Gene Profiles
This database contains canonical pages for individual genes, including key SNPs, biological roles, and evidence-graded relationships to pathways, biomarkers, disorders, and interventions.
ACE
Angiotensin I Converting Enzyme
ACE plays a central role in blood pressure regulation by converting angiotensin I to the potent v...
View profile arrow_forwardADIPOQ
Adiponectin, C1Q And Collagen Domain Containing
ADIPOQ encodes adiponectin, an insulin-sensitizing hormone secreted exclusively by adipocytes. Hi...
View profile arrow_forwardADRB2
Adrenoceptor Beta 2
ADRB2 encodes the Beta-2 Adrenergic Receptor, the primary mediator of the fight-or-flight respons...
View profile arrow_forwardAGT
Angiotensinogen
AGT encodes angiotensinogen, the sole precursor of all angiotensin peptides in the renin-angioten...
View profile arrow_forwardAGTR1
Angiotensin II Receptor Type 1
AGTR1 is a G protein-coupled receptor that mediates the primary cardiovascular and fibrotic effec...
View profile arrow_forwardAKT1
AKT Serine/Threonine Kinase 1
AKT1 is one of the most frequently hyperactivated kinases in human cancer and a central node link...
View profile arrow_forwardALK
ALK Receptor Tyrosine Kinase
ALK is a specialized receptor tyrosine kinase primarily active during embryonic development that...
View profile arrow_forwardAPC
Adenomatous Polyposis Coli
APC encodes a scaffold protein that forms the beta-catenin destruction complex with Axin, GSK-3be...
View profile arrow_forwardAPOB
Apolipoprotein B
APOB provides the structural scaffold for all atherogenic lipoprotein particles, including LDL an...
View profile arrow_forwardAPOC3
Apolipoprotein C3
APOC3 encodes Apolipoprotein C-III, a major regulator of triglyceride metabolism that inhibits th...
View profile arrow_forwardAPOE
Apolipoprotein E
APOE is the primary genetic determinant of brain health and human longevity, encoding the essenti...
View profile arrow_forwardAPOL1
Apolipoprotein L1
APOL1 is a major determinant of chronic kidney disease risk in individuals of African ancestry. I...
View profile arrow_forwardAPP
Amyloid Precursor Protein
APP encodes the amyloid precursor protein, a transmembrane glycoprotein essential for synaptic re...
View profile arrow_forwardARNTL
Aryl Hydrocarbon Receptor Nuclear Translocator Like
ARNTL, better known as BMAL1, is the master metronome of the human body and the only core clock g...
View profile arrow_forwardATG16L1
Autophagy Related 16 Like 1
ATG16L1 is a master scaffolding protein essential for autophagosome formation. Genetic variants i...
View profile arrow_forwardATG5
Autophagy Related 5
Autophagy Related 5 (ATG5) is a core protein required for the formation and expansion of the auto...
View profile arrow_forwardATG7
Autophagy Related 7
Autophagy Related 7 (ATG7) is the essential E1-like activating enzyme that drives the entire cell...
View profile arrow_forwardATM
ATM Serine/Threonine Kinase
ATM is a massive serine/threonine kinase that serves as the central "air traffic controller" for...
View profile arrow_forwardATR
ATR Serine/Threonine Kinase
ATR is a vital serine/threonine kinase that acts as the primary sensor of replication stress and...
View profile arrow_forwardBAX
BCL2 Associated X, Apoptosis Regulator
BAX is the primary executioner of programmed cell death (apoptosis). It acts by punching holes in...
View profile arrow_forwardBCL11A
B-Cell Lymphoma/Leukemia 11A
BCL11A is the master repressor of fetal hemoglobin (HbF) in adults. By silencing the gamma-globin...
View profile arrow_forwardBCL2
B-Cell Lymphoma 2
BCL2 is the founding member of the Bcl-2 family of apoptosis regulators and acts as the primary "...
View profile arrow_forwardBCL2L1
BCL2 Like 1
BCL2L1 encodes Bcl-xL, a potent anti-apoptotic protein essential for cell survival, especially in...
View profile arrow_forwardBDNF
Brain Derived Neurotrophic Factor
BDNF is the primary "fertilizer" for the brain, essential for the growth, survival, and plasticit...
View profile arrow_forwardBECN1
Beclin 1
Beclin 1 (BECN1) is the central scaffold protein for the initiation of autophagy and a critical t...
View profile arrow_forwardBNIP3
BCL2 Interacting Protein 3
BNIP3 is a master regulator of mitophagy, the process of recycling damaged mitochondria. It is in...
View profile arrow_forwardBNIP3L
BCL2 Interacting Protein 3 Like
BNIP3L, also known as NIX, is a master regulator of mitophagy, essential for the clearance of mit...
View profile arrow_forwardBRAF
B-Raf Proto-Oncogene, Serine/Threonine Kinase
BRAF is a potent serine/threonine kinase that serves as a critical relay in the MAPK growth signa...
View profile arrow_forwardBRCA1
BRCA1 DNA Repair Associated
BRCA1 is a multifunctional tumor suppressor that plays a central role in maintaining genomic stab...
View profile arrow_forwardBRCA2
BRCA2 DNA Repair Associated
BRCA2 is a massive tumor suppressor protein essential for maintaining genomic integrity through i...
View profile arrow_forwardC9orf72
C9orf72-SMCR8 Complex Subunit
C9orf72 repeat expansions are a leading genetic cause of ALS and frontotemporal dementia, linking...
View profile arrow_forwardCAT
Catalase
CAT encodes Catalase, one of the most efficient enzymes in biology, responsible for the rapid dec...
View profile arrow_forwardCCND1
Cyclin D1
CCND1 encodes Cyclin D1, a master regulator of the cell cycle that governs the transition from th...
View profile arrow_forwardCD38
CD38 Molecule
CD38 is a multifunctional ectoenzyme that serves as the primary consumer of NAD+ in aging tissues...
View profile arrow_forwardCDH1
Cadherin 1
CDH1 encodes E-cadherin, a classical cell-cell adhesion molecule essential for maintaining epithe...
View profile arrow_forwardCDKN1A
Cyclin Dependent Kinase Inhibitor 1A
CDKN1A encodes p21, the primary "brake" of the cell cycle and the master effector of p53-mediated...
View profile arrow_forwardCDKN2A
Cyclin Dependent Kinase Inhibitor 2A
CDKN2A is a unique genetic locus that encodes two distinct tumor suppressors, p16INK4a and p14ARF...
View profile arrow_forwardCETP
Cholesteryl Ester Transfer Protein
CETP is a plasma protein that facilitates the exchange of lipids between various lipoproteins. It...
View profile arrow_forwardCFTR
CF Transmembrane Conductance Regulator
CFTR encodes a unique chloride channel essential for maintaining the hydration of mucus across al...
View profile arrow_forwardCISD2
CDGSH Iron Sulfur Domain 2
CISD2 is a master regulator of mitochondrial integrity and calcium homeostasis. It is a definitiv...
View profile arrow_forwardCLOCK
Circadian Locomotor Output Cycles Kaput
CLOCK is a master enzymatic and transcriptional conductor of the circadian rhythm. It regulates 1...
View profile arrow_forwardCLU
Clusterin
CLU (Clusterin) is the cells primary extracellular "garbage collector," a molecular chaperone tha...
View profile arrow_forwardCOL1A1
Collagen Type I Alpha 1 Chain
COL1A1 encodes the pro-alpha1 chain of Type I collagen, the most abundant protein in the human bo...
View profile arrow_forwardCOMT
Catechol-O-Methyltransferase
COMT encodes the primary enzyme responsible for breaking down dopamine in the prefrontal cortex....
View profile arrow_forwardCRY1
Cryptochrome Circadian Regulator 1
CRY1 (Cryptochrome 1) is a master regulator of the circadian clock, functioning as the primary "m...
View profile arrow_forwardCTLA4
Cytotoxic T-Lymphocyte Associated Protein 4
CTLA4 is the primary "off switch" or checkpoint of the adaptive immune system. It is essential fo...
View profile arrow_forwardCTNNB1
Catenin Beta 1
CTNNB1 encodes Beta-catenin, a dual-function protein essential for cell-cell adhesion and canonic...
View profile arrow_forwardCYP27B1
Cytochrome P450 Family 27 Subunit B1
CYP27B1 encodes the 1-alpha-hydroxylase enzyme, the definitive "activator" of Vitamin D. It conve...
View profile arrow_forwardCYP2C19
Cytochrome P450 Family 2 Subunit C19
CYP2C19 is a major drug-metabolizing enzyme, essential for the activation of the antiplatelet dru...
View profile arrow_forwardCYP2C9
Cytochrome P450 Family 2 Subunit C9
CYP2C9 is a major hepatic enzyme responsible for the metabolism of roughly 15% of all clinical dr...
View profile arrow_forwardCYP2D6
Cytochrome P450 Family 2 Subunit D6
CYP2D6 is the "wild card" of human drug metabolism. It is responsible for processing 25% of all c...
View profile arrow_forwardCYP3A4
Cytochrome P450 Family 3 Subunit A4
CYP3A4 is the most important drug-metabolizing enzyme in humans, responsible for processing over...
View profile arrow_forwardDIO2
Iodothyronine Deiodinase 2
DIO2 encodes the Type 2 deiodinase enzyme, the primary "activator" of thyroid hormone inside cell...
View profile arrow_forwardDMD
Dystrophin
DMD encodes Dystrophin, the largest gene in the human genome and the primary structural "shock ab...
View profile arrow_forwardDNM1L
Dynamin 1 Like
DNM1L encodes Drp1, the master molecular "scissors" of mitochondrial fission. It is essential for...
View profile arrow_forwardDNMT1
DNA Methyltransferase 1
DNMT1 is the primary enzyme responsible for maintaining DNA methylation patterns during cell divi...
View profile arrow_forwardDNMT3A
DNA Methyltransferase 3 Alpha
DNMT3A is a master epigenetic regulator responsible for de novo DNA methylation. It is the most f...
View profile arrow_forwardDPYD
Dihydropyrimidine Dehydrogenase
DPYD is the rate-limiting enzyme for the breakdown of pyrimidines and the primary detoxifier of 5...
View profile arrow_forwardDRD2
Dopamine Receptor D2
DRD2 encodes the primary inhibitory dopamine receptor in the brain, central to the reward system,...
View profile arrow_forwardEGFR
Epidermal Growth Factor Receptor
EGFR is a master receptor tyrosine kinase that serves as the "antenna" for cellular growth signal...
View profile arrow_forwardELN
Elastin
ELN encodes Elastin, the primary protein responsible for the elasticity and resilience of many hu...
View profile arrow_forwardEP300
E1A Binding Protein P300
EP300 encodes p300, a master transcriptional co-activator and histone acetyltransferase essential...
View profile arrow_forwardERBB2
Erb-B2 Receptor Tyrosine Kinase 2
ERBB2 (HER2) is a specialized receptor tyrosine kinase that serves as the universal multiplier fo...
View profile arrow_forwardERCC1
ERCC Excision Repair 1
ERCC1 is a vital component of the DNA repair machinery, forming a structure-specific endonuclease...
View profile arrow_forwardEZH2
Enhancer of Zeste 2 Polycomb Repressive Complex 2 Subunit
EZH2 is the catalytic subunit of the Polycomb Repressive Complex 2 (PRC2), responsible for the H3...
View profile arrow_forwardF2
Coagulation Factor II (Prothrombin)
F2 encodes Prothrombin, the precursor to Thrombin, the central enzyme of the blood clotting syste...
View profile arrow_forwardF5
Coagulation Factor V
F5 encodes Factor V, a central accelerator of the blood clotting cascade. The Factor V Leiden var...
View profile arrow_forwardFGF21
Fibroblast Growth Factor 21
FGF21 is a metabolic hormone that acts as a master of nutritional adaptation and longevity. It is...
View profile arrow_forwardFIS1
Fission, Mitochondrial 1
FIS1 is a critical protein anchored in the outer mitochondrial membrane that serves as a primary...
View profile arrow_forwardFLT3
FMS Related Receptor Tyrosine Kinase 3
FLT3 is a critical receptor tyrosine kinase that serves as the "survival switch" for the cells th...
View profile arrow_forwardFMR1
Fragile X Messenger Ribonucleoprotein 1
FMR1 encodes FMRP, a master RNA-binding protein that acts as a "translational brake" at the synap...
View profile arrow_forwardFOXO1
Forkhead Box O1
FOXO1 is a master transcription factor and a central node in metabolic homeostasis and cellular s...
View profile arrow_forwardFOXO3
Forkhead Box O3
FOXO3 is a longevity-associated transcription factor that activates genes for stress resistance,...
View profile arrow_forwardFOXO4
Forkhead Box O4
FOXO4 is a member of the forkhead family of transcription factors that serves as a central regula...
View profile arrow_forwardFOXP3
Forkhead Box P3
FOXP3 is the master transcription factor for Regulatory T-cells (Tregs), the body’s primary peace...
View profile arrow_forwardFTH1
Ferritin Heavy Chain 1
FTH1 encodes the heavy subunit of ferritin, the primary intracellular protein for iron storage an...
View profile arrow_forwardFTO
Fat Mass and Obesity-Associated Protein
FTO is an RNA m6A demethylase that regulates energy homeostasis and adipogenesis by controlling t...
View profile arrow_forwardFUNDC1
FUN14 Domain Containing 1
FUNDC1 is a master regulator of mitophagy, specifically responsible for the removal of damaged mi...
View profile arrow_forwardFUS
FUS RNA Binding Protein
FUS is a multifunctional RNA-binding protein essential for RNA processing and DNA repair. Mutatio...
View profile arrow_forwardFUT2
Fucosyltransferase 2
FUT2 encodes the "Secretor" enzyme, responsible for the presence of ABH blood group antigens in b...
View profile arrow_forwardG6PD
Glucose-6-Phosphate Dehydrogenase
G6PD is the rate-limiting enzyme of the pentose phosphate pathway, essential for the production o...
View profile arrow_forwardGBA
Glucosylceramidase Beta
GBA encodes glucocerebrosidase, a lysosomal enzyme essential for the breakdown of complex lipids....
View profile arrow_forwardGCG
Glucagon
GCG encodes Proglucagon, the precursor to multiple metabolic hormones including Glucagon and GLP-...
View profile arrow_forwardGCK
Glucokinase
GCK encodes Glucokinase (Hexokinase IV), the primary glucose sensor in pancreatic beta cells and...
View profile arrow_forwardGDF11
Growth Differentiation Factor 11
GDF11 is a circulating protein and member of the TGF-beta superfamily that acts as a potent regul...
View profile arrow_forwardGH1
Growth Hormone 1
GH1 encodes Growth Hormone, the primary orchestrator of linear growth, muscle development, and me...
View profile arrow_forwardGHR
Growth Hormone Receptor
GHR is the transmembrane receptor mediating growth hormone signaling through JAK2/STAT5 and PI3K/...
View profile arrow_forwardGLP1R
Glucagon Like Peptide 1 Receptor
GLP1R is a G protein-coupled receptor activated by glucagon-like peptide-1 (GLP-1). It regulates...
View profile arrow_forwardGPX1
Glutathione Peroxidase 1
GPX1 is the primary cellular antioxidant enzyme responsible for neutralizing hydrogen peroxide an...
View profile arrow_forwardGPX4
Glutathione Peroxidase 4
GPX4 is a unique selenoprotein and the master regulator of ferroptosis, an iron-dependent form of...
View profile arrow_forwardGSK3B
Glycogen Synthase Kinase 3 Beta
GSK3B is a highly versatile serine/threonine kinase that sits at the intersection of multiple cri...
View profile arrow_forwardHAMP
Hepcidin Antimicrobial Peptide
HAMP encodes hepcidin, the master hormonal regulator of systemic iron homeostasis in humans. Secr...
View profile arrow_forwardHBB
Hemoglobin Subunit Beta
HBB encodes the beta-globin subunit of adult hemoglobin, the primary oxygen-transport protein in...
View profile arrow_forwardHFE
Homeostatic Iron Regulator
HFE is the primary regulator of iron absorption in humans. Mutations in HFE cause hereditary hemo...
View profile arrow_forwardHMGCR
3-Hydroxy-3-Methylglutaryl-CoA Reductase
HMGCR encodes the rate-limiting enzyme in the mevalonate pathway, responsible for endogenous chol...
View profile arrow_forwardHMGCS2
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2
HMGCS2 is the mitochondrial, rate-limiting enzyme of ketogenesis, responsible for converting acet...
View profile arrow_forwardHRAS
HRas Proto-Oncogene, GTPase
HRAS is a foundational molecular switch that regulates cell growth, division, and survival. Mutat...
View profile arrow_forwardHSD17B13
Hydroxysteroid 17-Beta Dehydrogenase 13
HSD17B13 is a lipid droplet-associated enzyme that acts as a powerful genetic shield against prog...
View profile arrow_forwardHSF1
Heat Shock Transcription Factor 1
HSF1 is the master transcriptional regulator of the heat shock response (HSR) and the primary gua...
View profile arrow_forwardHSP90AA1
Heat Shock Protein 90 Alpha Family Class A Member 1
HSP90AA1 is the primary inducible isoform of the HSP90 molecular chaperone, one of the most abund...
View profile arrow_forwardHSPA1A
Heat Shock Protein Family A Member 1A
HSPA1A (HSP70) is the master molecular chaperone of the cell, serving as the primary "mechanic" f...
View profile arrow_forwardHSPD1
Heat Shock Protein Family D Member 1
HSPD1 encodes the HSP60 protein, a master mitochondrial chaperone essential for the folding and a...
View profile arrow_forwardHTT
Huntingtin
HTT encodes the huntingtin protein, a versatile scaffold critical for neuronal survival, axonal t...
View profile arrow_forwardIDH1
Isocitrate Dehydrogenase (NADP(+)) 1
IDH1 encodes a critical metabolic enzyme that produces alpha-ketoglutarate and NADPH. Mutations i...
View profile arrow_forwardIDH2
Isocitrate Dehydrogenase (NADP(+)) 2
IDH2 is a mitochondrial enzyme essential for the TCA cycle and NADPH production. Mutations in IDH...
View profile arrow_forwardIGF1
Insulin-like Growth Factor 1
IGF-1 is a growth-promoting peptide hormone that activates PI3K/AKT/mTOR signaling to drive anabo...
View profile arrow_forwardIGF1R
Insulin-like Growth Factor 1 Receptor
IGF1R is the transmembrane tyrosine kinase receptor for IGF-1 that activates PI3K/AKT/mTOR and RA...
View profile arrow_forwardIL10
Interleukin 10
IL10 is the master anti-inflammatory cytokine, essential for preventing immune-mediated tissue da...
View profile arrow_forwardIL13
Interleukin 13
IL13 is a key Th2 cytokine that acts as a master driver of the allergic response and mucosal defe...
View profile arrow_forwardIL17A
Interleukin 17A
IL17A is the signature cytokine of the Th17 lineage, acting as a master regulator of barrier infl...
View profile arrow_forwardIL1B
Interleukin 1 Beta
IL1B is a potent pro-inflammatory cytokine that acts as a master driver of the systemic inflammat...
View profile arrow_forwardIL23R
Interleukin 23 Receptor
IL23R is a critical component of the receptor for IL-23, the primary "fuel" for Th17 cell surviva...
View profile arrow_forwardIL6
Interleukin 6
IL6 is the primary cytokine driver of inflammaging, serving as the master switch for the systemic...
View profile arrow_forwardINS
Insulin
INS encodes insulin, the primary anabolic hormone regulating glucose homeostasis, lipid metabolis...
View profile arrow_forwardINSR
Insulin Receptor
INSR encodes the insulin receptor, a receptor tyrosine kinase that binds insulin and initiates th...
View profile arrow_forwardIRS1
Insulin receptor substrate 1
IRS1 is the primary adaptor protein that transmits signals from the insulin and IGF-1 receptors t...
View profile arrow_forwardIRS2
Insulin receptor substrate 2
IRS2 is a critical signaling scaffold that integrates messages from the insulin, IGF-1, and lepti...
View profile arrow_forwardJAK2
Janus Kinase 2
JAK2 is the primary signal relay for the bodys blood-building and growth hormones. As a non-recep...
View profile arrow_forwardKCNJ11
Potassium Inwardly Rectifying Channel Subfamily J Member 11
KCNJ11 encodes the Kir6.2 subunit of the ATP-sensitive potassium channel in pancreatic beta cells...
View profile arrow_forwardKCNQ1
Potassium Voltage-Gated Channel Subunit Alpha 1
KCNQ1 encodes the alpha subunit of the Kv7.1 potassium channel, essential for cardiac repolarizat...
View profile arrow_forwardKIT
KIT Proto-Oncogene, Receptor Tyrosine Kinase
KIT encodes the receptor for Stem Cell Factor (SCF), essential for the survival and development o...
View profile arrow_forwardKL
Klotho
KL encodes Klotho, one of the most potent longevity-associated hormones in human biology. It exis...
View profile arrow_forwardKLB
Klotho Beta
KLB (Klotho Beta) is an essential co-receptor that acts as a "molecular gatekeeper" for the metab...
View profile arrow_forwardKLF4
Kruppel-Like Factor 4
KLF4 is a versatile transcription factor that acts as a bridge between cell growth, differentiati...
View profile arrow_forwardKRAS
KRAS Proto-Oncogene, GTPase
KRAS is a central oncogene and GTPase that acts as a binary switch for cell growth and survival....
View profile arrow_forwardLAMP2
Lysosomal Associated Membrane Protein 2
LAMP2 is the primary gatekeeper of the lysosome, the cells recycling center. It encodes three spe...
View profile arrow_forwardLDLR
Low-Density Lipoprotein Receptor
LDLR encodes the low-density lipoprotein receptor which is responsible for clearing LDL cholester...
View profile arrow_forwardLEP
Leptin
LEP encodes leptin, an adipose-derived hormone that regulates energy balance by inhibiting hunger...
View profile arrow_forwardLEPR
Leptin Receptor
LEPR encodes the receptor for leptin, the master hormone of energy balance and satiety. It is the...
View profile arrow_forwardLMNA
Lamin A/C
LMNA encodes the A-type lamins (Lamin A and C), which form a structural meshwork beneath the inne...
View profile arrow_forwardLPA
Apolipoprotein(a)
LPA encodes apolipoprotein(a), which combines with LDL to form Lipoprotein(a), a highly harmful p...
View profile arrow_forwardLRP5
LDL Receptor Related Protein 5
LRP5 is a critical co-receptor for the Wnt signaling pathway, acting as the primary biological "t...
View profile arrow_forwardLRRK2
Leucine Rich Repeat Kinase 2
LRRK2 is a large multi-domain kinase central to the pathogenesis of Parkinson disease. It regulat...
View profile arrow_forwardMAOA
Monoamine Oxidase A
MAOA is a mitochondrial enzyme responsible for the oxidative deamination of neurotransmitters, in...
View profile arrow_forwardMAPT
Microtubule Associated Protein Tau
MAPT encodes tau, a microtubule-associated protein that stabilizes axonal transport and neuronal...
View profile arrow_forwardMC4R
Melanocortin 4 Receptor
MC4R is the master regulator of the brain’s satiety circuit, acting as the primary biological swi...
View profile arrow_forwardMDM2
MDM2 Proto-Oncogene
MDM2 is the primary negative regulator of the tumor suppressor p53. By marking p53 for destructio...
View profile arrow_forwardMET
MET Proto-Oncogene, Receptor Tyrosine Kinase
MET is a master receptor tyrosine kinase that serves as the "architect" of tissue invasion and re...
View profile arrow_forwardMFF
Mitochondrial Fission Factor
MFF (Mitochondrial Fission Factor) is the primary receptor protein on the outer mitochondrial mem...
View profile arrow_forwardMFN1
Mitofusin 1
MFN1 is a dynamin-like GTPase essential for the fusion of the outer mitochondrial membranes (OMM)...
View profile arrow_forwardMFN2
Mitofusin 2
Mitofusin 2 (MFN2) is a critical outer mitochondrial membrane GTPase that coordinates mitochondri...
View profile arrow_forwardMIEF1
Mitochondrial Elongation Factor 1
MIEF1 (also known as MiD51) is a critical regulator of mitochondrial morphology that acts as a br...
View profile arrow_forwardMIEF2
Mitochondrial Elongation Factor 2
MIEF2 (also known as MiD49) is a key protein in the mitochondrial outer membrane that facilitates...
View profile arrow_forwardMLH1
MutL Homolog 1
MLH1 encodes the dominant subunit of the MutL-alpha mismatch repair complex (MLH1-PMS2), which is...
View profile arrow_forwardMMP9
Matrix Metallopeptidase 9
MMP9 is a zinc-dependent endopeptidase primarily responsible for breaking down Type IV collagen a...
View profile arrow_forwardMSH2
MutS Homolog 2
MSH2 is a master DNA mismatch repair (MMR) gene that maintains genomic stability by correcting re...
View profile arrow_forwardMT-ATP6
Mitochondrially Encoded ATP Synthase Membrane Subunit 6
MT-ATP6 encodes a core subunit of the F0 domain of mitochondrial ATP synthase (Complex V), the mo...
View profile arrow_forwardMT-ATP8
Mitochondrially Encoded ATP Synthase Membrane Subunit 8
MT-ATP8 encodes a small but essential regulatory subunit of the F0 domain of mitochondrial ATP sy...
View profile arrow_forwardMT-CO1
Mitochondrially Encoded Cytochrome C Oxidase I
MT-CO1 encodes cytochrome c oxidase subunit I, the primary catalytic component of mitochondrial C...
View profile arrow_forwardMT-CO2
Mitochondrially Encoded Cytochrome C Oxidase II
MT-CO2 encodes subunit II of Cytochrome c Oxidase (Complex IV), the terminal enzyme of the mitoch...
View profile arrow_forwardMT-CO3
Mitochondrially Encoded Cytochrome C Oxidase III
MT-CO3 encodes subunit III of Cytochrome c Oxidase (Complex IV), the terminal enzyme of the mitoc...
View profile arrow_forwardMT-CYB
Mitochondrially Encoded Cytochrome B
MT-CYB encodes cytochrome b, the only subunit of mitochondrial Complex III (ubiquinol-cytochrome...
View profile arrow_forwardMT-ND1
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1
MT-ND1 encodes the ND1 subunit of Complex I, the first enzyme of the mitochondrial respiratory ch...
View profile arrow_forwardMT-ND2
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2
MT-ND2 encodes the ND2 subunit of Complex I, a major hydrophobic component of the mitochondrial r...
View profile arrow_forwardMT-ND3
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 3
MT-ND3 encodes the ND3 subunit, one of the smallest core components of the mitochondrial Complex...
View profile arrow_forwardMT-ND4
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4
MT-ND4 encodes the ND4 subunit, one of the seven mitochondrial-encoded components of Complex I, t...
View profile arrow_forwardMT-ND4L
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4L
MT-ND4L encodes the ND4L subunit, a small but essential component of the mitochondrial Complex I...
View profile arrow_forwardMT-ND5
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5
MT-ND5 encodes the ND5 subunit, the largest and most distal component of the mitochondrial Comple...
View profile arrow_forwardMT-ND6
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6
MT-ND6 encodes the ND6 subunit, one of the seven core subunits of mitochondrial Complex I. Unique...
View profile arrow_forwardMTHFR
Methylenetetrahydrofolate Reductase
MTHFR is the rate-limiting enzyme in the folate cycle, responsible for converting 5,10-methylenet...
View profile arrow_forwardMTOR
Mechanistic Target of Rapamycin
mTOR is the master nutrient and energy sensor that forms mTORC1 and mTORC2 complexes, integrating...
View profile arrow_forwardMYBPC3
Myosin Binding Protein C3
MYBPC3 encodes the cardiac myosin-binding protein C, which acts as a structural and regulatory co...
View profile arrow_forwardMYC
MYC Proto-Oncogene, BHLH Transcription Factor
MYC is a master transcription factor and global amplifier of gene expression that dictates the in...
View profile arrow_forwardMYH7
Myosin Heavy Chain 7
MYH7 encodes the beta-myosin heavy chain, the primary motor protein of the human heart and slow-t...
View profile arrow_forwardNAMPT
Nicotinamide Phosphoribosyltransferase
NAMPT is the rate-limiting enzyme in the NAD+ salvage pathway, essential for maintaining cellular...
View profile arrow_forwardNANOG
Nanog Homeobox
NANOG is a master transcription factor and a cornerstone of the core pluripotency network, essent...
View profile arrow_forwardNF1
Neurofibromin 1
NF1 encodes neurofibromin, a large RAS GTPase-activating protein (GAP) that accelerates the intri...
View profile arrow_forwardNFE2L2
Nuclear Factor, Erythroid 2 Like 2
NFE2L2 (NRF2) is the master regulator of the cells antioxidant response and detoxification system...
View profile arrow_forwardNFKB1
Nuclear Factor Kappa B Subunit 1
NFKB1 is the master regulator of the cells inflammatory response, encoding both the p105 anchor a...
View profile arrow_forwardNLRP3
NLR Family Pyrin Domain Containing 3
NLRP3 is the core sensor component of the NLRP3 inflammasome, a multi-protein complex of the inna...
View profile arrow_forwardNMRK1
Nicotinamide Riboside Kinase 1
NMRK1 (Nicotinamide Riboside Kinase 1) is an essential enzyme in the NAD+ salvage pathway, respon...
View profile arrow_forwardNOD2
Nucleotide Binding Oligomerization Domain Containing 2
NOD2 is a master intracellular sensor of bacterial invaders. Genetic variants in NOD2 are the str...
View profile arrow_forwardNOS3
Nitric Oxide Synthase 3
NOS3 encodes endothelial nitric oxide synthase (eNOS), the enzyme responsible for producing nitri...
View profile arrow_forwardNOTCH1
Notch Receptor 1
NOTCH1 is a member of a highly conserved family of transmembrane receptors that mediate direct ce...
View profile arrow_forwardNQO1
NAD(P)H Quinone Dehydrogenase 1
NQO1 is a multifunctional antioxidant enzyme and a central node in the cellular response to oxida...
View profile arrow_forwardNRAS
NRAS Proto-Oncogene, GTPase
NRAS is a master molecular switch that coordinates the signals for cellular growth and survival....
View profile arrow_forwardNRF1
Nuclear Respiratory Factor 1
NRF1 is a master transcription factor that orchestrates the expression of key nuclear genes essen...
View profile arrow_forwardOPA1
Optic Atrophy 1 (Mitochondrial Dynamin-Like GTPase)
OPA1 is a dynamin-related GTPase anchored to the inner mitochondrial membrane (IMM), where it pla...
View profile arrow_forwardPALB2
Partner and Localizer of BRCA2
PALB2 is the essential bridge between BRCA1 and BRCA2 in the homologous recombination (HR) DNA re...
View profile arrow_forwardPARK7
Parkinson Protein 7
PARK7 (also known as DJ-1) is a multifunctional protein that acts as a primary sensor and protect...
View profile arrow_forwardPARP1
Poly(ADP-ribose) Polymerase 1
PARP1 is a critical DNA damage sensor that recognizes and binds to single-strand breaks, triggeri...
View profile arrow_forwardPCSK9
Proprotein Convertase Subtilisin/Kexin Type 9
PCSK9 is a critical regulator of cholesterol homeostasis that binds to the LDL receptor and targe...
View profile arrow_forwardPDCD1
Programmed Cell Death 1
PDCD1 (which codes for the PD-1 receptor) is the master "off-switch" for the immune system, desig...
View profile arrow_forwardPER2
Period Circadian Regulator 2
PER2 is a core component of the mammalian circadian clock, acting as a negative regulator of the...
View profile arrow_forwardPIK3CA
Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha
PIK3CA is the catalytic heart of the PI3K signaling pathway, the primary engine driving cellular...
View profile arrow_forwardPINK1
PTEN Induced Kinase 1
PINK1 is a mitochondrial kinase that serves as the primary sensor for organelle damage. It initia...
View profile arrow_forwardPKD1
Polycystin 1, Transient Receptor Potential Channel Interacting
PKD1 encodes Polycystin-1, a large mechanosensor that regulates renal cell growth and architectur...
View profile arrow_forwardPKD2
Polycystin 2, Transient Receptor Potential Cation Channel
PKD2 encodes Polycystin-2, a calcium-permeable channel essential for ciliary and ER calcium signa...
View profile arrow_forwardPNPLA3
Patatin Like Phospholipase Domain Containing 3
PNPLA3 is the strongest genetic determinant of liver fat accumulation. The I148M variant acts as...
View profile arrow_forwardPOLG
DNA Polymerase Gamma, Catalytic Subunit
POLG encodes the catalytic subunit of DNA polymerase gamma, the sole enzyme responsible for repli...
View profile arrow_forwardPOT1
Protection of Telomeres Protein 1
POT1 is a core member of the shelterin complex, a specialized protein shield that protects the en...
View profile arrow_forwardPOU5F1
POU Class 5 Homeobox 1 (Oct4)
POU5F1 (widely known as Oct4) is the master transcription factor of pluripotency, essential for m...
View profile arrow_forwardPPARA
Peroxisome Proliferator Activated Receptor Alpha
PPARA is a nuclear receptor and a master transcriptional regulator of lipid metabolism, ketogenes...
View profile arrow_forwardPPARG
Peroxisome Proliferator Activated Receptor Gamma
PPARG is the master transcriptional regulator of adipocyte differentiation and lipid storage. It...
View profile arrow_forwardPPARGC1A
PPARG Coactivator 1 Alpha
PPARGC1A (PGC-1α) is the master transcriptional coactivator that serves as the central "switchboa...
View profile arrow_forwardPPARGC1B
PPARG Coactivator 1 Beta
PPARGC1B (also known as PGC-1β) is a master coactivator of mitochondrial biogenesis and a central...
View profile arrow_forwardPRKAA1
Protein Kinase AMP-Activated Catalytic Subunit Alpha 1
PRKAA1 encodes the alpha-1 catalytic subunit of AMPK, the master cellular energy sensor activated...
View profile arrow_forwardPRKAA2
Protein Kinase AMP-Activated Catalytic Subunit Alpha 2
PRKAA2 encodes the alpha-2 catalytic subunit of AMPK, predominantly expressed in skeletal muscle...
View profile arrow_forwardPRKN
Parkin RBR E3 Ubiquitin Protein Ligase
PRKN encodes Parkin, an E3 ubiquitin ligase that works with PINK1 to clear damaged mitochondria....
View profile arrow_forwardPSEN1
Presenilin 1
PSEN1 encodes presenilin 1, the catalytic core of the gamma-secretase complex that cleaves APP an...
View profile arrow_forwardPSEN2
Presenilin 2
PSEN2 is one of the two catalytic subunits of the gamma-secretase complex, responsible for the in...
View profile arrow_forwardPTEN
Phosphatase and Tensin Homolog
PTEN is the cells primary metabolic brake, a master tumor suppressor that directly opposes the gr...
View profile arrow_forwardPTPN22
Protein Tyrosine Phosphatase Non-Receptor Type 22
PTPN22 encodes LYP, a critical "brake" on the immune system. The R620W variant is one of the most...
View profile arrow_forwardRAD51
RAD51 Recombinase
RAD51 is a master recombinase and the central protein of the homologous recombination (HR) pathwa...
View profile arrow_forwardRB1
RB Transcriptional Corepressor 1
RB1 encodes the Retinoblastoma protein, the foundational tumor suppressor that acts as the "maste...
View profile arrow_forwardRET
Ret Proto-Oncogene
RET is a bipolar receptor tyrosine kinase that dictates the development of the nervous and renal...
View profile arrow_forwardRICTOR
Rapamycin-Insensitive Companion of mTOR
RICTOR is the defining scaffold protein of the mTORC2 complex, a vital nutrient-sensing hub that...
View profile arrow_forwardRPTOR
Regulatory Associated Protein of mTOR
Raptor is the defining scaffolding subunit of mTORC1 responsible for recruiting substrates S6K1 a...
View profile arrow_forwardSCN1A
Sodium Voltage-Gated Channel Subunit Alpha 1
SCN1A encodes Nav1.1, a primary voltage-gated sodium channel essential for the initiation and pro...
View profile arrow_forwardSCN5A
Sodium Voltage-Gated Channel Alpha Subunit 5
SCN5A encodes the primary sodium channel responsible for the electrical upstroke of the heartbeat...
View profile arrow_forwardSCN9A
Sodium Voltage-Gated Channel Subunit Alpha 9
SCN9A encodes Nav1.7, the master "volume dial" for pain in the human body. Mutations in SCN9A can...
View profile arrow_forwardSERPINA1
Serpin Family A Member 1
SERPINA1 encodes Alpha-1 Antitrypsin (A1AT), the primary protector of lung tissue against neutrop...
View profile arrow_forwardSERPINE1
Serpin Family E Member 1 (PAI-1)
SERPINE1 encodes Plasminogen Activator Inhibitor-1 (PAI-1), the primary physiological inhibitor o...
View profile arrow_forwardSESN1
Sestrin 1
Sestrin 1 is a stress-inducible protein transcriptionally activated by p53 and hypoxia that inhib...
View profile arrow_forwardSESN2
Sestrin 2
Sestrin 2 is a stress-responsive inhibitor of mTORC1 activated by oxidative stress, ER stress, an...
View profile arrow_forwardSIRT1
Sirtuin 1
SIRT1 is an NAD+-dependent deacetylase activated by caloric restriction and NAD+ precursors that...
View profile arrow_forwardSIRT2
Sirtuin 2
SIRT2 is a predominantly cytoplasmic, NAD+-dependent deacetylase and a member of the sirtuin fami...
View profile arrow_forwardSIRT3
Sirtuin 3
SIRT3 is the primary mitochondrial NAD+-dependent deacetylase and a master regulator of mitochond...
View profile arrow_forwardSIRT4
Sirtuin 4
SIRT4 is a mitochondrial sirtuin that functions primarily as an ADP-ribosyltransferase and a lipo...
View profile arrow_forwardSIRT5
Sirtuin 5
SIRT5 is a mitochondrial NAD+-dependent enzyme that uniquely functions as a desuccinylase, demalo...
View profile arrow_forwardSIRT6
Sirtuin 6
SIRT6 is an NAD+-dependent deacetylase and ADP-ribosyltransferase that maintains telomere stabili...
View profile arrow_forwardSIRT7
Sirtuin 7
SIRT7 is an NAD+-dependent deacetylase primarily localized to the nucleolus, where it acts as a m...
View profile arrow_forwardSLC6A4
Solute Carrier Family 6 Member 4
SLC6A4 encodes the serotonin transporter (SERT), the primary regulator of serotonin levels at the...
View profile arrow_forwardSMAD4
SMAD Family Member 4
SMAD4 is the central Co-SMAD in the TGF-beta signaling pathway, essential for transmitting signal...
View profile arrow_forwardSMN1
Survival of Motor Neuron 1
SMN1 is the primary gene responsible for the production of the Survival Motor Neuron (SMN) protei...
View profile arrow_forwardSNCA
Synuclein Alpha
SNCA encodes alpha-synuclein, a presynaptic protein involved in vesicle trafficking and dopamine...
View profile arrow_forwardSOD1
Superoxide Dismutase 1
SOD1 encodes a cytosolic antioxidant enzyme that converts superoxide radicals into hydrogen perox...
View profile arrow_forwardSOD2
Superoxide Dismutase 2, Mitochondrial
SOD2 is the primary antioxidant enzyme located within the mitochondrial matrix, responsible for c...
View profile arrow_forwardSOX2
SRY-Box Transcription Factor 2
SOX2 is a master transcription factor and a defining member of the core pluripotency network, ess...
View profile arrow_forwardSQSTM1
Sequestosome 1
SQSTM1 (p62) is a multifunctional scaffold protein that acts as the primary receptor for selectiv...
View profile arrow_forwardSTAT3
Signal Transducer and Activator of Transcription 3
STAT3 is a master transcription factor that acts as a central hub for integrating signals from va...
View profile arrow_forwardSTK11
Serine/Threonine Kinase 11
STK11 (LKB1) is a master kinase that directly phosphorylates and activates AMPK in response to en...
View profile arrow_forwardTARDBP
TAR DNA Binding Protein
TARDBP encodes TDP-43, a nuclear RNA-binding protein that regulates splicing and RNA stability ac...
View profile arrow_forwardTCF7L2
Transcription Factor 7 Like 2
TCF7L2 is the strongest common genetic risk factor for Type 2 Diabetes. As the primary nuclear ef...
View profile arrow_forwardTERC
Telomerase RNA Component
TERC is the essential non-coding RNA component of the telomerase enzyme, providing the physical t...
View profile arrow_forwardTERF2
Telomeric Repeat-Binding Factor 2
TERF2 (also known as TRF2) is a core component of the shelterin complex, a specialized protein sh...
View profile arrow_forwardTERT
Telomerase Reverse Transcriptase
TERT is the catalytic subunit of the telomerase enzyme, responsible for maintaining chromosome en...
View profile arrow_forwardTET2
Tet Methylcytosine Dioxygenase 2
TET2 is a master epigenetic "eraser" that catalyzes the conversion of 5-mC to 5-hmC, initiating D...
View profile arrow_forwardTFAM
Transcription Factor A, Mitochondrial
TFAM is the master architect and regulator of the mitochondrial genome. Encoded in the nucleus an...
View profile arrow_forwardTGFB1
Transforming Growth Factor Beta 1
TGFB1 is the master regulator of the fibrotic response, coordinating extracellular matrix product...
View profile arrow_forwardTM6SF2
Transmembrane 6 Superfamily Member 2
TM6SF2 is a key regulator of hepatic VLDL secretion. The E167K variant creates a famous metabolic...
View profile arrow_forwardTNF
Tumor Necrosis Factor
TNF (Tumor Necrosis Factor) is the master regulator of the cells inflammatory hierarchy, acting a...
View profile arrow_forwardTNFSF11
TNF Superfamily Member 11
TNFSF11 encodes RANKL, the master signal that triggers bone destruction. It is the definitive reg...
View profile arrow_forwardTP53
Tumor Protein P53
TP53 encodes the p53 protein, famously known as the "Guardian of the Genome." It is a master tran...
View profile arrow_forwardTPMT
Thiopurine S-Methyltransferase
TPMT is a critical enzyme responsible for the metabolism of thiopurine drugs, including azathiopr...
View profile arrow_forwardTPO
Thyroid Peroxidase
TPO is the essential enzyme for the production of thyroid hormones. It catalyzes the iodination o...
View profile arrow_forwardTREM2
Triggering Receptor Expressed on Myeloid Cells 2
TREM2 is a transmembrane receptor primarily expressed on microglia in the central nervous system,...
View profile arrow_forwardTSC1
Tuberous Sclerosis Complex 1
TSC1 (hamartin) forms the TSC1-TSC2 tumor suppressor complex that acts as a GTPase-activating pro...
View profile arrow_forwardTSC2
Tuberous Sclerosis Complex 2
TSC2 (tuberin) is the catalytic GAP subunit of the TSC1-TSC2 complex that inhibits Rheb and there...
View profile arrow_forwardTSHR
Thyroid Stimulating Hormone Receptor
TSHR is the primary regulator of thyroid function, acting as the molecular antenna for TSH to con...
View profile arrow_forwardTTN
Titin
TTN encodes Titin, the largest protein in the human body and the master "spring" of the heart and...
View profile arrow_forwardTXN
Thioredoxin
TXN encodes thioredoxin-1, a small but essential redox protein that acts as a master antioxidant...
View profile arrow_forwardUBB
Ubiquitin B
UBB is one of the primary genes encoding ubiquitin, the universal "trash tag" that identifies pro...
View profile arrow_forwardUBC
Ubiquitin C
UBC is the primary stress-inducible gene for ubiquitin, the universal "tag" for cellular waste. B...
View profile arrow_forwardULK1
Unc-51 Like Autophagy Activating Kinase 1
ULK1 is the initiating kinase of the autophagy cascade, activated by AMPK and inhibited by mTORC1...
View profile arrow_forwardVDR
Vitamin D Receptor
VDR is the nuclear receptor that mediates the diverse biological effects of Vitamin D. It is a ma...
View profile arrow_forwardVEGFA
Vascular Endothelial Growth Factor A
VEGFA is the master regulator of angiogenesis—the physiological process through which new blood v...
View profile arrow_forwardVHL
Von Hippel-Lindau Tumor Suppressor
VHL is the primary oxygen-sensing switch of the human body, acting as the "eyes" that allow cells...
View profile arrow_forwardVKORC1
Vitamin K Epoxide Reductase Complex Subunit 1
VKORC1 is the essential enzyme for recycling Vitamin K, a process required for the activation of...
View profile arrow_forwardWRN
Werner Syndrome RecQ Like Helicase
WRN is a unique RecQ family enzyme featuring dual helicase and exonuclease activities, essential...
View profile arrow_forwardXRCC1
X-ray repair cross-complementing protein 1
XRCC1 is a vital molecular scaffold protein and a central coordinator of the base excision repair...
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