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 is a zinc-dependent enzyme that clips 2 amino acids off a 10-amino-acid hormone called angiot...
View profile arrow_forwardADIPOQ
Adiponectin, C1Q And Collagen Domain Containing
ADIPOQ encodes adiponectin, a hormone that fat cells release in larger amounts as body fat drops,...
View profile arrow_forwardADRB2
Adrenoceptor Beta 2
ADRB2 encodes the beta-2 adrenergic receptor, which relaxes airway and blood vessel smooth muscle...
View profile arrow_forwardAGT
Angiotensinogen
AGT encodes angiotensinogen, the liver-made precursor whose first 10 amino acids renin clips away...
View profile arrow_forwardAGTR1
Angiotensin II Receptor Type 1
AGTR1 encodes the AT1 receptor, the docking site for angiotensin II, an 8-amino-acid hormone that...
View profile arrow_forwardAHR
Aryl Hydrocarbon Receptor
Every day, chemicals from cigarette smoke, charred food, and industrial pollution enter the body,...
View profile arrow_forwardAKT1
AKT Serine/Threonine Kinase 1
Few signaling proteins sit more directly at the intersection of growth, cancer, and aging than AK...
View profile arrow_forwardALK
ALK Receptor Tyrosine Kinase
ALK encodes a receptor tyrosine kinase that stays dormant in most tissues until a chromosomal rea...
View profile arrow_forwardAPC
Adenomatous Polyposis Coli
APC is the brake pedal on the colon's fastest-dividing cells, the scaffold that continuously dest...
View profile arrow_forwardAPOB
Apolipoprotein B
APOB encodes apolipoprotein B, the structural protein that wraps every LDL, VLDL, and chylomicron...
View profile arrow_forwardAPOC3
Apolipoprotein C3
APOC3 encodes a small protein that acts as a brake on lipoprotein lipase, the enzyme that clears...
View profile arrow_forwardAPOE
Apolipoprotein E
APOE controls how cholesterol and other fats move through the bloodstream and brain, and it comes...
View profile arrow_forwardAPOL1
Apolipoprotein L1
APOL1 protects against African sleeping sickness by punching pores in the trypanosome parasite th...
View profile arrow_forwardAPP
Amyloid Precursor Protein
APP sits at a fork in the road. Beyond its role in Alzheimer's disease, the healthy protein helps...
View profile arrow_forwardAQP3
Aquaporin 3
Every cell needs water, and many rely on glycerol too, a molecule the AQP3 channel carries across...
View profile arrow_forwardARNTL
Aryl Hydrocarbon Receptor Nuclear Translocator Like
BMAL1, the protein encoded by ARNTL, works as the master gear of the body's circadian clock. It i...
View profile arrow_forwardATG16L1
Autophagy Related 16 Like 1
ATG16L1 builds the scaffolding that assembles the autophagosome, the double-membraned sac cells u...
View profile arrow_forwardATG5
Autophagy Related 5
A cell's quality-control system tags damaged mitochondria and misfolded proteins for disposal, an...
View profile arrow_forwardATG7
Autophagy Related 7
ATG7 acts as the master switch that starts autophagy, the cell's process for recycling damaged pa...
View profile arrow_forwardATM
ATM Serine/Threonine Kinase
ATM functions as the cell's chief damage inspector, standing guard over the genome as an inactive...
View profile arrow_forwardATR
ATR Serine/Threonine Kinase
ATR acts as the cell's fork monitor, patrolling replication forks for exposed single strands of D...
View profile arrow_forwardBAX
BCL2 Associated X, Apoptosis Regulator
BAX functions as the cell's self-destruct trigger, sitting dormant in the cytoplasm until a death...
View profile arrow_forwardBCL11A
B-Cell Lymphoma/Leukemia 11A
After birth, a molecular switch silences fetal hemoglobin and forces red blood cells to rely on t...
View profile arrow_forwardBCL2
B-Cell Lymphoma 2
A cell carries its own self-destruct switch, and BCL2 is the brake that keeps it locked. It binds...
View profile arrow_forwardBCL2L1
BCL2 Like 1
Bcl-xL, encoded by BCL2L1, works as a molecular shield that keeps mitochondria sealed and blocks...
View profile arrow_forwardBDNF
Brain Derived Neurotrophic Factor
Exercise, learning, and social connection share one trick: they raise levels of BDNF, the protein...
View profile arrow_forwardBECN1
Beclin 1
Inside every cell, worn-out parts build up unless autophagy clears them away, and Beclin-1 is the...
View profile arrow_forwardBNIP3
BCL2 Interacting Protein 3
Mitochondria keep cells running, but a damaged one turns dangerous, and BNIP3 is the sensor that...
View profile arrow_forwardBNIP3L
BCL2 Interacting Protein 3 Like
When red blood cells mature, they destroy their own power plants, and BNIP3L, also called NIX, is...
View profile arrow_forwardBRAF
B-Raf Proto-Oncogene, Serine/Threonine Kinase
A cell's growth signal normally flows through BRAF like a relay switch, telling it when to divide...
View profile arrow_forwardBRCA1
BRCA1 DNA Repair Associated
BRCA1 is a genome guardian, a tumor-suppressor gene that repairs broken DNA before it can turn ca...
View profile arrow_forwardBRCA2
BRCA2 DNA Repair Associated
BRCA2 works as a molecular matchmaker for DNA repair. It guides the RAD51 protein onto broken DNA...
View profile arrow_forwardC9orf72
C9orf72-SMCR8 Complex Subunit
A stretch of DNA normally repeated fewer than 30 times can expand to hundreds or thousands of cop...
View profile arrow_forwardCAT
Catalase
Hydrogen peroxide forms constantly inside cells as a natural byproduct of metabolism. Catalase is...
View profile arrow_forwardCCND1
Cyclin D1
Every time a cell divides, it needs a signal to release the brake on the cell cycle, and cyclin D...
View profile arrow_forwardCD38
CD38 Molecule
NAD+ is a molecule every cell needs to burn fuel and repair DNA. CD38 is the enzyme that drains i...
View profile arrow_forwardCDH1
Cadherin 1
CDH1 carries the instructions for E-cadherin, the protein that acts as molecular glue holding epi...
View profile arrow_forwardCDKN1A
Cyclin Dependent Kinase Inhibitor 1A
CDKN1A encodes p21, a molecular brake that halts the cell cycle the moment DNA damage is detected...
View profile arrow_forwardCDKN2A
Cyclin Dependent Kinase Inhibitor 2A
CDKN2A is one gene that builds two different guardian proteins by reading its own DNA in two diff...
View profile arrow_forwardCETP
Cholesteryl Ester Transfer Protein
CETP encodes a lipid ferry protein that shuttles cholesterol out of HDL particles in exchange for...
View profile arrow_forwardCFTR
CF Transmembrane Conductance Regulator
CFTR builds a channel that pumps chloride ions across cell membranes, and water follows to keep t...
View profile arrow_forwardCISD2
CDGSH Iron Sulfur Domain 2
CISD2 makes a small iron-sulfur protein that anchors mitochondria to the endoplasmic reticulum, k...
View profile arrow_forwardCLOCK
Circadian Locomotor Output Cycles Kaput
A single gene sets the pace for nearly every cell in the body, pairing with the protein BMAL1 to...
View profile arrow_forwardCLU
Clusterin
CLU encodes clusterin, a chaperone protein that patrols the bloodstream and brain, catching misfo...
View profile arrow_forwardCOL1A1
Collagen Type I Alpha 1 Chain
COL1A1 provides the blueprint for type I collagen, the structural protein that makes up about 90...
View profile arrow_forwardCOL1A2
Collagen Type I Alpha 2 Chain
Every strand of type I collagen needs 1 alpha2 chain from COL1A2 alongside 2 alpha1 chains from a...
View profile arrow_forwardCOL3A1
Collagen Type III Alpha 1 Chain
COL3A1 carries instructions for type III collagen, a flexible protein that reinforces artery wall...
View profile arrow_forwardCOMT
Catechol-O-Methyltransferase
COMT makes an enzyme that clears dopamine out of the prefrontal cortex, the brain region responsi...
View profile arrow_forwardCRY1
Cryptochrome Circadian Regulator 1
Every cell relies on CRY1 as the molecular brake in its circadian clock, silencing the clock's ow...
View profile arrow_forwardCTLA4
Cytotoxic T-Lymphocyte Associated Protein 4
Activated T cells display CTLA4 as a brake, dampening the immune response before it spirals into...
View profile arrow_forwardCTNNB1
Catenin Beta 1
Beta-catenin, the protein CTNNB1 encodes, leads a double life: it glues neighboring cells togethe...
View profile arrow_forwardCYP27B1
Cytochrome P450 Family 27 Subunit B1
CYP27B1 encodes the enzyme that performs the final, decisive step in activating vitamin D. It con...
View profile arrow_forwardCYP2C19
Cytochrome P450 Family 2 Subunit C19
CYP2C19 encodes a liver enzyme that activates or clears a wide range of common medications, most...
View profile arrow_forwardCYP2C9
Cytochrome P450 Family 2 Subunit C9
CYP2C9 encodes the liver enzyme primarily responsible for clearing warfarin, the widely used bloo...
View profile arrow_forwardCYP2D6
Cytochrome P450 Family 2 Subunit D6
CYP2D6 encodes a highly variable liver enzyme that processes roughly 25 percent of all prescripti...
View profile arrow_forwardCYP3A4
Cytochrome P450 Family 3 Subunit A4
CYP3A4 encodes the single most important drug-metabolizing enzyme in the body, responsible for br...
View profile arrow_forwardDCT
Dopachrome Tautomerase (Tyrosinase Related Protein 2)
Pigment cells rely on a single enzyme to keep melanin production from turning toxic. DCT is 1 of...
View profile arrow_forwardDIO2
Iodothyronine Deiodinase 2
DIO2 lets the body activate thyroid hormone right where it is needed. The enzyme converts T4, the...
View profile arrow_forwardDMD
Dystrophin
Muscle fibers need a shock absorber to survive a lifetime of contraction, and DMD is the gene tha...
View profile arrow_forwardDNM1L
Dynamin 1 Like
Mitochondria constantly split and merge, and DNM1L supplies the molecular scissors for the split...
View profile arrow_forwardDNMT1
DNA Methyltransferase 1
Every time a cell divides, it must copy not just its DNA but the chemical notes written on top of...
View profile arrow_forwardDNMT3A
DNA Methyltransferase 3 Alpha
DNMT3A works as a molecular architect, laying down new DNA methylation marks that guide how blood...
View profile arrow_forwardDPYD
Dihydropyrimidine Dehydrogenase
DPYD carries the blueprint for dihydropyrimidine dehydrogenase, the enzyme responsible for breaki...
View profile arrow_forwardDRD2
Dopamine Receptor D2
DRD2 builds the dopamine D2 receptor, the brake that keeps the brain's reward circuit from firing...
View profile arrow_forwardEGFR
Epidermal Growth Factor Receptor
A single receptor on the surface of cells acts as a growth switch, and EGFR is the gene that buil...
View profile arrow_forwardELN
Elastin
ELN builds elastin, the stretchy fiber that lets arteries, lungs, and skin snap back into shape a...
View profile arrow_forwardEP300
E1A Binding Protein P300
EP300 encodes p300, an enzyme that attaches acetyl tags to histones and hundreds of other protein...
View profile arrow_forwardERBB2
Erb-B2 Receptor Tyrosine Kinase 2
HER2 acts like a volume dial stuck on high, a growth receptor that some tumors hijack to multiply...
View profile arrow_forwardERCC1
ERCC Excision Repair 1
ERCC1 builds half of a pair of molecular scissors that cuts damaged DNA out of the genome, a repa...
View profile arrow_forwardEZH2
Enhancer of Zeste 2 Polycomb Repressive Complex 2 Subunit
EZH2 works like a molecular locksmith, adding a chemical tag to lysine 27 on histone H3 that lock...
View profile arrow_forwardF2
Coagulation Factor II (Prothrombin)
F2 carries the blueprint for prothrombin, the inactive precursor that becomes thrombin, the enzym...
View profile arrow_forwardF5
Coagulation Factor V
Factor V acts as a turbo booster in the clotting cascade, dramatically speeding up how fast throm...
View profile arrow_forwardFGF21
Fibroblast Growth Factor 21
FGF21 works like a metabolic thermostat, a liver hormone released during fasting, low-protein eat...
View profile arrow_forwardFIS1
Fission, Mitochondrial 1
Mitochondria constantly split and merge, and FIS1 anchors on their outer membrane as 1 of 2 prima...
View profile arrow_forwardFLG
Filaggrin
Filaggrin acts as skin's structural rebar early on and its built-in moisturizer later. The FLG ge...
View profile arrow_forwardFLT3
FMS Related Receptor Tyrosine Kinase 3
FLT3 builds a receptor on blood stem cells that normally responds to a growth signal, telling the...
View profile arrow_forwardFMR1
Fragile X Messenger Ribonucleoprotein 1
FMR1 carries an unusual stretch of DNA, a repeating CGG sequence that normally stays under 45 cop...
View profile arrow_forwardFOXO1
Forkhead Box O1
Insulin activates AKT, which phosphorylates FOXO1 at 3 separate sites and forces it out of the ce...
View profile arrow_forwardFOXO3
Forkhead Box O3
A single FOXO3 variant, rs2802292, shows up more often in centenarians across nearly every popula...
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 converts an ordinary T cell into a regulatory T cell, part of the roughly 5 to 10 percent o...
View profile arrow_forwardFTH1
Ferritin Heavy Chain 1
FTH1 helps build ferritin, the 24-subunit protein shell that can lock away as many as 4500 iron a...
View profile arrow_forwardFTO
Fat Mass and Obesity-Associated Protein
FTO carries the strongest, most reproducible link to body weight found in the human genome. The c...
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 works as the cell's RNA librarian, binding thousands of messenger RNAs to control their splic...
View profile arrow_forwardFUT2
Fucosyltransferase 2
One gene switch decides whether blood-type sugars appear only on red blood cells or also in saliv...
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 carries the instructions for glucocerebrosidase, an enzyme that breaks down fatty molecules i...
View profile arrow_forwardGCG
Glucagon
A single gene, GCG, produces one raw protein that becomes two opposite hormones depending on wher...
View profile arrow_forwardGCK
Glucokinase
The pancreas decides when to release insulin using a built-in thermostat, an enzyme called glucok...
View profile arrow_forwardGDF11
Growth Differentiation Factor 11
GDF11 codes for a signaling protein that ignited excitement about reversing aging. In 2013, parab...
View profile arrow_forwardGH1
Growth Hormone 1
GH1 builds growth hormone, the pituitary signal that acts as the body's master builder, directing...
View profile arrow_forwardGHR
Growth Hormone Receptor
GHR builds the docking site on cell surfaces where growth hormone attaches, triggering the JAK-ST...
View profile arrow_forwardGLP1R
Glucagon Like Peptide 1 Receptor
GLP1R encodes the receptor that turns one gut hormone into a major drug target in modern medicine...
View profile arrow_forwardGPX1
Glutathione Peroxidase 1
GPX1 builds glutathione peroxidase 1, the cell's primary defense against hydrogen peroxide and ot...
View profile arrow_forwardGPX4
Glutathione Peroxidase 4
GPX4 builds the one enzyme, among roughly 25 human selenoproteins, that repairs damaged fats dire...
View profile arrow_forwardGSK3B
Glycogen Synthase Kinase 3 Beta
GSK3B builds one of 2 GSK3 isoforms, an enzyme that spends most of its time braking other protein...
View profile arrow_forwardHAMP
Hepcidin Antimicrobial Peptide
HAMP carries the instructions for hepcidin, the master hormone that decides how much iron enters...
View profile arrow_forwardHAS2
Hyaluronan Synthase 2
HAS2 builds hyaluronan, a sugar-based molecule that can hold 1,000 times its own weight in water...
View profile arrow_forwardHBB
Hemoglobin Subunit Beta
HBB carries the blueprint for beta-globin, one of 4 protein chains that link together to form hem...
View profile arrow_forwardHFE
Homeostatic Iron Regulator
HFE helps cells gauge how much iron the body is carrying and, through that reading, sets the leve...
View profile arrow_forwardHMGCR
3-Hydroxy-3-Methylglutaryl-CoA Reductase
HMGCR builds the enzyme that controls the slowest step in making cholesterol, the bottleneck that...
View profile arrow_forwardHMGCS2
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2
HMGCS2 is the mitochondrial enzyme that commits the liver to burning fat for fuel. During fasting...
View profile arrow_forwardHRAS
HRas Proto-Oncogene, GTPase
HRAS is a small GTPase that works as a molecular switch inside nearly every cell. It flips betwee...
View profile arrow_forwardHSD17B13
Hydroxysteroid 17-Beta Dehydrogenase 13
HSD17B13 is a liver-specific enzyme that coats the surface of lipid droplets inside hepatocytes,...
View profile arrow_forwardHSF1
Heat Shock Transcription Factor 1
HSF1 is the master switch that senses cellular stress and mobilizes the protein repair machinery....
View profile arrow_forwardHSP90AA1
Heat Shock Protein 90 Alpha Family Class A Member 1
HSP90AA1 encodes a molecular chaperone that clamps onto partially folded proteins and uses ATP to...
View profile arrow_forwardHSPA1A
Heat Shock Protein Family A Member 1A
Cells under stress rely on HSPA1A to keep proteins from clumping into toxic aggregates. This gene...
View profile arrow_forwardHSPD1
Heat Shock Protein Family D Member 1
Mitochondria import most of their proteins unfolded, and HSPD1 is the workhorse that folds them b...
View profile arrow_forwardHTT
Huntingtin
Every neuron depends on HTT to keep its internal transport running, hauling vesicles, mitochondri...
View profile arrow_forwardIDH1
Isocitrate Dehydrogenase (NADP(+)) 1
IDH1 makes an enzyme that converts isocitrate into α-ketoglutarate, generating NADPH, the fuel ce...
View profile arrow_forwardIDH2
Isocitrate Dehydrogenase (NADP(+)) 2
Deep inside mitochondria, IDH2 runs a reaction that mirrors its cytosolic twin IDH1, feeding the...
View profile arrow_forwardIGF1
Insulin-like Growth Factor 1
IGF1 encodes insulin-like growth factor 1, the hormone that carries growth hormone's signal from...
View profile arrow_forwardIGF1R
Insulin-like Growth Factor 1 Receptor
When insulin-like growth factor 1 reaches a cell, IGF1R is the docking site that fires its growth...
View profile arrow_forwardIL10
Interleukin 10
IL10 codes for interleukin 10, the cytokine that tells the immune system when a fight is over. Pr...
View profile arrow_forwardIL13
Interleukin 13
IL13 is the cytokine most directly responsible for the wheezing and mucus of an asthma attack. Re...
View profile arrow_forwardIL17A
Interleukin 17A
IL17A is the cytokine that mans the front line where skin and gut tissue meet the outside world....
View profile arrow_forwardIL1B
Interleukin 1 Beta
IL1B encodes interleukin 1 beta, one of the immune system's fastest alarm signals. A sensor compl...
View profile arrow_forwardIL23R
Interleukin 23 Receptor
IL23R sits on immune cells and receives the signal that turns naive T cells into Th17 cells. This...
View profile arrow_forwardIL6
Interleukin 6
IL6 encodes interleukin 6, a cytokine with two opposite faces depending on which receptor it enga...
View profile arrow_forwardINS
Insulin
Pancreatic beta cells rely on INS to build insulin, the hormone that clears sugar from the blood...
View profile arrow_forwardINSR
Insulin Receptor
INSR encodes the insulin receptor, a tyrosine kinase that spans the cell membrane and fires two d...
View profile arrow_forwardIRS1
Insulin receptor substrate 1
IRS1 sits at a chokepoint where insulin and insulin-like growth factor signals must pass on their...
View profile arrow_forwardIRS2
Insulin receptor substrate 2
Insulin receptor substrate 2 acts as a molecular relay, converting signals from the insulin, IGF-...
View profile arrow_forwardJAK2
Janus Kinase 2
JAK2 encodes a signaling enzyme that acts as the direct line between hormone receptors on the cel...
View profile arrow_forwardKCNJ11
Potassium Inwardly Rectifying Channel Subfamily J Member 11
KCNJ11 builds Kir6.2, the pore forming half of a potassium channel that lets pancreatic beta cell...
View profile arrow_forwardKCNQ1
Potassium Voltage-Gated Channel Subunit Alpha 1
KCNQ1 builds a potassium channel subunit that generates the electrical current, called IKs, which...
View profile arrow_forwardKEAP1
Kelch Like ECH Associated Protein 1
KEAP1 works as a molecular off switch, continuously tagging the antioxidant regulator NRF2 for de...
View profile arrow_forwardKIT
KIT Proto-Oncogene, Receptor Tyrosine Kinase
KIT acts as a survival switch that stem cells cannot do without, telling mast cells, blood-formin...
View profile arrow_forwardKL
Klotho
Klotho is often called the body's anti-aging hormone. It exists in two forms, a membrane-bound re...
View profile arrow_forwardKLB
Klotho Beta
KLB encodes a protein that acts as molecular velcro, letting the metabolic hormones FGF19 and FGF...
View profile arrow_forwardKLF4
Kruppel-Like Factor 4
KLF4 is one of 4 Yamanaka factors, the ingredients scientists use to reprogram an adult cell back...
View profile arrow_forwardKRAS
KRAS Proto-Oncogene, GTPase
KRAS works as a molecular switch that flips proliferation signals on and off inside every cell, c...
View profile arrow_forwardKRT1
Keratin 1
Skin cells stay tough because of a scaffold built from keratin 1 paired with keratin 10, forming...
View profile arrow_forwardLAMP2
Lysosomal Associated Membrane Protein 2
Lysosomes rely on LAMP2 to clear out worn cellular machinery, and the gene builds three separate...
View profile arrow_forwardLDLR
Low-Density Lipoprotein Receptor
The liver clears most cholesterol from the bloodstream through a single docking protein, the LDL...
View profile arrow_forwardLEP
Leptin
Fat tissue talks to the brain through a single 16-kDa hormone, leptin, encoded by LEP, telling th...
View profile arrow_forwardLEPR
Leptin Receptor
The hunger hormone leptin only works if the brain can hear it, and LEPR builds the receptor that...
View profile arrow_forwardLMNA
Lamin A/C
LMNA builds the structural mesh that lines the inner nuclear membrane, giving the nucleus its sha...
View profile arrow_forwardLPA
Apolipoprotein(a)
LPA encodes apolipoprotein(a), a protein that latches onto an LDL particle to form lipoprotein(a)...
View profile arrow_forwardLRP5
LDL Receptor Related Protein 5
Bone density hinges on a single molecular switch built from LRP5, a receptor on osteoblasts that...
View profile arrow_forwardLRRK2
Leucine Rich Repeat Kinase 2
LRRK2 encodes a kinase that keeps the cell's waste-disposal system running by tagging RAB GTPases...
View profile arrow_forwardMAOA
Monoamine Oxidase A
Neurons keep mood, impulse control, and the stress response in check through MAOA, a mitochondria...
View profile arrow_forwardMAPT
Microtubule Associated Protein Tau
Every neuron's internal scaffolding depends on tau, the protein MAPT builds to clip onto microtub...
View profile arrow_forwardMC1R
Melanocortin 1 Receptor
MC1R encodes a G-protein-coupled receptor that, when bound by alpha-MSH, raises intracellular cAM...
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
Every cell keeps a jailer posted outside its most important tumor suppressor, and MDM2 is that ja...
View profile arrow_forwardMET
MET Proto-Oncogene, Receptor Tyrosine Kinase
MET builds a receptor on the cell surface that answers to hepatocyte growth factor, a signal that...
View profile arrow_forwardMFF
Mitochondrial Fission Factor
Mitochondria only divide when a protein called MFF drags the cutting machinery into place. MFF si...
View profile arrow_forwardMFN1
Mitofusin 1
Mitochondria are not isolated capsules but a constantly remodeling network, and MFN1 is one of 2...
View profile arrow_forwardMFN2
Mitofusin 2
MFN2 anchors the outer mitochondrial membrane and, with its close relative MFN1, powers the fusio...
View profile arrow_forwardMIEF1
Mitochondrial Elongation Factor 1
Most proteins that recruit DRP1 to a mitochondrion do one job: grab the enzyme and pull it in. MI...
View profile arrow_forwardMIEF2
Mitochondrial Elongation Factor 2
MID49, encoded by the gene MIEF2, partners with its relative MIEF1 to decide how the DRP1 fission...
View profile arrow_forwardMITF
Microphthalmia-Associated Transcription Factor
Every skin, hair, and eye color trait begins with MITF, the master switch that turns a precursor...
View profile arrow_forwardMLH1
MutL Homolog 1
MLH1 is one of the cell's typo correctors, scanning freshly copied DNA for mismatched letters and...
View profile arrow_forwardMMP1
Matrix Metallopeptidase 1 (Interstitial Collagenase)
MMP1 is the zinc-dependent collagenase that makes the rate-limiting first cut in type I and type...
View profile arrow_forwardMMP3
Matrix Metallopeptidase 3 (Stromelysin 1)
MMP3 is a broad-spectrum demolition enzyme, one of more than 20 matrix metalloproteinases that de...
View profile arrow_forwardMMP9
Matrix Metallopeptidase 9
MMP9 is the enzyme that breaks down gelatin and the basement membrane, the thin type IV collagen...
View profile arrow_forwardMSH2
MutS Homolog 2
MSH2 partners with MSH6 to hunt down mismatched or looped DNA bases that slip past replication. T...
View profile arrow_forwardMT-ATP6
Mitochondrially Encoded ATP Synthase Membrane Subunit 6
MT-ATP6 encodes a core subunit of the proton-pumping turbine inside Complex V, the enzyme that sp...
View profile arrow_forwardMT-ATP8
Mitochondrially Encoded ATP Synthase Membrane Subunit 8
MT-ATP8 encodes one of the smallest known human proteins, a 68-amino-acid peptide. It scaffolds t...
View profile arrow_forwardMT-CO1
Mitochondrially Encoded Cytochrome C Oxidase I
MT-CO1 encodes the catalytic core of cytochrome c oxidase, Complex IV, the terminal enzyme of the...
View profile arrow_forwardMT-CO2
Mitochondrially Encoded Cytochrome C Oxidase II
Complex IV assembles from 13 protein subunits, but only 3 come from mitochondrial DNA, and MT-CO2...
View profile arrow_forwardMT-CO3
Mitochondrially Encoded Cytochrome C Oxidase III
Deep inside the mitochondria, MT-CO3 helps build the final engine in the cell's energy assembly l...
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 builds a core subunit of Complex I, the first gatekeeper in the mitochondrial energy chain...
View profile arrow_forwardMT-ND2
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2
MT-ND2 builds a subunit of Complex I that helps pump protons across the inner mitochondrial membr...
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 builds one of the largest subunits of Complex I, the entry point of the mitochondrial ener...
View profile arrow_forwardMT-ND4L
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4L
MT-ND4L encodes one of the smallest subunits of Complex I, a compact 98 amino acid keystone in th...
View profile arrow_forwardMT-ND5
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5
MT-ND5 encodes the largest subunit of Complex I, a 603 amino acid distal pump that drives much of...
View profile arrow_forwardMT-ND6
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6
MT-ND6 is one of seven core Complex I subunits encoded by mitochondrial DNA, and the only one bui...
View profile arrow_forwardMTHFR
Methylenetetrahydrofolate Reductase
MTHFR converts one form of folate into 5-methyltetrahydrofolate, the active form the body needs t...
View profile arrow_forwardMTOR
Mechanistic Target of Rapamycin
Within minutes of a meal, MTOR switches a cell between growth and cleanup mode. When amino acids...
View profile arrow_forwardMYBPC3
Myosin Binding Protein C3
MYBPC3 encodes a structural protein that clamps down on the heart's contractile machinery, keepin...
View profile arrow_forwardMYC
MYC Proto-Oncogene, BHLH Transcription Factor
MYC acts less like a single switch and more like a volume knob, amplifying genes already active i...
View profile arrow_forwardMYH7
Myosin Heavy Chain 7
MYH7 encodes beta-myosin heavy chain, the molecular motor that converts chemical energy from ATP...
View profile arrow_forwardNAMPT
Nicotinamide Phosphoribosyltransferase
Every cell relies on NAMPT to recycle NAD+, the molecule it needs to convert food into usable ene...
View profile arrow_forwardNANOG
Nanog Homeobox
Every embryonic stem cell can become any of roughly 200 cell types, and NANOG is one of three mas...
View profile arrow_forwardNF1
Neurofibromin 1
Neurofibromin, the protein made by NF1, works as a molecular brake on RAS, a signaling protein th...
View profile arrow_forwardNFE2L2
Nuclear Factor, Erythroid 2 Like 2
Every cell faces a constant barrage of oxidative stress, molecular damage from unstable free radi...
View profile arrow_forwardNFKB1
Nuclear Factor Kappa B Subunit 1
Nearly every immune response passes through one hub, and NFKB1 supplies one of its central compon...
View profile arrow_forwardNLRP3
NLR Family Pyrin Domain Containing 3
NLRP3 builds a molecular smoke detector inside immune cells, a structure called the inflammasome...
View profile arrow_forwardNMRK1
Nicotinamide Riboside Kinase 1
NMRK1 encodes the enzyme that converts nicotinamide riboside into NMN, a direct precursor of NAD+...
View profile arrow_forwardNOD2
Nucleotide Binding Oligomerization Domain Containing 2
NOD2 works inside gut cells as a sentinel for bacterial peptidoglycan, triggering autophagy and i...
View profile arrow_forwardNOS3
Nitric Oxide Synthase 3
NOS3 encodes eNOS, the enzyme lining blood vessels that converts the amino acid L-arginine into n...
View profile arrow_forwardNOTCH1
Notch Receptor 1
Cells can pass genetic instructions to their neighbors through direct physical contact, using NOT...
View profile arrow_forwardNQO1
NAD(P)H Quinone Dehydrogenase 1
NQO1 protects cells from quinones, reactive compounds that generate a burst of destructive free r...
View profile arrow_forwardNRAS
NRAS Proto-Oncogene, GTPase
NRAS acts as a molecular switch that normally turns off growth signals after a brief pulse. It en...
View profile arrow_forwardNRF1
Nuclear Respiratory Factor 1
NRF1 acts as the conductor linking the cell's two genomes, telling mitochondria how many power pl...
View profile arrow_forwardOPA1
Optic Atrophy 1 (Mitochondrial Dynamin-Like GTPase)
OPA1 works like a molecular zipper, stitching the folds inside mitochondria into tight, energy-ge...
View profile arrow_forwardPALB2
Partner and Localizer of BRCA2
PALB2 functions as the molecular bridge that physically links BRCA1 and BRCA2, the two proteins r...
View profile arrow_forwardPARK7
Parkinson Protein 7
PARK7, also known as DJ-1, works as a cellular smoke detector for oxidative damage. A single sens...
View profile arrow_forwardPARP1
Poly(ADP-ribose) Polymerase 1
PARP1 acts as the cell's smoke detector for DNA damage, sensing broken strands within seconds. Us...
View profile arrow_forwardPCSK9
Proprotein Convertase Subtilisin/Kexin Type 9
PCSK9 works like a self-destruct switch for the liver's cholesterol-clearing machinery. It binds...
View profile arrow_forwardPDCD1
Programmed Cell Death 1
PDCD1 encodes PD-1, the brake pedal that normally stops immune T-cells from attacking the body's...
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 carries instructions for building the engine at the heart of cell growth signaling. Normal...
View profile arrow_forwardPINK1
PTEN Induced Kinase 1
PINK1 acts as a mitochondrial sentinel, patrolling the health of the cell's power plants. When a...
View profile arrow_forwardPKD1
Polycystin 1, Transient Receptor Potential Channel Interacting
PKD1 encodes polycystin-1, a giant receptor in the antenna-like primary cilium of kidney tubule c...
View profile arrow_forwardPKD2
Polycystin 2, Transient Receptor Potential Cation Channel
PKD2 encodes polycystin-2, a calcium-permeable channel from the TRP family that opens the gate fo...
View profile arrow_forwardPNPLA3
Patatin Like Phospholipase Domain Containing 3
PNPLA3 makes an enzyme that normally sits on fat droplets inside liver cells and helps break down...
View profile arrow_forwardPOLG
DNA Polymerase Gamma, Catalytic Subunit
POLG encodes the sole DNA polymerase that copies and repairs mitochondrial DNA, using built-in pr...
View profile arrow_forwardPOT1
Protection of Telomeres Protein 1
POT1 sits at the tip of every chromosome, gripping the single strand of telomeric DNA that would...
View profile arrow_forwardPOU5F1
POU Class 5 Homeobox 1 (Oct4)
POU5F1 encodes OCT4, the master switch that keeps embryonic stem cells pluripotent, able to becom...
View profile arrow_forwardPPARA
Peroxisome Proliferator Activated Receptor Alpha
In the liver, heart, and skeletal muscle, PPARA senses circulating fatty acids and flips a molecu...
View profile arrow_forwardPPARG
Peroxisome Proliferator Activated Receptor Gamma
Every fat cell in the body begins as a decision made by PPARG, the master switch that turns immat...
View profile arrow_forwardPPARGC1A
PPARG Coactivator 1 Alpha
A single bout of vigorous exercise can roughly double the number of mitochondria a muscle cell bu...
View profile arrow_forwardPPARGC1B
PPARG Coactivator 1 Beta
PGC-1β, encoded by PPARGC1B, is the lesser-known partner of PGC-1α, and it specializes in keeping...
View profile arrow_forwardPRKAA1
Protein Kinase AMP-Activated Catalytic Subunit Alpha 1
When a cell's fuel gauge drops and ATP runs low, PRKAA1 is what notices first. It encodes the alp...
View profile arrow_forwardPRKAA2
Protein Kinase AMP-Activated Catalytic Subunit Alpha 2
PRKAA2 encodes the alpha-2 subunit of AMPK, the enzyme that acts as the cell's fuel gauge, switch...
View profile arrow_forwardPRKN
Parkin RBR E3 Ubiquitin Protein Ligase
PRKN encodes parkin, an enzyme that acts as the cell's quality control inspector for mitochondria...
View profile arrow_forwardPSEN1
Presenilin 1
PSEN1 encodes presenilin-1, the core catalytic component of gamma-secretase, an enzyme complex th...
View profile arrow_forwardPSEN2
Presenilin 2
PSEN2 encodes presenilin-2, one of two catalytic subunits that can anchor the gamma-secretase enz...
View profile arrow_forwardPTEN
Phosphatase and Tensin Homolog
PTEN acts as the cell's brake pedal on growth, reversing a chemical signal that the PI3K enzyme u...
View profile arrow_forwardPTPN22
Protein Tyrosine Phosphatase Non-Receptor Type 22
PTPN22 encodes LYP, a phosphatase that brakes T-cell and B-cell activation, quieting the immune r...
View profile arrow_forwardRAD51
RAD51 Recombinase
When a chromosome snaps in two, RAD51 is the protein that hunts down a matching sequence and copi...
View profile arrow_forwardRARA
Retinoic Acid Receptor Alpha
RARA encodes retinoic acid receptor alpha, a receptor that reads vitamin A's active metabolite an...
View profile arrow_forwardRB1
RB Transcriptional Corepressor 1
RB1 acts as the cell's gatekeeper, clamping down on the genes needed for DNA replication until a...
View profile arrow_forwardRET
Ret Proto-Oncogene
RET sits on the surface of nerve and kidney cells, waiting for a growth signal called GDNF to swi...
View profile arrow_forwardRICTOR
Rapamycin-Insensitive Companion of mTOR
RICTOR builds mTORC2, one of the cell's two mTOR complexes and the half that classic rapamycin th...
View profile arrow_forwardRPTOR
Regulatory Associated Protein of mTOR
RAPTOR anchors mTORC1 to the lysosome's surface, the exact spot where the cell checks whether it...
View profile arrow_forwardRXRA
Retinoid X Receptor Alpha
RXRA acts as biology's universal dance partner, pairing with at least 15 other nuclear receptors,...
View profile arrow_forwardSCN1A
Sodium Voltage-Gated Channel Subunit Alpha 1
SCN1A builds Nav1.1, a sodium channel that fires the electrical pulses inhibitory brain cells use...
View profile arrow_forwardSCN5A
Sodium Voltage-Gated Channel Alpha Subunit 5
SCN5A builds Nav1.5, the sodium channel that fires the spark launching every heartbeat's electric...
View profile arrow_forwardSCN9A
Sodium Voltage-Gated Channel Subunit Alpha 9
Nerve cells feel pain because of SCN9A, the gene that builds Nav1.7, a sodium channel that sets h...
View profile arrow_forwardSERPINA1
Serpin Family A Member 1
SERPINA1 encodes alpha-1 antitrypsin, a liver-made protein that travels to the lungs to restrain...
View profile arrow_forwardSERPINE1
Serpin Family E Member 1 (PAI-1)
SERPINE1 encodes PAI-1, a protein that blocks the enzymes that dissolve blood clots, tipping the...
View profile arrow_forwardSESN1
Sestrin 1
When cellular stress hits, SESN1 pulls an emergency brake on cell growth. First identified in 199...
View profile arrow_forwardSESN2
Sestrin 2
SESN2 builds sestrin2, a stress-response protein that scaffolds AMPK, the cell's energy sensor, h...
View profile arrow_forwardSIRT1
Sirtuin 1
SIRT1 builds an enzyme that strips acetyl tags off proteins, using NAD+ as fuel to sense how much...
View profile arrow_forwardSIRT2
Sirtuin 2
Cell division depends on SIRT2, one of 7 human sirtuins, which uses NAD+ to strip acetyl tags off...
View profile arrow_forwardSIRT3
Sirtuin 3
Mitochondria have their own cleanup crew, and SIRT3, one of 7 human sirtuins, runs it. It uses NA...
View profile arrow_forwardSIRT4
Sirtuin 4
SIRT4, one of 7 human sirtuins, works differently from most of its relatives. Instead of simply r...
View profile arrow_forwardSIRT5
Sirtuin 5
SIRT5, an NAD+-dependent enzyme, does not do what its 6 sirtuin cousins do. Instead of removing s...
View profile arrow_forwardSIRT6
Sirtuin 6
SIRT6 works as a cellular repair foreman, rushing to sites of DNA double-strand breaks and recrui...
View profile arrow_forwardSIRT7
Sirtuin 7
SIRT7 sits inside the nucleolus, the cell's ribosome factory, using NAD+ to control how fast the...
View profile arrow_forwardSLC6A4
Solute Carrier Family 6 Member 4
SLC6A4 encodes SERT, the molecular vacuum cleaner that sucks serotonin back out of the synapse af...
View profile arrow_forwardSMAD4
SMAD Family Member 4
SMAD4 sits at the hub of the TGF-β signaling pathway, relaying growth-restraining signals from th...
View profile arrow_forwardSMN1
Survival of Motor Neuron 1
SMN1 makes the SMN protein, the master assembler that builds spliceosomes, the molecular machines...
View profile arrow_forwardSNCA
Synuclein Alpha
SNCA encodes alpha-synuclein, a small protein normally stationed at nerve terminals where it help...
View profile arrow_forwardSOD1
Superoxide Dismutase 1
SOD1 encodes an antioxidant enzyme that neutralizes superoxide radicals, converting them into oxy...
View profile arrow_forwardSOD2
Superoxide Dismutase 2, Mitochondrial
SOD2 encodes manganese superoxide dismutase, the mitochondrial enzyme that catches superoxide rad...
View profile arrow_forwardSOX2
SRY-Box Transcription Factor 2
SOX2 acts as a master switch that keeps stem cells acting like stem cells. It is one of just 4 Ya...
View profile arrow_forwardSQSTM1
Sequestosome 1
SQSTM1 encodes p62, a 440-amino-acid protein that acts as the cell's recycling tag for damaged ma...
View profile arrow_forwardSTAT3
Signal Transducer and Activator of Transcription 3
STAT3 is the cell's fast-response messenger for inflammation and repair. When cytokines such as i...
View profile arrow_forwardSTK11
Serine/Threonine Kinase 11
STK11 encodes LKB1, the master switch that senses when a cell is running low on energy. Working w...
View profile arrow_forwardTARDBP
TAR DNA Binding Protein
TARDBP encodes TDP-43, a protein that normally lives in the nucleus of neurons, editing messenger...
View profile arrow_forwardTCF7L2
Transcription Factor 7 Like 2
TCF7L2 sits at the end of the Wnt signaling pathway inside pancreatic beta cells, shaping both th...
View profile arrow_forwardTERC
Telomerase RNA Component
TERC encodes not a protein but a long noncoding RNA, the template telomerase uses to rebuild the...
View profile arrow_forwardTERF2
Telomeric Repeat-Binding Factor 2
TERF2 encodes TRF2, a 542-amino-acid shelterin protein that folds each telomere into a protective...
View profile arrow_forwardTERT
Telomerase Reverse Transcriptase
TERT encodes the catalytic engine of telomerase, the enzyme that rebuilds protective caps on chro...
View profile arrow_forwardTET2
Tet Methylcytosine Dioxygenase 2
TET2 encodes an enzyme that strips a chemical tag called a methyl group off DNA, flipping silence...
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 encodes a cytokine that cells release in a locked, inactive form. It becomes biologically a...
View profile arrow_forwardTIMP1
TIMP Metallopeptidase Inhibitor 1
TIMP1 encodes a small secreted protein that binds tightly to matrix metalloproteinases, a family...
View profile arrow_forwardTM6SF2
Transmembrane 6 Superfamily Member 2
TM6SF2 helps liver cells package triglycerides into VLDL particles for export into the bloodstrea...
View profile arrow_forwardTMSB4X
Thymosin Beta 4 X-Linked
TMSB4X encodes thymosin beta-4, a small protein that binds and sequesters actin, the building blo...
View profile arrow_forwardTNF
Tumor Necrosis Factor
TNF encodes a 17-kilodalton signaling protein, produced from a gene on chromosome 6, that immune...
View profile arrow_forwardTNFSF11
TNF Superfamily Member 11
TNFSF11 encodes RANKL, a signaling protein that bone and immune cells display to instruct precurs...
View profile arrow_forwardTP53
Tumor Protein P53
TP53 encodes p53, a protein often called the guardian of the genome because it halts a damaged ce...
View profile arrow_forwardTPMT
Thiopurine S-Methyltransferase
TPMT encodes an enzyme that breaks down thiopurine drugs, a class of medications used to treat le...
View profile arrow_forwardTPO
Thyroid Peroxidase
TPO encodes thyroid peroxidase, the enzyme that attaches iodine atoms onto a scaffold protein ins...
View profile arrow_forwardTREM2
Triggering Receptor Expressed on Myeloid Cells 2
Deep in the brain, immune cells called microglia use a single surface receptor, TREM2, to sense a...
View profile arrow_forwardTSC1
Tuberous Sclerosis Complex 1
Inside nearly every cell sits a molecular brake pedal, and TSC1 builds part of it. The protein it...
View profile arrow_forwardTSC2
Tuberous Sclerosis Complex 2
TSC2 encodes tuberin, the larger partner in a two-protein complex that switches off Rheb, a small...
View profile arrow_forwardTSHR
Thyroid Stimulating Hormone Receptor
TSHR sits on the surface of thyroid cells like a molecular antenna, waiting for thyroid-stimulati...
View profile arrow_forwardTTN
Titin
Spanning half of each muscle sarcomere, titin works as a molecular spring, built by TTN, a gene s...
View profile arrow_forwardTXN
Thioredoxin
Deep inside every cell, a compact 12-kilodalton protein of just over 100 amino acids works like a...
View profile arrow_forwardTYR
Tyrosinase
Skin, hair, and eye color all trace back to a single copper-dependent enzyme called tyrosinase, b...
View profile arrow_forwardTYRP1
Tyrosinase Related Protein 1
Deep inside pigment-producing cells, an enzyme called TYRP1 uses 2 zinc ions, rather than the cop...
View profile arrow_forwardUBB
Ubiquitin B
Nearly every damaged or misfolded protein in the body gets tagged for destruction, and that tag i...
View profile arrow_forwardUBC
Ubiquitin C
When cells face heat, toxins, or DNA damage, they need a sudden flood of ubiquitin tags, and the...
View profile arrow_forwardULK1
Unc-51 Like Autophagy Activating Kinase 1
Deep inside every cell, a kinase called ULK1 decides whether the cell recycles its own damaged pr...
View profile arrow_forwardVDR
Vitamin D Receptor
VDR encodes the vitamin D receptor, a nuclear switch that turns genes on once the active hormone...
View profile arrow_forwardVEGFA
Vascular Endothelial Growth Factor A
VEGFA encodes vascular endothelial growth factor A, the signal oxygen-starved cells release to tr...
View profile arrow_forwardVHL
Von Hippel-Lindau Tumor Suppressor
VHL encodes the cell's oxygen sensor, tagging a key growth signal for destruction whenever oxygen...
View profile arrow_forwardVKORC1
Vitamin K Epoxide Reductase Complex Subunit 1
VKORC1 encodes the enzyme that recycles vitamin K so the liver can activate the clotting factors...
View profile arrow_forwardWRN
Werner Syndrome RecQ Like Helicase
WRN encodes a DNA repair enzyme that untangles and trims damaged DNA at chromosome ends called te...
View profile arrow_forwardXRCC1
X-ray repair cross-complementing protein 1
Every cell suffers an estimated 10,000 to 100,000 small DNA lesions each day. XRCC1 is the scaffo...
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