese. It plays a crucial role in metal ion homeostasis and is important for various biological processes, including immune function and neural development. Mutations in SLC39A8 have been associated with multiple health issues, including congenital disorders of glycosylation....

SLC39A8

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....

SLC44A1

ESR1, also known as Estrogen Receptor Alpha, is a protein that belongs to the nuclear hormone receptor family and acts as a transcription factor. It plays a pivotal role in mediating the effects of estrogen, a steroid hormone, in various tissues throughout the body. One of the primary functions of ESR1 is its role in regulating gene expression in response to estrogen binding. In the absence of estrogen, ESR1 resides in the cytoplasm in an inactive state, bound to heat shock proteins. Upon binding of estrogen, ESR1 undergoes a conformational change, dissociates from the heat shock proteins, and translocates to the...

ESR1

FOLH1 (Folate Hydrolase 1), also known as Prostate-Specific Membrane Antigen (PSMA), is pivotal in folate metabolism, facilitating the conversion of folate to its bioactive forms. This enzyme's action is crucial for DNA synthesis and repair, impacting cell division and growth. FOLH1's expression, particularly in prostate cancer cells, makes it a target for cancer diagnostics and therapeutics. Understanding its function offers potential pathways for treating cancer and addressing folate-related metabolic disorders....

FOLH1

BEND5 (BEN Domain Containing 5): BEND5 is a gene that is relatively less understood but is thought to be involved in chromatin organization and gene regulation. The BEN domain suggests a role in DNA binding and transcriptional regulation. Research is ongoing to elucidate its specific functions and its implications in cellular processes and diseases....



BEND5

EPS8L3 (Epidermal Growth Factor Receptor Pathway Substrate 8-Like 3): EPS8L3 is a gene associated with the epidermal growth factor receptor (EGFR) pathway, a fundamental signaling cascade in cellular physiology. Its involvement in cell signaling pathways implies roles in cellular responses to external stimuli and possibly cancer development. A deeper understanding of EPS8L3's functions could provide valuable insights into disease mechanisms and therapeutic strategies....

EPS8L3

SLC44A5 (Solute Carrier Family 44 Member 5): SLC44A5 is a member of the solute carrier family, proteins that facilitate the transport of various substances across cellular membranes. While the specific substrates and physiological roles of SLC44A5 are not fully elucidated, it may be involved in cellular transport processes critical for maintaining homeostasis and cellular function....


SLC44A5

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....

ENPEP

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....

SPINT2

GALNT13 (Polypeptide N-Acetylgalactosaminyltransferase 13): GALNT13 is a member of the GalNAc-transferase family, which catalyzes the initial step of O-linked glycosylation by transferring N-acetylgalactosamine (GalNAc) to serine and threonine residues of target proteins. GALNT13 specifically modifies protein substrates in the Golgi apparatus, influencing various cellular processes such as protein trafficking, secretion, and cell surface interactions. This enzyme is implicated in the post-translational modification of proteins involved in cell signaling, adhesion, and immune responses, thereby playing a critical role in cellular communication and homeostasis. Dysregulation of GALNT13 has been associated with several diseases, including cancer and metabolic disorders, underscoring its importance in...

GALNT13

SRBD1 (S1 RNA Binding Domain 1): SRBD1 is a gene encoding an RNA-binding protein. RNA-binding proteins play essential roles in post-transcriptional regulation, including mRNA splicing and stability. Further research is needed to fully understand the specific functions of SRBD1....

SRBD1

ERBIN (Erb-B2 Receptor Tyrosine Kinase 2 Interacting Protein): ERBIN is a protein that interacts with the ErbB2 receptor tyrosine kinase, which is involved in cell growth and differentiation. ERBIN may play a role in modulating the signaling pathways associated with ErbB2 and other cell signaling processes. It has been studied in relation to breast cancer and other cancers where ErbB2 signaling is implicated....

ERBIN

SLC35F3 (Solute Carrier Family 35 Member F3): SLC35F3 is a member of the solute carrier (SLC) family of transporters and is involved in the transport of various molecules across cell membranes. Its specific substrate and cellular functions are areas of ongoing research....


SLC35F3

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....

APOBEC1

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....

ARHGAP9

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....


SPINK5

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....

AP2A2

FOXP2 (Forkhead Box P2): FOXP2 is a transcription factor that plays a critical role in the development of speech and language in humans. Mutations in the FOXP2 gene can lead to language deficits and speech disorders. It is considered one of the key genes involved in the evolution of human language....

FOXP2

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....

EPM2A

SLC4A4 (Solute Carrier Family 4, Member 4): SLC4A4, part of the solute carrier family, is predominantly involved in the regulation of bicarbonate transport and acid-base balance within the body. It functions as an electrogenic sodium bicarbonate cotransporter, primarily expressed in the kidneys and pancreas, playing a critical role in renal bicarbonate reabsorption and pH regulation. Through its action, SLC4A4 facilitates the fine-tuning of bicarbonate secretion and reabsorption processes, essential for maintaining the body's overall acid-base homeostasis. Mutations in the SLC4A4 gene are associated with various renal tubular acidosis disorders, characterized by an inability to properly acidify the urine, leading to...

SLC4A4

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....

CXCR2

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....

ERMP1

FN3KRP (Fructosamine 3 Kinase-Related Protein): FN3KRP is associated with fructosamine metabolism and may have a role in the regulation of glucose levels. It is related to the enzyme fructosamine 3 kinase and may have implications in glycation processes, which are involved in the formation of advanced glycation end-products (AGEs) and their impact on diabetes and aging-related diseases....

FN3KRP

ESD (Esterase D): ESD is an enzyme involved in the hydrolysis of esters and is considered a marker for certain types of cancer, including retinoblastoma. Its role in cellular metabolism and detoxification processes makes it relevant in the study of metabolic pathways and in the diagnosis and monitoring of cancer....

FPR1 (Formyl Peptide Receptor 1): FPR1 is a receptor involved in immune responses, particularly in chemotaxis of neutrophils to sites of infection or inflammation. It recognizes formyl peptides, which are signals often associated with microbial invaders....

FPR1

EPHB2 (Ephrin Type-B Receptor 2): EPHB2, a member of the Eph receptor tyrosine kinase family, plays a pivotal role in mediating cell-cell communication and tissue organization. Through its interactions with ephrin ligands, EPHB2 regulates diverse processes such as cell migration, adhesion, and axon guidance during development and adulthood. This receptor is integral to the maintenance of tissue architecture and function, particularly in the nervous system and epithelial tissues. Dysregulation of EPHB2 signaling has been implicated in various pathological conditions including cancer progression, neurodevelopmental disorders, and tissue malformation. The intricate balance of EPHB2 activity underscores its significance in orchestrating cellular dynamics...

EPHB2

SIRT1 (Sirtuin 1): SIRT1 is a member of the sirtuin family of proteins, known for their roles in regulating cellular processes through deacetylation of proteins. SIRT1, in particular, has garnered attention for its involvement in longevity and aging. It plays a central role in gene regulation, DNA repair, and cellular stress responses, making it a pivotal player in the quest to understand aging and age-related diseases....

SIRT1

SLC5A6 (Solute Carrier Family 5 Member 6): SLC5A6, also known as the sodium dependent vitamin transporter, is crucial for the absorption of biotin, a B-vitamin, and possibly other water-soluble vitamins. This gene is important for maintaining vitamin levels in the body, with a deficiency potentially leading to a range of health issues, including skin disorders, hair loss, and neurological symptoms....

SLC5A6

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....

ERI1

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....

APBB1IP

ERG (ETS Transcription Factor ERG): ERG is a member of the ETS transcription factor family and plays a key role in blood vessel development, hematopoiesis, and bone development. Aberrations in ERG have been implicated in the development of certain cancers, particularly prostate cancer and Ewing sarcoma....

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....

ANO3

GALNT3 (Polypeptide N-Acetylgalactosaminyltransferase 3): GALNT3 is involved in the process of O-linked glycosylation, where it adds N-acetylgalactosamine to proteins. This modification is important for protein function and cell signaling. Mutations in GALNT3 can lead to disorders such as familial tumoral calcinosis, characterized by abnormal calcium phosphate deposits in the body....

GALNT3

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....


SIGLEC

FRMD4B (FERM Domain Containing 4B): FRMD4B is a member of the FERM domain-containing proteins, known for their role in mediating linkages between the cell membrane and the cytoskeleton. This protein plays a key role in cellular processes such as signal transduction, cell morphology, and migration by interacting with various transmembrane proteins and influencing their localization and function. FRMD4B's involvement is crucial in the development and maintenance of neuronal networks, as well as in the regulation of cell polarity and membrane organization. Its function is significant for proper neural development and may be implicated in neurological disorders. The dysregulation of FRMD4B...

FRMD4B

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....

SLC7A11

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....

GATA2

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....

SOX4

SORCS1 (Sortilin-Related VPS10 Domain Containing Receptor 1): SORCS1 is a gene that encodes a receptor involved in protein trafficking and sorting. It plays a role in the regulation of receptor signaling and may have implications in neural development and synaptic function. ..

SORCS1

GCKR (Glucokinase Regulator): GCKR is a gene encoding a protein that regulates glucokinase, an enzyme involved in glucose metabolism. Variations in GCKR can influence glucose homeostasis and have been associated with diabetes and other metabolic conditions....

GCKR

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....

APOA1

APOH (Apolipoprotein H): APOH, also known as beta-2-glycoprotein I, is a multifunctional plasma protein crucial for maintaining lipid metabolism and hemostasis. It serves as a key component of the antiphospholipid antibody syndrome (APS), playing a regulatory role in the coagulation cascade and preventing thrombosis. APOH also interacts with various molecules including lipoproteins, phospholipids, and coagulation factors, contributing to the modulation of immune responses and the clearance of apoptotic cells. Beyond its role in hemostasis, APOH exhibits anti-inflammatory properties, participating in the regulation of endothelial function and vascular health. Dysregulation of APOH has been implicated in various disorders, including thrombotic diseases,...

APOH

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

AP3B2

ERBB4 (Erb-B2 Receptor Tyrosine Kinase 4): ERBB4, a member of the epidermal growth factor receptor (EGFR) family, serves as a crucial regulator in various cellular processes. This transmembrane receptor tyrosine kinase is intricately involved in signaling pathways governing cell proliferation, differentiation, and survival. Its role extends beyond cellular processes to influence organ development, synaptic plasticity, and cardiac function, among others. ERBB4's activation triggers downstream cascades that modulate gene expression and cellular behavior, contributing significantly to tissue homeostasis and development. Moreover, its dysregulation has been implicated in diverse pathologies, including cancer progression, neurological disorders, and cardiac abnormalities. The multifaceted functions of ERBB4...

ERBB4

EGFLAM (EGF-Like, Fibronectin Type III and Laminin G Domain Containing): EGFLAM is a gene that encodes a protein containing domains found in extracellular matrix proteins. While its exact functions are still being elucidated, the presence of EGF-like, fibronectin type III, and laminin G domains suggests potential roles in cell adhesion, signaling, and tissue development. Further research is needed to fully understand its specific functions and significance....

EGFLAM

EFNA5 (Ephrin A5): EFNA5 belongs to the ephrin family and acts as a ligand for Eph receptors, which are involved in various developmental processes, including axon guidance, angiogenesis, and tissue patterning. Dysregulation of EFNA5 signaling can contribute to aberrant development and has been studied in the context of cancer progression....

EFNA5

AOC1 (Amine Oxidase, Copper Containing 1): AOC1, also known as diamine oxidase, is involved in the metabolism of histamine and polyamines. It plays a role in the regulation of histamine levels and is important in allergic responses, gastrointestinal function, and immune regulation....


AOC1

FUT5 (Fucosyltransferase 5): FUT5 is another enzyme involved in fucose metabolism, adding fucose to glycans, which are essential for cell-cell interaction and communication. Alterations in FUT5 activity can influence immune responses and have been studied in relation to cancer....

FUT5

AKT3, also known as Protein Kinase B (PKB) gamma, is a serine/threonine protein kinase that plays a crucial role in various cellular processes, including cell survival, proliferation, metabolism, and growth. It is a member of the AKT family of kinases, which also includes AKT1 and AKT2. One of the primary functions of AKT3 is its role in the regulation of cell survival and apoptosis. AKT3 is activated in response to growth factors, cytokines, and other extracellular signals that stimulate cell growth and survival. Upon activation, AKT3 phosphorylates downstream targets involved in apoptotic regulation, such as BAD and caspase-9, leading to their...

AKT3

AGPAT5 (1-Acylglycerol-3-Phosphate O-Acyltransferase 5): AGPAT5 is involved in the biosynthesis of phospholipids, a key component of cell membranes. It plays a role in the conversion of lysophosphatidic acid to phosphatidic acid, crucial for the production of various types of phospholipids. Dysregulation of AGPAT5 can affect lipid metabolism and is linked to disorders like obesity and lipodystrophy....

AGPAT5

GCSAML (Germinal Center-Associated Signaling And Motility-Like): GCSAML is a less characterized gene but is believed to be involved in immune cell signaling and motility, particularly in germinal center B cells. Its role may be significant in the development of immune responses and the regulation of B cell activity....

GCSAML

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....

FRA10AC1

ECHDC3, also known as Enoyl-CoA Hydratase Domain-Containing Protein 3, is an enzyme involved in fatty acid metabolism. Specifically, ECHDC3 contains a domain characteristic of enoyl-CoA hydratases, which catalyze the hydration of enoyl-CoA intermediates in the β-oxidation pathway of fatty acid degradation. One of the primary functions of ECHDC3 is its role in fatty acid β-oxidation, a metabolic process that occurs in the mitochondria and peroxisomes and is essential for energy production. During β-oxidation, fatty acids are broken down into acetyl-CoA molecules, which can enter the citric acid cycle to generate ATP, the primary energy currency of the cell. ECHDC3 participates in...

ECHDC3

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...


SOCS2

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....

DUSP15

SOD3 (Superoxide Dismutase 3): SOD3 emerges as a defender against oxidative stress, with a specific role in dismutating superoxide radicals. This enzyme operates as a guardian of tissues and cells, protecting them from the damaging effects of reactive oxygen species. SOD3's contributions extend to cardiovascular health and tissue protection, positioning it as a key player in our body's defense mechanisms....

SOD3

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....

ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2): ALDH1A2 is a member of the aldehyde dehydrogenase (ALDH) enzyme family, which plays a crucial role in the metabolism of both endogenous and exogenous aldehydes. Specifically, ALDH1A2 is responsible for the oxidation of retinaldehyde to retinoic acid, a biologically active form of vitamin A. This enzymatic conversion is essential for various developmental processes, including embryogenesis, tissue patterning, and organogenesis, by regulating gene expression and cellular differentiation through retinoic acid signaling pathways. ALDH1A2 expression is particularly prominent in tissues undergoing active morphogenesis, such as the developing limb buds, central nervous system, and sensory organs....

ALDH1A2

EIF3M (Eukaryotic Translation Initiation Factor 3 Subunit M): EIF3M is a component of the eukaryotic translation initiation factor 3 (eIF3) complex, which is essential for protein synthesis. It plays a role in the initiation phase of translation and is important for overall protein production in cells. Alterations in EIF3M can impact cellular growth and proliferation....

EIF3M

DCDC2 (Doublecortin Domain Containing 2): DCDC2 is associated with neuronal migration and differentiation, particularly in the developing brain. It has been implicated in dyslexia and other learning disabilities, suggesting its role in cognitive processing and language development....

DCDC2

ALDH2 (Aldehyde Dehydrogenase 2 Family Member): ALDH2 is crucial in alcohol metabolism, converting acetaldehyde to acetic acid. Variants, particularly common in East Asian populations, can lead to alcohol intolerance and are associated with an increased risk of certain cancers and cardiovascular diseases....

ALDH2

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....

EHD3

RELN (Reelin): RELN encodes a large secreted extracellular matrix protein named reelin, which is crucial for neuronal migration and positioning during brain development. It affects the layering of neurons in the cerebral cortex and cerebellum. Mutations or alterations in RELN expression have been implicated in several neuropsychiatric disorders, including autism, schizophrenia, and bipolar disorder. Reelin also plays a role in synaptic plasticity in the adult brain, impacting learning and memory....

RELN

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....

SRPK2

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....

GFI1

ALPK1 (Alpha Kinase 1): ALPK1 is a kinase involved in the regulation of various cellular processes, including inflammation and immune responses. It has been linked to the pathogenesis of chronic inflammatory diseases and is a potential target for therapeutic intervention in such conditions....

ALPK1

SORBS3 (Sorbin And SH3 Domain Containing 3): SORBS3, also known as vinexin, is involved in cytoskeletal organization and cell signaling. It plays a role in linking the cytoskeleton to the cell membrane and is involved in signal transduction pathways related to cell movement and adhesion. Alterations in SORBS3 function can affect cellular architecture and have implications in cancer progression and metastasis....


SORBS3

RMI2 (RecQ Mediated Genome Instability 2): RMI2 is part of a protein complex involved in maintaining genomic stability, particularly in the repair of DNA double-strand breaks and in the resolution of DNA recombination structures. Its function is crucial in preventing genomic instability, a key factor in cancer development and progression....

RMI2

FOXP1

AMY1A (Amylase, Alpha 1A): AMY1A encodes alpha-amylase, an enzyme important for the digestion of dietary starches. Variation in the copy number of AMY1A is linked to dietary adaptation and may influence digestive efficiency and metabolic health....


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