DNA

ABCG2 (ATP-Binding Cassette Subfamily G Member 2) is a protein that acts as a cellular transporter, moving various molecules — including drugs, toxins, and metabolites — out of cells. As part of the ATP-binding cassette (ABC) transporter family, it plays a crucial role in protecting tissues from harmful substances and contributes to drug resistance.

ACP1 (Acid Phosphatase 1, Soluble) is a gene that encodes an enzyme involved in various cellular processes, including signal transduction and energy metabolism. It exists in multiple isoforms with distinct functions, affecting immune response and cellular signaling. Variations in ACP1 have been linked to a higher risk of certain autoimmune diseases and metabolic disorders.

ACTN3 is a gene that encodes the protein Alpha-actinin-3, primarily located in fast-twitch muscle fibers. These fibers are crucial for generating rapid and powerful muscle contractions, essential for explosive athletic performance. Variations in the ACTN3 gene, particularly the R577X polymorphism, are linked to differences in sprinting ability and endurance, making this gene significant in sports genetics.

ADGRL3 (Adhesion G Protein-Coupled Receptor L3) is a gene that encodes a protein belonging to the adhesion G protein-coupled receptor family, which enables cell-to-cell communication and supports the development and function of the nervous system. It plays a crucial role in brain formation, neuronal signaling, and maintaining neural connectivity. Variations in ADGRL3 have been linked to neurological disorders, including attention deficit hyperactivity disorder (ADHD).

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

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

ALOX5AP (Arachidonate 5-Lipoxygenase-Activating Protein): ALOX5AP is a gene that encodes a protein involved in activating the enzyme arachidonate 5-lipoxygenase (ALOX5). This enzyme plays a crucial role in metabolizing arachidonic acid and producing leukotrienes, which are important inflammatory mediators. Variations in ALOX5AP have been associated with cardiovascular diseases and asthma.

ANGPTL4 (Angiopoietin-Like 4): ANGPTL4 is a multifunctional protein that plays key roles in regulating lipid metabolism, blood vessel formation (angiogenesis), and inflammation. It influences these processes by inhibiting lipoprotein lipase (LPL) activity, which raises plasma triglyceride levels, and by limiting endothelial cell migration and tube formation, affecting vascular growth and remodeling. Additionally, ANGPTL4 helps regulate inflammatory responses and tissue repair. Imbalances in ANGPTL4 function have been linked to metabolic conditions such as obesity, dyslipidemia, and insulin resistance.

APOC4 (Apolipoprotein C-IV): APOC4 is a protein from the apolipoprotein family that plays a crucial role in lipid metabolism and transport. It helps regulate triglyceride-rich lipoprotein particles and affects how lipoproteins interact with their receptors and lipid transfer proteins. APOC4 is present in various plasma lipoprotein fractions, including very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL). Its role in lipid metabolism connects it to cardiovascular health, with dysregulation or genetic variations potentially impacting lipid levels and contributing to atherosclerosis, coronary artery disease, and other lipid disorders.

ARL14EP (ADP-ribosylation factor-like protein 14E): ARL14EP is a protein that plays a crucial role in regulating intracellular vesicle trafficking and membrane dynamics. As a member of the ARL protein family, it helps control the movement of vesicles within cells, affecting processes such as protein secretion, endocytosis, and organelle organization. ARL14EP is also involved in cell signaling and cytoskeletal regulation, making it essential for overall cellular function. Changes in ARL14EP activity or expression have been associated with various diseases, including neurodegenerative disorders, cancer, and metabolic conditions.

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

ATP5MK (ATP Synthase Membrane Subunit K) is a part of the mitochondrial ATP synthase complex, crucial for producing ATP during cellular respiration. It plays a role in cellular energy metabolism, and dysfunction in its activity can disrupt energy balance, potentially causing metabolic disorders.

ATP5PD (ATP Synthase Peripheral Stalk Subunit DAPIT) is a protein subunit of mitochondrial ATP synthase, an enzyme complex essential for cellular energy production. It contributes to the synthesis of ATP—the primary energy currency of cells—and supports mitochondrial integrity, playing a vital role in maintaining overall cellular metabolism.

B3GALNT1 (Beta-1,3-N-Acetylgalactosaminyltransferase 1) is an enzyme that plays a crucial role in glycosylation, a process vital for proper protein function. It helps create specific glycan structures important for cell-cell adhesion and signaling. Mutations in B3GALNT1 can lead to muscular dystrophy-dystroglycanopathy, a group of disorders affecting muscle function.

B3GNTL1 (Beta-1,3-N-Acetylglucosaminyltransferase Like 1): B3GNTL1 is an enzyme involved in the biosynthesis of complex carbohydrates, specifically contributing to the formation of glycosaminoglycans, which are key components of the extracellular matrix. These enzymes play important roles in cell communication, signaling, and maintaining structural integrity. Although the full biological functions of B3GNTL1 are still being studied, disruptions in glycosaminoglycan synthesis can impact development and are linked to conditions such as cancer and congenital disorders.

B4GALT6 (Beta-1,4-galactosyltransferase 6) is an enzyme that plays a crucial role in the biosynthesis of glycosaminoglycans (GAGs) — complex carbohydrates found in proteoglycans. Primarily located in the Golgi apparatus, it catalyzes the transfer of galactose from UDP-galactose to core proteins, initiating the formation of GAG chains such as chondroitin sulfate.

BACH2 (BTB and CNC Homology 1, Basic Leucine Zipper Transcription Factor 2): BACH2 is a gene that encodes a transcription factor involved in regulating the immune system. It plays a key role in maintaining immune balance by controlling the development and function of important immune cells, such as B cells and T cells. Dysregulation of BACH2 has been linked to autoimmune diseases and increased susceptibility to infections.

BARHL2 (BarH-Like Homeobox 2): BARHL2 is a homeobox transcription factor that plays a crucial role in neural development. It is involved in the differentiation and specification of certain neuronal cell types during embryogenesis, contributing to the formation of a functional nervous system.

BCL11A (B-Cell CLL/Lymphoma 11A): BCL11A is a transcription factor critical for the development and function of blood cells. It plays a central role in regulating fetal hemoglobin levels and is a primary target in research on sickle cell disease and beta-thalassemia. BCL11A is also implicated in the progression of certain blood cancers.

BCO1 (Beta-Carotene Oxygenase 1) is an enzyme that plays a crucial role in converting beta-carotene into retinal, the active form of vitamin A. Vitamin A is vital for vision, immune function, and cell communication. The activity of BCO1 determines how efficiently dietary beta-carotene is converted into vitamin A, influencing overall vitamin A levels and related health effects. Variations in the BCO1 gene can affect an individual's ability to process beta-carotene and their risk of vitamin A deficiency.

BDNF (Brain-Derived Neurotrophic Factor) is a gene that encodes a protein essential for the survival, growth, and maintenance of neurons in the brain. BDNF plays a vital role in synaptic plasticity, learning, and memory. Changes in BDNF levels have been linked to a variety of neurological and psychiatric disorders.

BHMT2 (Betaine-Homocysteine S-Methyltransferase 2) is a gene involved in homocysteine metabolism, functioning similarly to its counterpart, BHMT. It assists in converting homocysteine to methionine, a process important for both cardiovascular and neurological health. Although it has been less studied than BHMT, BHMT2 affects homocysteine levels in the body, which may influence heart function and neurological conditions. Understanding BHMT2’s role can offer insights into its impact on metabolic pathways and disease risk.

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

BLOC1S2 (Biogenesis of Lysosomal Organelles Complex-1, Subunit 2) is a protein component of a complex that supports the formation of lysosome-related organelles, including melanosomes and platelet dense granules. Proper function of BLOC1S2 is essential for pigmentation processes and platelet function, while defects can lead to disorders affecting skin color and blood clotting.

BRK1 (Breakpoint cluster region kinase 1): BRK1 is a gene involved in signaling pathways that regulate cell proliferation, differentiation, and migration. As part of the breakpoint cluster region kinase family, BRK1 affects processes such as cell cycle progression, cytoskeletal organization, and cell adhesion. It is also associated with immune regulation and oncogenic signaling, with dysregulation potentially contributing to cancer and inflammatory diseases.

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

CCDC167 (Coiled-Coil Domain Containing 167): CCDC167 is a gene that encodes a protein containing a coiled-coil domain, a structural motif known for enabling protein-protein interactions. Although its exact biological functions are still under investigation, CCDC167 may be involved in important cellular processes that have yet to be fully defined.

CHDH (Choline Dehydrogenase) is a crucial enzyme involved in choline metabolism, converting choline into betaine. This process supports the production of acetylcholine, a key neurotransmitter, and helps regulate homocysteine levels, which is vital for cardiovascular health. CHDH activity affects choline availability, impacting liver function, brain development, and nervous system health. Researching CHDH can provide valuable insights into nutritional requirements and interventions for metabolic disorders.

CHMP3 (Charged Multivesicular Body Protein 3): CHMP3 is a key component of the ESCRT-III complex (Endosomal Sorting Complex Required for Transport III). It plays a vital role in the formation of multivesicular bodies and is involved in sorting ubiquitinated membrane proteins for degradation in lysosomes, helping regulate cellular protein turnover and membrane trafficking.

CHODL (Chondrolectin) is a gene that encodes a protein potentially involved in cell adhesion and chondrocyte differentiation. While its exact function is not yet fully understood, evidence suggests it may play a role in cartilage formation and musculoskeletal development.

CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit) is a protein that is part of the nicotinic acetylcholine receptor, which plays a crucial role in cholinergic neurotransmission. Variations in the CHRNB3 gene have been associated with nicotine dependence and related behavioral traits, indicating its involvement in the brain’s addiction pathways and regulation of neural circuits.

CSK (C-Src Tyrosine Kinase) is a crucial regulatory enzyme that controls the activity of Src family tyrosine kinases by phosphorylating and inhibiting them. These kinases play vital roles in cell growth, differentiation, and survival signaling pathways. Dysregulation of CSK can result in abnormal cell signaling, contributing to cancer and other diseases. Studying CSK’s regulatory functions helps us understand cell signaling control and provides potential targets for therapies in diseases involving tyrosine kinase imbalances.

CXCL5 (C-X-C motif chemokine ligand 5) is a signaling protein that helps recruit neutrophils—a type of white blood cell—to sites of inflammation or injury. It plays an essential role in the body’s innate immune defense and contributes to inflammatory processes in conditions ranging from infections to chronic inflammatory diseases. CXCL5 is also associated with cancer progression, where it can promote tumor growth and metastasis by attracting and activating neutrophils within the tumor microenvironment.

CYP4F11 (Cytochrome P450 Family 4 Subfamily F Member 11): CYP4F11 is an enzyme in the cytochrome P450 family. It plays a crucial role in the oxidation of fatty acids and drug metabolism. The function of CYP4F11 in lipid processing and drug detoxification is essential for understanding individual differences in drug response and the risk of diseases related to lipid metabolism.

CYP4F2 (Cytochrome P450 Family 4 Subfamily F Member 2) is an enzyme involved in the metabolism of fatty acids, vitamin K, eicosanoids, and various drugs and toxins. It helps regulate blood clotting and inflammation. Genetic variations in CYP4F2 can influence how the body processes certain medications, especially anticoagulants.

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2) is an enzyme involved in fatty acid and lipid metabolism, including the formation of fatty acid epoxides that play a role in regulating blood pressure and controlling inflammation. Variants of CYP4V2 are associated with Bietti’s crystalline dystrophy, a rare retinal condition that can lead to progressive vision loss, highlighting its significance in both lipid metabolism and eye health.

DAAM2 (Dishevelled Associated Activator of Morphogenesis 2) is a protein that regulates cytoskeletal organization and cell shape. It plays a key role in processes such as cell movement, tissue development, and morphogenesis.

DHFR (Dihydrofolate Reductase) is an enzyme that plays a crucial role in DNA synthesis and repair. It catalyzes the conversion of dihydrofolate to tetrahydrofolate, an essential cofactor for producing purines, thymidylate, and certain amino acids. This process is vital for cell growth and division, making DHFR a key target in cancer treatment, where inhibitors such as methotrexate block its activity to stop rapidly dividing cells.

DLEU7 (Deleted in Lymphocytic Leukemia 7) is a gene recognized for its potential role in cancer biology, especially in chronic lymphocytic leukemia (CLL). It is thought to affect key processes such as cell cycle regulation and programmed cell death (apoptosis). Loss or dysfunction of DLEU7 may contribute to cancer development and progression, making it a key focus in research for new diagnostic markers and targeted therapies.

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

ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1) is a protein that facilitates electron transfer across the cell membrane, contributing to cellular redox balance. It is associated with the regulation of cell growth and the aging process, although its precise role in human physiology and disease is not yet fully understood.

EPAS1 (Endothelial PAS Domain Protein 1), also known as HIF-2α, is a transcription factor that helps the body respond to low oxygen (hypoxia) in tissues. It regulates genes involved in red blood cell production, iron metabolism, and blood vessel formation. EPAS1 is associated with high-altitude adaptation and plays a role in certain diseases, including some cancers.

EPB41L4A (Erythrocyte Membrane Protein Band 4.1 Like 4A): EPB41L4A is a gene that encodes a protein crucial for cytoskeletal organization and membrane stability. This protein helps preserve the structural integrity of cells, especially red blood cells. Mutations in EPB41L4A can alter red blood cell shape and result in related disorders.

EPDR1 (Epidermal growth factor receptor pathway substrate 15-related protein 1) is a protein involved in cellular signaling, similar to MMP15’s role in extracellular matrix dynamics. As part of the epidermal growth factor receptor (EGFR) pathway substrate family, EPDR1 participates in regulating key processes such as cell proliferation, survival, and differentiation. It interacts with important signaling molecules to modulate growth factor signaling cascades, helping cells respond to external signals like growth factors and cytokines. Through these actions, EPDR1 influences cell fate decisions and maintains tissue homeostasis.

ESR2 (Estrogen Receptor 2): ESR2 is a gene that codes for one of the two primary estrogen receptors in the body. It mediates the effects of estrogen, a key hormone involved in reproductive functions as well as bone, cardiovascular, and neural health. ESR2 plays important roles in various physiological processes and is a target in hormone replacement therapies and certain cancer treatments.

ETS1 (ETS Proto-Oncogene 1, Transcription Factor): ETS1 is a key member of the ETS family of transcription factors that regulate gene expression. It plays important roles in controlling immune responses, cell growth, and development. ETS1 is involved in processes such as angiogenesis, lymphocyte formation, and tumor development, and has been linked to several cancers and autoimmune disorders.

FADS2 (Fatty Acid Desaturase 2) is an enzyme that plays a crucial role in the production of polyunsaturated fatty acids — essential components of cell membranes and precursors to key signaling molecules. Variations in FADS2 activity can affect how the body metabolizes essential fatty acids and are linked to metabolic and inflammatory health outcomes.

FAR1 (Fatty Acyl-CoA Reductase 1): FAR1 is a gene that encodes an enzyme responsible for converting fatty acyl-CoA into fatty alcohols, a crucial step in the production of wax esters and other complex lipids. These lipids contribute to the structure of cell membranes and help protect cells from environmental stress. FAR1’s role in lipid metabolism is associated with skin barrier function, lipid storage disorders, and potential uses in biofuel and industrial production.

FBXO8 (F-Box Protein 8): FBXO8 is part of the F-box protein family, which plays a crucial role in the ubiquitin-proteasome system — the body’s mechanism for controlling protein degradation and turnover. FBXO8 works by helping to identify specific proteins for breakdown, thereby affecting key cellular processes such as the cell cycle, signal transduction, and immune response. Although its precise targets and functions are still under investigation, FBXO8’s role in protein degradation highlights its importance in maintaining cellular homeostasis and its potential link to diseases related to protein misfolding or aggregation, including neurodegenerative disorders.

FCRL3 (Fc Receptor-Like 3) is a protein mainly expressed in B cells and is a member of the Fc receptor-like (FCRL) family. It plays a role in regulating B cell receptor signaling and antibody production, affecting immune system function and potentially contributing to the development of autoimmune diseases.

FCRL6 (Fc Receptor-Like 6): FCRL6 is a gene that encodes a protein found on specific T cells and natural killer (NK) cells, where it plays a role in regulating immune responses. It may affect how these cells react during infections, autoimmune diseases, and cancer. Research into FCRL6 is investigating its potential as a therapeutic target to enhance immune regulation.

FGF5 (Fibroblast Growth Factor 5): FGF5 is a gene that encodes a protein belonging to the fibroblast growth factor family, which plays a role in cell growth, differentiation, and signaling. FGF5 regulates hair growth cycles and affects hair length across different species. It also plays a part in tissue development and repair, including functions in neural development. Abnormal FGF5 activity has been associated with certain diseases, such as cancer.

FMO4 (Flavin Containing Monooxygenase 4): FMO4 is an enzyme from the flavin-containing monooxygenase family. It plays a crucial role in the detoxification process by catalyzing the oxidation of various compounds, including drugs, xenobiotics, and endogenous molecules. Mainly expressed in the liver, FMO4 helps regulate the metabolism and elimination of substances, which can affect drug efficacy and toxicity. Ongoing research investigates its importance in metabolic pathways and its potential impact on pharmacology and toxicology.

FSHR, or Follicle-Stimulating Hormone Receptor, is a receptor protein mainly found on ovarian granulosa cells in females and Sertoli cells in males. It plays a crucial role in reproductive function by mediating the effects of follicle-stimulating hormone (FSH), which is secreted by the anterior pituitary gland. FSHR is vital for processes such as folliculogenesis—the growth and maturation of ovarian follicles in females—by activating signaling pathways that encourage cell growth and development.

FUCA1 (Alpha-L-Fucosidase 1): FUCA1 (Alpha-L-Fucosidase 1) is a gene that encodes an enzyme responsible for breaking down fucose, a sugar component found in complex carbohydrates. This enzyme plays a key role in metabolic processes, and deficiencies in FUCA1 can cause fucosidosis, a rare lysosomal storage disorder. Studying FUCA1 helps improve understanding of metabolic pathways and related disorders.

GATA3 (GATA Binding Protein 3) is a transcription factor that regulates the development and differentiation of multiple cell types, including T cells and mammary gland cells. It is essential for proper immune function and breast tissue formation. Mutations in GATA3 can lead to immunodeficiency and breast cancer.

GBP3 (Guanylate Binding Protein 3) is a member of the guanylate-binding protein family that plays a crucial role in the immune system. It is particularly important for defending against intracellular pathogens, including viruses and bacteria. GBP3 also helps regulate inflammatory responses during infections.

GC (Group-Specific Component, also known as Vitamin D Binding Protein): GC, also known as Vitamin D Binding Protein, is a protein that binds and transports vitamin D and its metabolites in the bloodstream. It plays a key role in regulating calcium and phosphate balance, as well as modulating immune and inflammatory responses. Variations in GC can influence vitamin D levels and metabolism, affecting bone health and potentially altering the risk of autoimmune diseases.

GCNT1 (Glucosaminyl (N-Acetyl) Transferase 1): GCNT1 is a gene that encodes an enzyme involved in the biosynthesis of mucins, essential components of mucus. It plays a role in modifying glycoproteins, affecting cell signaling and immune function. Changes in GCNT1 activity have been associated with conditions such as cystic fibrosis and certain types of cancer.

GIPR (Glucose-Dependent Insulinotropic Polypeptide Receptor): GIPR is a gene that encodes the receptor for the hormone GIP, which helps stimulate insulin release after eating. This receptor plays a key role in regulating glucose metabolism and insulin secretion, supporting the body’s response to food intake.

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

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

GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A) is a gene that encodes a subunit of the NMDA receptor, which belongs to the glutamate receptor family. NMDA receptors are crucial for synaptic plasticity, learning, and memory, serving a key role in neuronal communication. Variations in GRIN3A can affect brain function and are of interest in neurological research.

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

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

IGFBP3 (Insulin-Like Growth Factor Binding Protein 3) is a protein that binds to insulin-like growth factors (IGFs), regulating their availability and activity in the body. This control affects cell growth, development, and metabolism. IGFBP3 is extensively studied in cancer research because it can either inhibit or enhance IGF effects depending on the cellular environment, making it a key factor in tumor growth and potential therapeutic strategies.

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

ISCA2 (Iron-Sulfur Cluster Assembly 2): ISCA2 is a protein involved in forming iron-sulfur clusters, which are crucial for proper mitochondrial function and cellular energy production. ISCA2 plays a vital role in maintaining energy metabolism within cells, and mutations in this gene can cause mitochondrial disorders with a range of clinical symptoms.

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

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

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

KNDC1 (Kinase Non-Catalytic C-Lobe Domain Containing 1): KNDC1 is a gene that encodes a protein with kinase-like domains but lacks enzymatic kinase activity. Although its exact functions are not yet fully understood, KNDC1 is believed to be involved in various cellular processes. Ongoing research aims to clarify its role in cell biology and function.

LAX1 (Lymphocyte Transmembrane Adaptor 1): LAX1 is a gene that encodes a transmembrane protein primarily located in lymphocytes. It plays a role in immune cell signaling and activation, helping regulate the development and function of lymphocytes.

MAN1A2 (Mannosidase Alpha Class 1A Member 2): MAN1A2 is an enzyme involved in modifying N-linked oligosaccharides during glycoprotein biosynthesis. It plays a role in protein processing and quality control within the endoplasmic reticulum, helping to ensure proper protein folding and maintain cellular homeostasis.

MST1 (Macrophage Stimulating 1): MST1 is a gene that encodes a protein involved in activating macrophages, which are essential cells of the immune system. It plays a role in inflammation and immune defense and has been associated with the development of autoimmune diseases and certain types of cancer.

MYRIP (Myosin VIIA and Rab Interacting Protein): MYRIP is a gene that encodes a protein involved in the transport and positioning of melanosomes in pigment cells and synaptic vesicles in neurons. It connects actin-based myosin VIIA to Rab proteins, supporting vesicle trafficking essential for pigmentation and synaptic communication.

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

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

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

NSMAF (Neutral Sphingomyelinase Activation-Associated Factor): NSMAF is a gene that encodes a protein involved in regulating sphingomyelinase, an enzyme critical for sphingolipid metabolism. It plays a role in cell signaling, especially in stress responses and the initiation of apoptosis. NSMAF is studied for its potential involvement in inflammation, neurodegeneration, and various disease-related processes.

RNF220 (Ring Finger Protein 220): RNF220 is a protein that belongs to the ring finger family, known for its ring finger domain involved in protein interactions and ubiquitination. It functions as an E3 ubiquitin ligase, playing a crucial role in the ubiquitin-proteasome system responsible for protein degradation and cellular homeostasis. RNF220 helps regulate key cellular processes such as signal transduction, gene expression, and the cell cycle. Disruptions in RNF220 function have been associated with diseases like cancer and neurodegenerative disorders.

SH2B1 (SH2B Adaptor Protein 1): SH2B1 is a gene that encodes an adaptor protein involved in several intracellular signaling pathways, especially those related to insulin and leptin. It plays a crucial role in regulating energy balance, body weight, and glucose metabolism. Variations in SH2B1 have been linked to obesity and insulin resistance.

SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein featuring SH3 and SYLF domains, suggesting a role in protein-protein interactions. Although its exact functions are still being researched, SH3YL1 is believed to participate in cellular signaling pathways and regulate membrane dynamics.

SHLD1 (Shieldin Complex Subunit 1) is a protein that is part of the shieldin complex, which plays a crucial role in DNA repair. It is involved in repairing double-strand breaks through non-homologous end joining, an essential process for maintaining genomic stability and preventing mutations.

SHMT1 (Serine Hydroxymethyltransferase 1): SHMT1 is an enzyme that catalyzes the conversion of serine and tetrahydrofolate into glycine and methylenetetrahydrofolate. This process is essential for nucleotide synthesis and methylation reactions, which support DNA replication and repair. SHMT1 plays a key role in cell growth and genetic stability, and its activity in folate metabolism is linked to cancer risk and neurological disorders.

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

SIRT1 (Sirtuin 1): SIRT1 is a protein that belongs to the sirtuin family and regulates key cellular processes through protein deacetylation. SIRT1 plays a crucial role in promoting longevity and managing aging. It affects gene expression, supports DNA repair, and helps cells respond to stress, making it a vital factor in aging and age-related health issues.

SIVA1 (SIVA1 Apoptosis-Inducing Factor) is a protein involved in regulating programmed cell death, or apoptosis. It plays a role in managing cell survival and death pathways, helping to maintain the balance between healthy cell function and the removal of damaged cells. Research on SIVA1 aims to understand its effects on cell fate and its potential connections to various diseases.

SLC7A1 (Solute Carrier Family 7 Member 1) is a gene that encodes a transporter protein responsible for the uptake of amino acids, particularly arginine and lysine. These amino acids are essential for cell growth, nitric oxide production, and various metabolic processes. SLC7A1 also plays a role in immune regulation and has been associated with certain cancers, making it a significant focus in biomedical research.

SORCS1 (Sortilin-Related VPS10 Domain Containing Receptor 1): SORCS1 is a gene that encodes a receptor involved in protein trafficking and sorting within cells. This receptor plays a key role in regulating receptor signaling and is associated with neural development and synaptic function.

TCF19 (Transcription Factor 19): TCF19 is a gene that encodes a transcription factor involved in regulating the cell cycle. It helps control cell proliferation and may play a role in the cellular response to DNA damage. Changes in TCF19 function have been linked to cancer development, highlighting its importance in cell biology and oncology.

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

VWC2L (von Willebrand Factor C Domain Containing Protein 2 Like): The von Willebrand factor C domain-containing protein 2-like (VWC2L) is a less well-known protein characterized by the presence of a von Willebrand factor C domain—a structural feature commonly associated with extracellular matrix interactions and cell adhesion. It is believed to play a role in tissue development and structural integrity, although its exact function in human health and disease has yet to be fully determined.

WNK1 (WNK Lysine Deficient Protein Kinase 1) is a serine/threonine kinase that plays a crucial role in regulating electrolyte balance and blood pressure. It affects sodium and potassium transport in the kidneys, helping to maintain fluid balance and vascular function. Variants in WNK1 can disrupt this regulation, leading to hereditary hypertension and electrolyte disorders.

XDH, or Xanthine dehydrogenase, is an enzyme that plays a key role in purine metabolism, which involves the breakdown and recycling of purine nucleotides such as adenine and guanine. XDH catalyzes the conversion of hypoxanthine into xanthine and then xanthine into uric acid, the final product of purine degradation in humans. This process is essential for eliminating excess purines from the body, helping regulate levels coming from both diet and cellular turnover.

ZBTB49 (Zinc Finger and BTB Domain Containing 49) is a transcription factor that regulates gene expression by binding to DNA and remodeling chromatin. As a member of the ZBTB family, it plays a role in essential cellular processes such as proliferation, differentiation, and development. While the specific functions of ZBTB49 are not yet fully defined, its involvement in transcriptional regulation indicates that it may influence cell fate decisions and could be significant in cancer and developmental disorders.

ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is part of the zinc finger protein family, recognized for their roles in DNA binding and gene regulation. While its precise function is not completely understood, ZCCHC7 is thought to be involved in processes such as transcriptional regulation, RNA processing, and DNA repair, affecting various cellular activities and possibly playing a role in disease mechanisms.

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

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

ZNF438, also known as Zinc Finger Protein 438, is a member of the zinc finger protein family, characterized by zinc finger domains that enable DNA binding and protein interactions. These proteins play key roles in regulating gene expression, chromatin remodeling, and RNA processing. ZNF438 primarily functions as a transcription factor, binding to specific DNA sequences to control the activity of target genes, often working together with other transcriptional regulators and chromatin modifiers to fine-tune cellular processes.