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

ABCG2

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

DLEU7

ACP1 (Acid Phosphatase 1, Soluble) is a gene that encodes an enzyme involved in multiple cellular processes, including signal transduction and energy metabolism. It exists in several isoforms with distinct roles, influencing immune function and cellular signaling. Variations in ACP1 have been associated with increased susceptibility to certain autoimmune disorders and metabolic conditions.

ACP1

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

ADGRL3

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 contributes to regulating blood clotting and inflammation. Genetic variations in CYP4F2 can affect how the body processes certain medications, particularly anticoagulants.

CYP4F2

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2) is an enzyme that participates in fatty acid and lipid metabolism, including the production of fatty acid epoxides involved in blood pressure regulation and inflammation control. Variants in CYP4V2 are linked to Bietti’s crystalline dystrophy, a rare retinal disorder that can cause progressive vision loss, underscoring its importance in both lipid processing and eye health.

CYP4V2

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

DAAM2

CXCL5 (C-X-C motif chemokine ligand 5) is a signaling protein that helps recruit neutrophils — a type of white blood cell — to areas of inflammation or injury. It plays a key 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 linked to cancer progression, where it can promote tumor growth and metastasis by attracting and activating neutrophils within the tumor environment.

CXCL5

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

DHFR

GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A) is a gene that encodes a subunit of the NMDA receptor, part of the glutamate receptor family. NMDA receptors are essential for synaptic plasticity, learning, and memory, playing a central role in neuronal communication. Variations in GRIN3A can influence brain function and are of interest in neurological research.

GRIN3A

SIVA1 (SIVA1 Apoptosis-Inducing Factor) is a protein involved in regulating programmed cell death, or apoptosis. It plays a role in controlling cell survival and death pathways, helping maintain the balance between healthy cell function and elimination of damaged cells. Research on SIVA1 focuses on understanding its impact on cellular fate and its potential links to various diseases.


SIVA1

FADS2 (Fatty Acid Desaturase 2) is an enzyme that plays a key role in the production of polyunsaturated fatty acids — vital components of cell membranes and precursors to important signaling molecules. Differences in FADS2 activity can influence how the body processes essential fatty acids and are associated with metabolic and inflammatory health outcomes.

FADS2

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

WNK1

B4GALT6 (Beta-1,4-galactosyltransferase 6) is an enzyme that plays a key role in the biosynthesis of glycosaminoglycans (GAGs) — complex carbohydrates found in proteoglycans. Located mainly 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.

B4GALT6

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 linked to the regulation of cell growth and the aging process, though its exact role in human physiology and disease remains not fully defined.

ENOX1

ATP5MK (ATP Synthase Membrane Subunit K) is a component of the mitochondrial ATP synthase complex, essential for producing ATP during cellular respiration. It supports cellular energy metabolism, and impairments in its function can disrupt energy balance, potentially leading to metabolic disorders.

ATP5MK

IGFBP3 (Insulin-Like Growth Factor Binding Protein 3) is a protein that binds to insulin-like growth factors (IGFs), controlling their availability and activity in the body. This regulation influences cell growth, development, and metabolism. IGFBP3 is closely studied in cancer research, as it can either suppress or promote IGF effects depending on the cellular environment, making it a significant factor in tumor growth and potential therapeutic approaches.

IGFBP3

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

CHRNB3

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

SLC7A1

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 main energy currency of cells — and supports mitochondrial integrity, playing a critical role in sustaining overall cellular metabolism.

ATP5PD

EPAS1 (Endothelial PAS Domain Protein 1) is a transcription factor, also known as HIF-2α, 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 linked to high-altitude adaptation and plays a role in certain diseases, including some cancers.

EPAS1

FCRL3 (Fc Receptor-Like 3) is a protein primarily expressed in B cells and is part of the Fc receptor-like (FCRL) family. It plays a role in regulating B cell receptor signaling and antibody production, influencing immune system activity and potentially contributing to autoimmune disease development.

FCRL3

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

CHODL

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.

BLOC1S2

VWC2L (von Willebrand Factor C Domain Containing Protein 2 Like):The von Willebrand factor C domain-containing protein 2-like (VWC2L) is a lesser-known protein characterized by the presence of a von Willebrand factor C domain — a structural feature commonly linked to extracellular matrix interactions and cell adhesion. It is thought to contribute to tissue development and structural integrity, though its precise role in human health and disease is not yet fully understood.

VWC2L

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 like cell proliferation, survival, and differentiation. It interacts with important signaling molecules to modulate growth factor signaling cascades, helping cells respond to external signals such as growth factors and cytokines. Through these actions, EPDR1 influences cell fate decisions and maintains tissue homeostasis.

EPDR1

ACTN3 is a gene that encodes the protein Alpha-actinin-3, which is predominantly found in fast-twitch muscle fibers. These fibers are essential for producing rapid and powerful muscle contractions, key to explosive athletic performance. Variations in the ACTN3 gene, especially the R577X polymorphism, are associated with differences in sprinting ability and endurance, making this gene important in sports genetics.

ACTN3

ZBTB49 (Zinc Finger and BTB Domain Containing 49) is a transcription factor involved in regulating gene expression through DNA binding and chromatin remodeling. As a member of the ZBTB family, it contributes to key cellular processes such as proliferation, differentiation, and development. Although the specific functions of ZBTB49 are not fully understood, its role in transcriptional regulation suggests it may influence cell fate decisions and could have important implications for cancer and developmental disorders.

ZBTB49

BHMT2 (Betaine-Homocysteine S-Methyltransferase 2) is a gene involved in homocysteine metabolism, working similarly to its counterpart, BHMT. It helps convert homocysteine to methionine, a process important for cardiovascular and neurological health. Although less studied than BHMT, BHMT2 influences homocysteine levels in the body, which may affect heart function and neurological conditions. Understanding BHMT2’s role can provide insights into its impact on metabolic pathways and disease risk.

BHMT2

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 associated with a range of neurological and psychiatric conditions.

BDNF

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

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

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

SHLD1

BCO1 (Beta-Carotene Oxygenase 1) is an enzyme that plays a key role in converting beta-carotene into retinal, an active form of vitamin A. Vitamin A is essential for vision, immune health, and cell communication. The activity of BCO1 influences how effectively dietary beta-carotene is transformed into vitamin A, affecting overall vitamin A levels and related health outcomes. Variations in the BCO1 gene can impact an individual’s ability to process beta-carotene and their risk of vitamin A deficiency.

BCO1

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 vital for proper immune function and breast tissue formation. Mutations in GATA3 can contribute to immunodeficiency and breast cancer.

GATA3

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

FSHR

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

B3GALNT1

CHDH (Choline Dehydrogenase) is an important enzyme involved in choline metabolism, converting choline into betaine. This conversion supports the production of acetylcholine, a key neurotransmitter, and helps regulate homocysteine levels, which is important for cardiovascular health. CHDH activity influences choline availability, affecting liver function, brain development, and nervous system health. Studying CHDH can offer valuable insights into nutritional needs and metabolic disorder interventions.

CHDH

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

GBP3

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.

FUCA1

ETS1 (ETS Proto-Oncogene 1, Transcription Factor): ETS1is 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.

ETS1

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.

SHMT1

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, 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 affect development and are linked to conditions like cancer and congenital disorders.

B3GNTL1

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.

ANGPTL4

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 an essential 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.

CHMP3

ESR2 (Estrogen Receptor 2): ESR2 is a gene that encodes one of the two main 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.


ESR2

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 vulnerability to infections.

BACH2

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 key role in metabolizing arachidonic acid and producing leukotrienes, which are important inflammatory mediators. Variations in ALOX5AP have been linked to cardiovascular diseases and asthma.

ALOX5AP

ARL14EP (ADP-ribosylation factor-like protein 14E): ARL14EP is a protein that plays a key role in regulating intracellular vesicle trafficking and membrane dynamics. As part of the ARL protein family, it helps control the movement of vesicles inside cells, impacting processes such as protein secretion, endocytosis, and the organization of organelles. ARL14EP is also involved in cell signaling and cytoskeletal regulation, making it important for overall cellular function. Altered ARL14EP activity or expression has been linked to various diseases, including neurodegenerative disorders, cancer, and metabolic conditions.

ARL14EP

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

BARHL2

CYP4F11 (Cytochrome P450 Family 4 Subfamily F Member 11): CYP4F11 is an enzyme belonging to the cytochrome P450 family. It plays a key role in the oxidation of fatty acids and drug metabolism. CYP4F11’s function in lipid processing and drug detoxification is important for understanding individual variations in drug response and risks for diseases linked to lipid metabolism.

CYP4F11

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

BCL11A

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.

GIPR

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.

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 key role in the ubiquitin-proteasome system responsible for protein degradation and cellular balance. RNF220 helps regulate important cellular activities like signal transduction, gene expression, and the cell cycle. Disruptions in RNF220 function have been linked to diseases such as cancer and neurodegenerative disorders.

RNF220

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 participate in the cellular response to DNA damage. Alterations in TCF19 function have been linked to cancer development, underscoring its significance in cell biology and oncology.

TCF19

GCNT1 (Glucosaminyl (N-Acetyl) Transferase 1): GCNT1 is a gene that encodes an enzyme involved in the biosynthesis of mucins, key components of mucus. It contributes to the modification of glycoproteins, influencing cell signaling and immune function. Altered GCNT1 activity has been linked to conditions such as cystic fibrosis and certain cancers.

GCNT1

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

SH2B1

FCRL6 (Fc Receptor-Like 6): FCRL6 is a gene that encodes a protein expressed on specific T cells and natural killer (NK) cells, where it helps regulate immune responses. It may influence how these cells respond in the context of infection, autoimmune conditions, and cancer. Research on FCRL6 is exploring its potential as a target for therapies aimed at improving immune regulation.

FCRL6

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

APOC4

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 influences processes such as cell cycle progression, cytoskeletal organization, and cell adhesion. It is also linked to immune regulation and oncogenic signaling, with dysregulation potentially contributing to cancer and inflammatory diseases.

BRK1

FMO4 (Flavin Containing Monooxygenase 4): FMO4 is an enzyme belonging to the flavin-containing monooxygenase family. It plays a key role in the detoxification process by catalyzing the oxidation of various compounds, including drugs, xenobiotics, and endogenous molecules. Primarily expressed in the liver, FMO4 helps regulate the metabolism and elimination of substances, which can impact drug effectiveness and toxicity. Ongoing research explores its significance in metabolic pathways and its potential effects on pharmacology and toxicology.

FMO4

LAX1 (Lymphocyte Transmembrane Adaptor 1): LAX1 is a gene that encodes a transmembrane protein primarily found in lymphocytes. It contributes to immune cell signaling and activation, playing a role in regulating the development and function of lymphocytes.

LAX1

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

FAR1

EPB41L4A (Erythrocyte Membrane Protein Band 4.1 Like 4A): EPB41L4A is a gene that encodes a protein important for cytoskeletal organization and membrane stability. This protein helps maintain the structural integrity of cells, particularly red blood cells. Mutations in EPB41L4A can affect red blood cell shape and lead to related disorders.

EPB41L4A

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.

MYRIP

NCK2 (NCK Adaptor Protein 2): NCK2 is a protein that connects receptor tyrosine kinases to signaling pathways controlling cell growth, movement, and cytoskeletal organization. It is involved in multiple signaling networks that help cells respond to external cues. Dysregulation of NCK2 has been linked to cancer progression and metastasis, underscoring its role in cell signaling and tumor development.

NCK2

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

NSMAF

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

GLRB

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

MST1

MAN1A2 (Mannosidase Alpha Class 1A Member 2): MAN1A2 is an enzyme that participates in the modification of N-linked oligosaccharides during glycoprotein biosynthesis. It contributes to protein processing and quality control in the endoplasmic reticulum, helping ensure proper protein folding and maintaining cellular balance.

MAN1A2

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

BIN1 (Bridging Integrator 1): BIN1 is a protein that plays a key role in regulating cellular membrane dynamics. It is involved in important processes like endocytosis and shaping membrane curvature. BIN1 functions as a bridging factor, helping to form membrane tubules that are essential for multiple cellular activities.


BIN1

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


SIK2

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

FGF5

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

ISCA2

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

ZCCHC7

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

SORCS1

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

FBXO8

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

ISL1

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

CCDC167

IFIH1 (Interferon Induced With Helicase C Domain 1): IFIH1, also known as MDA5, is a gene that encodes a protein acting as an intracellular sensor for viral RNA. It plays a key role in innate immunity by detecting viral replication and triggering immune responses. Variations in IFIH1 have been linked to autoimmune conditions such as type I diabetes and systemic lupus erythematosus.

IFIH1

ZFP57 (ZFP57 Zinc Finger Protein): ZFP57 is a KRAB-zinc finger protein that plays a key 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 associated with transient neonatal diabetes and other imprinting disorders, highlighting its importance in epigenetic regulation and developmental processes.

ZFP57

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

CCBE1

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

IRX2

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

NBPF3

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

KNDC1

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

SIRT1 (Sirtuin 1): SIRT1 is a protein that belongs to the sirtuin family, which regulates key cellular processes through protein deacetylation. SIRT1 is especially important for its roles in promoting longevity and managing aging. It influences gene expression, supports DNA repair, and helps cells respond to stress, making it a vital factor in aging and age-related health conditions.

SIRT1

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

AEBP2

HUNK (Hormonally Up-Regulated Neu-Associated Kinase): HUNK is a gene that encodes a protein kinase regulated by hormonal signals. It has been linked to 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 significant role in cancer biology and is being explored as a potential therapeutic target.

HUNK

NDUFA11 (NADH:Ubiquinone Oxidoreductase Subunit A11): NDUFA11 is a gene that encodes a protein 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.

NDUFA11

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. Alterations in its expression or function have been linked to pathological conditions, including cancer.

KCNK2 (Potassium Two Pore Domain Channel Subfamily K Member 2): KCNK2 is a gene that encodes a protein forming part of a potassium channel. This channel helps regulate the electrical activity of 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.

KCNK2

ASIP (Agouti Signaling Protein): ASIP is a protein that influences pigmentation by regulating melanin production in the skin and hair. It acts 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.

ASIP

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

GNB3

UPB1 (Beta-Ureidopropionase 1): UPB1 is an enzyme involved in the breakdown of pyrimidines, which are 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.

UPB1

SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein with SH3 and SYLF domains, indicating a role in protein-protein interactions. While its precise functions remain under study, SH3YL1 is thought to be involved in cellular signaling pathways and the regulation of membrane dynamics.

SH3YL1

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

ZNF365

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.

SIRT1

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