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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

HLA-DPB1 (Major Histocompatibility Complex, Class II, DP Beta 1): HLA-DPB1 is part of the HLA complex, crucial for the immune system's ability to recognize and respond to foreign substances. It's involved in antigen presentation and is important in autoimmune diseases and transplant compatibility....

HLA-DPB1

HCN4 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4): HCN4 is a key component of the cardiac pacemaker channels responsible for regulating heart rhythm. It contributes to the generation and modulation of the pacemaker current in the heart, influencing heart rate and cardiac output. Mutations in HCN4 are associated with a variety of cardiac arrhythmias, including bradycardia and heart block, making it a critical gene for understanding cardiac function and its disorders....

HCN4

SMOC1 (SPARC Related Modular Calcium Binding 1): SMOC1 is part of the SPARC family of matricellular proteins, involved in tissue remodeling and angiogenesis. It plays a role in cell-matrix interactions and has been implicated in ocular and limb development. Mutations in SMOC1 are associated with Waardenburg anophthalmia syndrome and other developmental disorders....



SMOC1

HBZ (Hemoglobin Subunit Zeta): HBZ is a component of embryonic and fetal hemoglobin. It plays a role in oxygen transport during the early stages of development. Alterations in the expression of HBZ are associated with certain hemoglobinopathies and thalassemias....

H4C13 (Histone Cluster 4, H4C13): H4C13 encodes a component of histone H4, essential for the structure of chromatin in eukaryotic cells. Histones play a key role in the regulation of gene expression and DNA repair and are fundamental to the integrity of genomic DNA....

H4C13

SH3PXD2A (SH3 And PX Domains 2A, also known as TKS5): SH3PXD2A is a scaffold protein involved in the formation of podosomes or invadopodia in cells, structures associated with tissue remodeling, cell migration, and invasion. It plays a significant role in cancer metastasis and angiogenesis by facilitating the degradation of the extracellular matrix. SH3PXD2A's function in cellular dynamics and interaction with the environment makes it a potential target for cancer therapy, particularly in limiting cancer spread....



SH3PXD2A

BHLHE40 (Basic Helix-Loop-Helix Family Member E40): BHLHE40 is a gene that encodes a transcription factor involved in circadian rhythm regulation. It plays a role in the control of the sleep-wake cycle and the expression of circadian clock genes. Dysregulation of BHLHE40 can impact circadian rhythms and sleep patterns....



BHLHE40

CAMK1D (Calcium/Calmodulin Dependent Protein Kinase ID): CAMK1D is part of the calcium/calmodulin-dependent protein kinase family, involved in mediating cellular responses to calcium fluctuations. It plays a role in various cellular processes, including regulation of gene expression, cell cycle, and metabolism. CAMK1D has been implicated in diabetes and cardiovascular diseases, underlining its importance in metabolic regulation and cellular signaling....



CAMK1D

FKBP4, also known as FK506-binding protein 4 or FKBP52, is a member of the FK506-binding protein (FKBP) family, which are peptidyl-prolyl cis-trans isomerases (PPIases) that function as molecular chaperones. FKBP4 is primarily found in the cytoplasm and nucleus of cells and is involved in regulating protein folding, trafficking, and signal transduction. One of the primary functions of FKBP4 is its role as a co-chaperone for steroid hormone receptors, including the glucocorticoid receptor (GR) and androgen receptor (AR). FKBP4 interacts with these receptors in the cytoplasm, facilitating their proper folding and assembly into functional complexes with heat shock proteins (HSPs). Upon ligand...

FKBP4

CALM1 (Calmodulin 1): CALM1 encodes calmodulin, a calcium-binding protein that plays a central role in calcium signaling. Calmodulin interacts with various target proteins, regulating their activity in response to changes in intracellular calcium levels. CALM1 is pivotal in numerous cellular processes, including muscle contraction, neurotransmitter release, and cell growth....



CALM1

SIDT2 (SID1 Transmembrane Family Member 2): SIDT2 is involved in the cellular uptake of RNA molecules, playing a role in RNA interference (RNAi) mechanisms. It's important in the study of gene regulation and has potential implications in the development of RNA-based therapeutics. The function of SIDT2 in RNA transport is crucial for understanding how cells regulate gene expression and respond to external RNA molecules....



SIDT2

CADM2 (Cell Adhesion Molecule 2): CADM2 plays a role in the central nervous system, particularly in synaptic organization and function. It's involved in cognitive processes like learning and memory. Variants in CADM2 have been associated with neuropsychiatric disorders and addictive behaviors....



CADM2

SOX2, short for SRY (Sex Determining Region Y)-Box 2, is a critical transcription factor that plays a pivotal role in embryonic development, stem cell pluripotency, and tissue homeostasis. Positioned predominantly within the nucleus of cells, SOX2 is involved in the regulation of gene expression by binding to specific DNA sequences and modulating the activity of target genes. One of the primary functions of SOX2 is its involvement in the maintenance of stem cell pluripotency and self-renewal. Alongside other transcription factors, such as OCT4 and NANOG, SOX2 forms a core regulatory network that sustains the undifferentiated state of embryonic stem cells and...

SOX2

SOS2 (Son of Sevenless Homolog 2): SOS2 is involved in cell signaling and the activation of the Ras/MAPK pathway. It serves as a crucial mediator in cellular responses to growth factors, cytokines, and extracellular signals, contributing to various physiological processes and cellular outcomes....



SOS2

ALOX15 (Arachidonate 15-Lipoxygenase): ALOX15, or arachidonate 15-lipoxygenase, is an enzyme that catalyzes the oxygenation of polyunsaturated fatty acids in lipids. It is implicated in the biosynthesis of bioactive lipid mediators that are involved in inflammatory and immune responses. ALOX15's activity is crucial in the metabolism of arachidonic acid to produce leukotrienes and lipoxins, compounds that have both pro-inflammatory and anti-inflammatory effects. The enzyme's function is significant in the pathophysiology of diseases such as asthma, atherosclerosis, and cancer. Variations in the ALOX15 gene can influence the enzyme's expression and activity, affecting an individual's susceptibility to these diseases....

ALOX15

FZD1 (Frizzled Class Receptor 1): FZD1 is a member of the frizzled receptor family, pivotal components of the Wnt signaling pathway. This pathway plays a central role in developmental processes, tissue regeneration, and cancer progression. FZD1, as a Wnt receptor, serves as a key player in modulating cellular responses to Wnt ligands, thereby influencing critical biological events and holding potential implications in disease mechanisms....

FZD1

FGF10 (Fibroblast Growth Factor 10): FGF10 is critical in embryonic development, particularly in limb and lung development. It's involved in the proliferation and differentiation of cells in these tissues, and mutations can lead to developmental disorders like aplasia of the lung....

FGF10

SHC1 (SHC Adaptor Protein 1): SHC1 is an adaptor protein involved in the signal transduction pathways that regulate cell growth, differentiation, and survival. By mediating the activation of the Ras/MAPK signaling pathway, SHC1 influences cellular responses to growth factors and cytokines. Dysregulation of SHC1 has been implicated in the development of various cancers, as well as in cardiovascular diseases, highlighting its critical role in cellular signaling and disease pathogenesis....



SHC1

CADM1 (Cell Adhesion Molecule 1): CADM1 is a protein-coding gene that plays a crucial role in cell adhesion, a process integral to cellular communication and development. It is known for its involvement in the nervous system and immune responses. Mutations in CADM1 have been associated with various types of cancers and neurological disorders, highlighting its significance in both normal physiology and disease states....



CADM1

PDE2A (Phosphodiesterase 2A): PDE2A is an enzyme that regulates cyclic nucleotide signaling by hydrolyzing cyclic AMP (cAMP) and cyclic GMP (cGMP). It plays a role in cellular signal transduction and is involved in processes such as smooth muscle contraction and cardiac function. PDE2A inhibitors are being explored for their potential in treating heart diseases and other conditions....

PDE2A

BRSK2 (BR Serine/Threonine Kinase 2): BRSK2 is a member of the AMP-activated protein kinase family and is involved in neuronal development and polarization. It plays a role in synaptic plasticity and neuron maturation. Mutations or alterations in BRSK2 have implications in neurological disorders and could contribute to the development of neurodevelopmental diseases....



BRSK2

CETP (Cholesteryl Ester Transfer Protein): CETP plays a critical role in lipid metabolism, particularly in the transfer of cholesteryl esters and triglycerides between lipoproteins. Its function impacts the composition of HDL (high-density lipoprotein) and LDL (low-density lipoprotein), making it significant in the study of cardiovascular diseases. CETP inhibitors have been explored as potential treatments for atherosclerosis due to their ability to raise HDL cholesterol levels....



CETP

BET1L (Bet1 Golgi Vesicular Membrane Trafficking Protein-Like): BET1L plays a crucial role in the vesicular transport system, specifically in the trafficking between the endoplasmic reticulum and the Golgi apparatus. This process is fundamental for the proper secretion and processing of proteins, which is essential for various cellular functions, including cell signaling, metabolism, and maintenance of cell structure. BET1L's role in this transport system makes it critical for normal cellular operation and the maintenance of cellular homeostasis....



BET1L

CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit): CHRNA4 encodes a subunit of the nicotinic acetylcholine receptor, which is important in the nervous system for neurotransmission. Mutations in CHRNA4 have been linked to certain forms of epilepsy and other neurological disorders, reflecting its role in modulating neuronal excitability and synaptic transmission....



CHRNA4

ZNF770 (Zinc Finger Protein 770): ZNF770 belongs to the zinc finger protein family, which plays diverse roles in DNA binding and gene transcription regulation. ZNF770 is involved in regulating the expression of genes associated with metabolic pathways and has been studied for its potential roles in glucose metabolism and insulin sensitivity. Understanding the function of ZNF770 may provide insights into mechanisms underlying metabolic disorders, such as diabetes....




ZNF770

FHOD3 (Formin Homology 2 Domain Containing 3): FHOD3 is a member of the formin family of proteins, which play a crucial role in the organization and regulation of the actin cytoskeleton. This protein is particularly significant in cardiac muscle and other tissues, where it facilitates the assembly of actin filaments, thereby influencing cell shape, adhesion, and motility. FHOD3's activity is pivotal during cell division, migration, and muscle contraction, contributing to the proper functioning of cardiovascular and skeletal systems. Its regulatory mechanisms involve the dynamic remodeling of the actin cytoskeleton, essential for heart development and function. Dysregulation of FHOD3 has been...

FHOD3

PCDH20 (Protocadherin 20): PCDH20 is a member of the protocadherin family, proteins involved in cell-cell adhesion and signaling, particularly in the nervous system. PCDH20 plays a role in neural development and connectivity, contributing to the formation and maintenance of neural networks. Dysfunctions in PCDH20 have implications for neurodevelopmental disorders and may affect cognitive and sensory processes....

PCDH20

ZNF704 (Zinc Finger Protein 704): ZNF704 is part of the zinc finger protein family, characterized by their DNA-binding motifs and roles in gene regulation. Its specific functions are not fully characterized but, like other zinc finger proteins, ZNF704 is likely involved in transcriptional regulation, influencing various cellular processes. It may have implications in development and disease mechanisms, particularly in contexts where gene expression regulation is crucial....

ZNF704

PDE4C (Phosphodiesterase 4C): PDE4C encodes an enzyme called phosphodiesterase 4C, which is involved in the regulation of intracellular levels of cAMP. It plays a role in cellular signaling and is a target for medications used to treat respiratory diseases such as asthma and chronic obstructive pulmonary disease (COPD)....

PDE4C

CACNB2, also known as Calcium Channel Voltage-Dependent Beta 2 Subunit, is a protein that plays a crucial role in the functioning of voltage-gated calcium channels (VGCCs). These channels are responsible for regulating calcium influx into cells in response to changes in membrane potential, thereby controlling various physiological processes such as neurotransmitter release, muscle contraction, and gene expression. One of the primary functions of CACNB2 is its role as a regulatory subunit of VGCCs. It interacts with the pore-forming alpha subunits of VGCCs, modulating their biophysical properties, including voltage sensitivity, kinetics of channel opening and closing, and calcium conductance. CACNB2 helps regulate...



CACNB2

CFH (Complement Factor H): CFH is a gene that plays a crucial role in the immune system, specifically in the regulation of the complement pathway. The complement system is part of the body's innate immunity, providing a rapid response to microbial infections. CFH produces a protein that controls the activity of the complement system, preventing it from damaging the body's own cells. Mutations in the CFH gene are linked to various diseases, including age-related macular degeneration (AMD), atypical hemolytic-uremic syndrome (aHUS), and certain types of kidney disease. The study of CFH is vital in understanding these conditions and developing targeted...



GYPC (Glycophorin C): GYPC encodes glycophorin C, a protein found on the surface of red blood cells. It is an essential component of the blood group antigens system and plays a critical role in determining blood type compatibility for transfusions. Understanding GYPC variants is crucial in blood transfusion medicine....

GYPC

FIBIN (Fibin): FIBIN is a gene that encodes a protein involved in embryonic development, particularly in the development of the heart and blood vessels. It plays a role in signaling pathways that regulate cell differentiation and tissue morphogenesis. Mutations in FIBIN are implicated in developmental disorders....

FIBIN

ZNF503 (Zinc Finger Protein 503): ZNF503 is a zinc finger protein involved in developmental processes, particularly in limb and neuronal development. It acts as a transcriptional regulator and has been implicated in the regulation of cell differentiation and growth. Dysregulation of ZNF503 may affect developmental pathways and has potential implications in developmental disorders and cancer....

ZNF503

GUCY2F (Guanylate Cyclase 2F): GUCY2F is a gene encoding guanylate cyclase, an enzyme that plays a role in regulating cyclic GMP (cGMP) levels in cells. It is involved in signal transduction and has specific functions in sensory neurons, including photoreceptor cells in the retina....

GUCY2F

ZNF438, also known as Zinc Finger Protein 438, is a member of the zinc finger protein family, which is characterized by the presence of zinc finger domains that mediate DNA binding and protein-protein interactions. These proteins are involved in various cellular processes, including transcriptional regulation, chromatin remodeling, and RNA processing. One of the primary functions of ZNF438 is its role as a transcription factor or regulator of gene expression. Through its zinc finger domains, ZNF438 binds to specific DNA sequences within the genome, thereby modulating the transcription of target genes. By interacting with other transcriptional regulators, chromatin-modifying enzymes, or transcriptional co-factors,...

ZNF438

ZNF365 (Zinc Finger Protein 365): ZNF365 is a member of the zinc finger protein family, which is involved in DNA binding and the regulation of gene expression. ZNF365 has been implicated in DNA damage response and repair mechanisms, playing a role in maintaining genomic stability. Variants in ZNF365 are associated with risks for several diseases, including breast cancer and Crohn’s disease, highlighting its role in cellular defense mechanisms and disease susceptibility....

ZNF365

CHAT (Choline Acetyltransferase): CHAT is the enzyme responsible for synthesizing acetylcholine, a critical neurotransmitter in both the peripheral and central nervous systems. Acetylcholine is involved in a wide range of functions, including muscle contraction, heart rate, memory, and learning. Dysfunctions in acetylcholine synthesis, due to alterations in CHAT activity, are associated with neurological disorders such as Alzheimer's disease and myasthenia gravis....



CHAT

CACHD1 (Cache Domain Containing 1): CACHD1 is a relatively less-characterized gene. It is thought to be involved in ion channel regulation and neuronal signaling, potentially impacting synaptic transmission and nervous system function....



CACHD1

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



CHRNB2

ZMYM6 (Zinc Finger MYM-Type Containing 6): ZMYM6 is a zinc finger protein thought to be involved in transcriptional regulation and chromatin remodeling. It may play a role in gene expression regulation and has been studied in the context of hematological malignancies. The specific functions of ZMYM6 in normal physiology and disease are still being elucidated....

ZMYM6

CHD6 (Chromodomain Helicase DNA Binding Protein 6): CHD6 is a member of the chromodomain helicase DNA-binding family, involved in chromatin remodeling. It plays a role in regulating gene expression and maintaining genomic integrity. Dysfunctions in CHD6 can affect cellular development and differentiation, and have been linked to various cancers....



CHD6

CA8, also known as Carbonic Anhydrase VIII, is an enzyme belonging to the carbonic anhydrase family, which catalyzes the reversible hydration of carbon dioxide to bicarbonate ions and protons. Positioned predominantly within the cytoplasm and mitochondria of cells, CA8 plays a crucial role in maintaining pH homeostasis and regulating ion transport processes. One of the distinctive features of CA8 is its expression in various tissues, including the brain, kidneys, and reproductive organs, highlighting its diverse physiological roles beyond traditional carbonic anhydrase functions. Within the central nervous system, CA8 is particularly abundant in Purkinje cells of the cerebellum, where it is implicated...



PDE6C (Phosphodiesterase 6C): PDE6C encodes a subunit of phosphodiesterase 6, an enzyme that is essential for phototransduction in the retina. Phototransduction is the process by which light signals are converted into electrical signals in photoreceptor cells, enabling vision. Mutations in PDE6C can lead to visual impairments and retinal disorders, emphasizing its critical role in visual perception. ...

PDE6C

CA3 (Carbonic Anhydrase III): CA3 is an enzyme that plays a significant role in pH regulation and ion exchange in tissues, particularly in muscles. It's involved in the rapid conversion of carbon dioxide to bicarbonate and protons, contributing to various physiological processes including respiratory gas transport and acid-base balance in blood and tissues....



ZKSCAN5 (Zinc Finger with KRAB and SCAN Domains 5): ZKSCAN5 encodes a zinc finger protein with KRAB (Krüppel-associated box) and SCAN (SRE-ZBP, CTfin51, AW-1 and Number 18 cDNA) domains, which are involved in transcriptional regulation and DNA binding. The specific functions of ZKSCAN5 are still under investigation....

ZKSCAN5

GTPBP10 (GTP-binding protein 10): GTPBP10 is a protein involved in the regulation of cellular processes through its interaction with guanine nucleotides. This protein belongs to the GTP-binding protein family, which encompasses a diverse group of proteins that play essential roles in signal transduction, protein synthesis, and intracellular trafficking. GTPBP10 is thought to be involved in modulating GTPase activity and may participate in the regulation of cellular functions such as protein translation and ribosome assembly. While the specific functions of GTPBP10 are still being elucidated, studies suggest its involvement in mitochondrial function and ribosomal biogenesis. Additionally, mutations or dysregulation of GTPBP10 have...

GTPBP10

GSTP1 (Glutathione S-Transferase Pi 1): GSTP1 plays a role in detoxification processes by conjugating reduced glutathione to a wide variety of exogenous and endogenous compounds. Polymorphisms in GSTP1 are associated with susceptibility to cancer and other diseases where detoxification is a factor....

GSTP1

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

GSTM3

SHPRH (SNF2 Histone Linker PHD RING Helicase): SHPRH is a DNA helicase involved in the repair of DNA damage and the maintenance of genomic stability. It plays a critical role in the DNA damage response by facilitating the repair of DNA double-strand breaks, thereby preventing mutations that could lead to cancer. SHPRH has been identified as a tumor suppressor, with mutations in this gene associated with increased susceptibility to various cancers, highlighting its importance in protecting against genomic instability and tumorigenesis....



SHPRH

ENOSF1 (Enolase Superfamily Member 1): ENOSF1, enolase superfamily member 1, is implicated in the cellular response to vitamin B2 (riboflavin) availability and is associated with the metabolism of cancer cells, particularly in how they adapt to varying nutrient conditions. Alterations in ENOSF1 expression have been studied in the context of tumor metabolism, suggesting a potential role in cancer progression and the development of targeted therapies that exploit metabolic vulnerabilities of cancer cells....

ENOSF1

SHQ1 (SHQ1, H/ACA Ribonucleoprotein Assembly Factor): SHQ1 is a crucial assembly factor for H/ACA ribonucleoproteins (RNPs), which are involved in the processing and modification of RNA. This includes the maturation of rRNA, snRNA, and the stabilization of telomerase RNA component (TERC). SHQ1 plays a vital role in the biogenesis of H/ACA RNPs, essential for proper cell function and maintenance of genomic stability. Disruptions in SHQ1 function can lead to defects in RNA processing and are implicated in various cellular dysfunctions....



SHQ1

ZFPM1 (Zinc Finger Protein, FOG Family Member 1): ZFPM1, also known as FOG-1, is a cofactor that interacts with GATA family transcription factors, playing a crucial role in the development and differentiation of various cell types, including those in the heart and blood. It is particularly important for erythroid and megakaryocyte differentiation. Mutations or dysregulation of ZFPM1 can affect hematopoiesis, leading to blood disorders. Additionally, ZFPM1's involvement in cardiac development implicates it in congenital heart defects. Research on ZFPM1 focuses on understanding its role in the intricate network of gene regulation governing cell fate decisions, with implications for treating related...

ZFPM1

SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein containing SH3 (Src homology 3) and SYLF domains, suggesting a role in protein-protein interactions. The specific function of SH3YL1 is still under investigation, but it may be involved in cellular signaling pathways and membrane dynamics....



SH3YL1

FERD3L (Fer3-Like BHLH Transcription Factor): FERD3L is a transcription factor with potential roles in neuronal development and differentiation. Its exact functions are still being elucidated, but it may be involved in neurodevelopmental processes....

FERD3L

ZFP57 (ZFP57 Zinc Finger Protein): ZFP57 is a KRAB-zinc finger protein involved in the regulation of genomic imprinting and methylation. It's essential for maintaining the epigenetic stability of imprinted genes during early embryonic development. Mutations in ZFP57 have been linked to transient neonatal diabetes and other imprinting disorders, underscoring its role in epigenetic regulation and developmental processes....

ZFP57

SGK1 (Serum/Glucocorticoid Regulated Kinase 1): SGK1 is a serine/threonine kinase regulated by glucocorticoids and involved in cell survival, ion transport, and metabolic processes. It plays a role in responding to stress and in the regulation of ion channels, particularly in the kidneys, affecting sodium and water balance. Dysregulation of SGK1 has implications in hypertension, diabetic nephropathy, and could contribute to the development of certain cancers....



SGK1

C1ORF87 (Chromosome 1 Open Reading Frame 87): C1ORF87 is a lesser-characterized gene, and its function in human biology is not fully established. Genes identified as "open reading frames" (ORFs) are often subjects of ongoing research to determine their roles in cellular processes and their potential implications in health and disease....



C1ORF87

FCHSD2 (FCH And Double SH3 Domains 2): FCHSD2 is involved in cellular processes like endocytosis and cytoskeletal organization. It's notable for its role in vesicle transport and has been linked to certain cancers. Its function in cell signaling and membrane dynamics makes it relevant in understanding cellular communication and disease mechanisms....

FCHSD2

ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is part of the zinc finger protein family, known for roles in DNA binding and gene regulation. Its precise function is not well-defined, but like other zinc finger proteins, it may be involved in transcriptional regulation, RNA processing, or DNA repair processes, impacting various cellular functions and potentially playing a role in disease mechanisms....




ZCCHC7

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



CITED2 (Cbp/p300-Interacting Transactivator With Glu/Asp-Rich Carboxy-Terminal Domain 2): CITED2 is a transcriptional modulator that interacts with various transcription factors and regulates gene expression. It's involved in embryonic development, including heart and neural development, and is implicated in response to hypoxia. Dysregulation of CITED2 can contribute to congenital abnormalities and other developmental disorders....



CITED2

C19ORF12 (Chromosome 19 Open Reading Frame 12): C19ORF12, located on chromosome 19, encodes a protein of currently unclear function but is implicated in mitochondrial integrity and metabolism. Its significance has been underscored by its association with neurodegeneration with brain iron accumulation (NBIA), specifically mitochondrial membrane protein-associated neurodegeneration (MPAN). This protein is thought to play a role in the maintenance of mitochondrial function, possibly through involvement in lipid metabolism or the protection of mitochondrial membranes from oxidative stress. Mutations in the C19ORF12 gene have been linked to progressive neurological symptoms, including motor dysfunction, cognitive decline, and iron accumulation in the brain....



C19ORF12

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

IGF1R

FGF5 (Fibroblast Growth Factor 5): FGF5 is a member of the fibroblast growth factor family, a group of proteins known for their roles in cellular proliferation, differentiation, and signaling. As a key mediator of biological processes, FGF5 is involved in the regulation of hair growth cycles, and its activity has been linked to influencing hair length in various species. Beyond its role in hair follicle regulation, FGF5 contributes to the development and repair of tissues, including the nervous system, where it plays a role in neural development. Dysregulation of FGF5 has been implicated in certain pathological conditions, such as cancer,...

FGF5

ZBTB26 (Zinc Finger And BTB Domain Containing 26): ZBTB26 is a gene that encodes a transcription factor with zinc finger and BTB (Broad-Complex, Tramtrack, Bric-a-Brac) domains. It is involved in the regulation of gene expression and may play a role in developmental processes and immune responses. Further research is needed to fully understand its function and implications....




ZBTB26

PCNX3 (Pecanex Homolog 3): PCNX3 is a less-characterized gene but is thought to be involved in cellular processes like protein processing and trafficking. Its role in human physiology and pathology is still being elucidated....




PCNX3

BIN1 (Bridging Integrator 1): BIN1 is a protein that is essential for cellular membrane dynamics. It is involved in processes such as endocytosis and membrane curvature. BIN1 acts as a bridging factor and plays a critical role in facilitating membrane invaginations called tubules, which are essential for various cellular functions....



BIN1

CHL1 (Cell Adhesion Molecule L1-Like): CHL1 is a cell adhesion molecule involved in the development and function of the nervous system. It plays a significant role in neuron migration and synaptic plasticity. Alterations in CHL1 are linked to neurodevelopmental disorders, including autism and intellectual disabilities....



CHL1

CKM (Creatine Kinase, Muscle): CKM is an enzyme specific to muscle tissue, where it plays a crucial role in energy metabolism by catalyzing the reversible transfer of phosphate between ATP and creatine to maintain a constant supply of ATP during muscle contraction. Elevated levels of CKM in the blood are indicative of muscle damage and are used as a biomarker for myocardial infarction, muscular dystrophy, and other conditions involving muscle injury....



FMO4 (Flavin Containing Monooxygenase 4): FMO4 is part of the flavin-containing monooxygenase family, enzymes that play a crucial role in the detoxification of xenobiotics, drugs, and endogenous compounds by catalyzing the oxidation of soft nucleophiles. FMO4 is expressed primarily in the liver and has a substrate specificity that can influence the metabolism and elimination of various substances, potentially affecting drug responses and toxicity. Research into FMO4 focuses on its role in metabolic pathways and its implications for pharmacology and toxicology....

FMO4

CHMP3 (Charged Multivesicular Body Protein 3): CHMP3 is part of the ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) involved in the formation of multivesicular bodies. It plays a critical role in the sorting of ubiquitinated membrane proteins for degradation in lysosomes....



CHMP3

SHMT1 (Serine Hydroxymethyltransferase 1): SHMT1 catalyzes the conversion of serine and tetrahydrofolate to glycine and methylenetetrahydrofolate, crucial for nucleotide synthesis and methylation reactions. Its function is vital for DNA replication and repair, impacting cell proliferation and genetic stability. SHMT1's role in folate metabolism links it to cancer risk and neurological disorders....



SHMT1

CHDH (Choline Dehydrogenase) plays a vital role in choline metabolism, converting choline into betaine. This process is essential for the synthesis of acetylcholine, a critical neurotransmitter, and for the methylation of homocysteine, reducing the risk of cardiovascular conditions. CHDH activity affects choline availability in the body, influencing liver function, brain development, and nervous system health. Research into CHDH can provide insights into nutritional requirements and potential interventions for metabolic disorders....



CHDH

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

IGF2

SHLD1 (Shieldin Complex Subunit 1): SHLD1 is a component of the shieldin complex, which plays a key role in DNA repair. It is involved in the repair of double-strand breaks, particularly in non-homologous end joining, a crucial process for maintaining genomic stability and preventing mutagenesis....



SHLD1

PCSK2 (Proprotein Convertase Subtilisin/Kexin Type 2): PCSK2 is involved in the processing of precursor proteins into their biologically active forms. It is particularly important in the maturation of neuropeptides and hormones in neuroendocrine tissues. Dysregulation of PCSK2 can affect the synthesis of important signaling molecules, impacting processes like stress response, metabolism, and growth....




PCSK2

FGF13 (Fibroblast Growth Factor 13): FGF13, a member of the fibroblast growth factor (FGF) family, operates at the crossroads of cellular growth and differentiation. This protein is a key orchestrator in the complex symphony of cellular processes, influencing cell development and differentiation. Its spotlight in the realm of neuroscience is well-established, where it contributes to the functioning of neurons. Researchers delve into the depths of FGF13's impact on neurological disorders, aiming to unlock its potential in understanding conditions that affect the brain and nervous system....

FGF13

BLOC1S2 (Biogenesis of Lysosomal Organelles Complex-1, Subunit 2): BLOC1S2 is part of a protein complex involved in the biogenesis of lysosome-related organelles, such as melanosomes and platelet dense granules. Dysfunctions in BLOC1S2 can affect organelle formation and function, potentially leading to disorders related to pigmentation or blood clotting....



BLOC1S2

CHODL (Chondrolectin): CHODL encodes a protein that may be involved in cell adhesion and chondrocyte differentiation. Its exact function is not fully understood, but it may have roles in cartilage formation and musculoskeletal development....



CHODL

XDH, or Xanthine dehydrogenase, is an enzyme that plays a crucial role in purine metabolism, a pathway responsible for the synthesis and degradation of purine nucleotides such as adenine and guanine. XDH catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid, the final product of purine degradation in humans. One of the primary functions of XDH is its involvement in the breakdown of purines to uric acid, a process essential for the elimination of excess purines from the body. Purines are derived from dietary sources and the breakdown of nucleic acids, and their metabolism is tightly regulated to...

CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit): CHRNB3 is another subunit of the nicotinic acetylcholine receptor, and like CHRNA4, is involved in cholinergic neurotransmission. Genetic variations in CHRNB3 are associated with nicotine dependence and related behavioral traits, highlighting its role in the addictive properties of nicotine and potential influence on neural circuitry involved in addiction....



CHRNB3

IGFBP3 (Insulin-Like Growth Factor Binding Protein 3): IGFBP3 encodes a protein that binds to insulin-like growth factors (IGFs), regulating their bioavailability. This regulation has a profound impact on cell growth, development, and metabolism. IGFBP3 is of particular interest in cancer research, as it can either inhibit or enhance the actions of IGFs, depending on cellular contexts, making it a key player in tumorigenesis and therapeutic strategies....

IGFBP3

CHRM2 (Cholinergic Receptor Muscarinic 2): CHRM2 is a member of the muscarinic cholinergic receptor family, which plays a crucial role in mediating the effects of acetylcholine in the central and peripheral nervous systems. This G protein-coupled receptor is involved in a variety of physiological functions, including modulation of heart rate, smooth muscle contraction, and cognitive processes. CHRM2's influence on cardiac function makes it a significant factor in cardiovascular regulation, where it contributes to the slowing of heart rate and reduction of cardiac contractility. Additionally, its role in the brain implicates it in memory, learning, and potentially in the pathophysiology of...



CHRM2

CHD1L (Chromodomain Helicase DNA Binding Protein 1-Like): CHD1L is a member of the chromodomain helicase DNA-binding family, playing a role in chromatin remodeling and DNA repair. It is involved in maintaining genomic stability and has been implicated in the development and progression of various cancers, particularly liver cancer....



CHD1L

PDE10A (Phosphodiesterase 10A): PDE10A encodes an enzyme called phosphodiesterase 10A, which regulates intracellular signaling by hydrolyzing cyclic nucleotides, particularly cAMP and cGMP. PDE10A is primarily expressed in the brain and is involved in neuronal signaling. It has been implicated in neurological and psychiatric disorders....

PDE10A

CAMK1G (Calcium/Calmodulin-Dependent Protein Kinase IG): CAMK1G, also known as calcium/calmodulin-dependent protein kinase IG, is part of the CaMK kinase family that plays pivotal roles in the calcium signaling pathways. These kinases are activated by calcium influx and calmodulin binding, leading to the phosphorylation of various protein targets involved in numerous cellular processes, including gene expression, cell cycle progression, and synaptic transmission. CAMK1G is specifically implicated in the regulation of neuronal function and plasticity, contributing to learning and memory. Dysregulation of CAMK1G activity has been associated with neurological disorders, underlining its importance in maintaining neuronal health and signaling balance....



CAMK1G

FGGY (FGGY Carbohydrate Kinase Domain Containing): FGGY is a carbohydrate kinase involved in carbohydrate metabolism. Its exact role and functions are not fully elucidated, but carbohydrate kinases are known to be important in energy metabolism and may play roles in metabolic disorders....

FGGY

IKBIP (Inhibitor of Kappa Light Polypeptide Gene Enhancer in B-Cells, Inhibitor Protein): IKBIP is involved in the negative regulation of NF-κB signaling, a pathway critical for immune response, inflammation, and cell survival. It acts by inhibiting the activity of NF-κB in the cytoplasm, preventing its translocation to the nucleus and activation of target genes. Dysregulation of NF-κB signaling through IKBIP has implications in autoimmune diseases, chronic inflammation, and cancer, emphasizing its role in controlling immune and inflammatory responses....

IKBIP

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

FFAR4

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



CNTNAP5

FDX1 (Ferredoxin 1): FDX1 plays a crucial role in mitochondrial electron transport, facilitating the transfer of electrons in various metabolic processes, including steroid hormone biosynthesis and detoxification reactions. It is a key component in the synthesis of iron-sulfur clusters, essential cofactors for many enzymes. Dysregulation of FDX1 has implications for energy metabolism and has been explored in the context of diseases related to mitochondrial function....

FDX1

PHACTR4 (Phosphatase and Actin Regulator 4): PHACTR4 is a multifunctional protein involved in the regulation of cellular signaling pathways and cytoskeletal dynamics. As a member of the PHACTR family, it exerts its effects through interactions with protein phosphatase 1 (PP1) and actin filaments. PHACTR4 has been implicated in various cellular processes, including cell cycle progression, cell migration, and neuronal development. Its role in modulating PP1 activity suggests involvement in the regulation of diverse cellular functions, including gene expression and metabolism. Additionally, PHACTR4 has been associated with cardiovascular diseases, particularly coronary artery disease, where it influences endothelial function and vascular remodeling....




PHACTR4

SH2B1 (SH2B Adaptor Protein 1): SH2B1 is a key adaptor protein that supports various intracellular signaling pathways, especially those related to insulin and leptin. It's important for energy balance, body weight regulation, and glucose metabolism. Genetic variants of SH2B1 are associated with obesity and insulin resistance....



SH2B1

PDE3A (Phosphodiesterase 3A): PDE3A is an enzyme involved in the regulation of cyclic nucleotides, playing a key role in cardiovascular function and lipid metabolism. It is important for the regulation of blood vessel tone and heart contractility. Inhibitors of PDE3A are used in the treatment of certain cardiovascular diseases....




PDE3A

PHF14 (PHD Finger Protein 14): PHF14 is a gene encoding a protein with a PHD finger domain, suggesting a role in chromatin-mediated regulation of gene expression. It may be involved in developmental processes and cell differentiation. Dysregulation of PHF14 can have implications in developmental disorders and various cancers....




PHF14

FCRL3 (Fc Receptor-Like 3): FCRL3 is a member of the Fc receptor-like (FCRL) gene family and is primarily expressed in B cells. It is involved in modulating B cell receptor signaling and antibody production. FCRL3 may play a role in regulating immune responses and autoimmune diseases....

FCRL3

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



SFTPA1

CERS6, also known as Ceramide Synthase 6, is an enzyme involved in the biosynthesis of ceramides, which are essential components of cell membranes and serve as signaling molecules in various cellular processes. Positioned within the endoplasmic reticulum (ER) of cells, CERS6 plays a crucial role in catalyzing the synthesis of ceramides by acylating sphingoid bases with fatty acyl-CoA substrates. One of the primary functions of CERS6 is its involvement in the generation of specific ceramide species with distinct acyl chain lengths and saturation levels. Ceramides produced by CERS6 can vary in their fatty acyl composition, which influences their biophysical properties and...



CERS6

SGCD (Sarcoglycan Delta): SGCD is part of the dystrophin-glycoprotein complex, crucial for muscle integrity and function. Mutations in SGCD are associated with limb-girdle muscular dystrophy, a group of genetic disorders that weaken and waste the muscles around the hips and shoulders....



TTC39C

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