Human Genes & MicroRNAs Registry

ABCA1 9q31.1 Encodes the ATP-binding cassette transporter ABCA1 that exports cellular cholesterol and phospholipids onto lipid-poor ApoA-I and ApoE. ABCG1 21q22.3 Encodes the homodimeric ABCG1 sterol transporter that exports cholesterol and oxysterols from macrophages onto mature HDL particles. ACE 17q23.3 Encodes endothelial angiotensin-converting enzyme, the zinc metallopeptidase generating angiotensin II and degrading bradykinin. ACTN3 11q13.2 Encodes the fast-twitch sarcomeric Z-disc protein alpha-actinin-3; the common R577X nonsense polymorphism influences sprint power versus oxidative muscle metabolism. ACVR2A 2q22.3-q23.1 Encodes activin receptor type-2A, whose ligand-trap ectodomain forms the basis of FDA-approved biologics sotatercept and luspatercept. ACVR2B 3p22.2 Encodes the high-affinity type II serine/threonine kinase receptor for myostatin, activin A, and GDF11 on skeletal muscle fibers. ADIPOQ 3q27.3 Adiponectin, a hormone regulating glucose and lipid metabolism. AGT 1q42.2 Encodes hepatic angiotensinogen, the sole precursor of angiotensin I and II; targeted by long-acting siRNA therapeutics for hypertension. AKT1 14q32.33 Protein kinase regulating cell survival and proliferation. ALAS1 3p21.2 Encodes the rate-limiting hepatic mitochondrial enzyme of heme biosynthesis; target of givosiran siRNA in acute hepatic porphyria. ANGPTL3 1p31.3 Encodes the liver-secreted hepatokine ANGPTL3 that inhibits lipoprotein lipase and endothelial lipase. ANGPTL4 19p13.2 Encodes the fasting-induced ANGPTL4 protein that inhibits adipose lipoprotein lipase to redirect fatty acids to oxidative tissues. ANGPTL8 19p13.2 Encodes the insulin-induced refeeding factor ANGPTL8 that complexes with ANGPTL3 and ANGPTL4 to direct postprandial lipid storage. APOA1 11q23.3 Encodes apolipoprotein A-I, the primary structural protein of high-density lipoprotein (HDL) and cofactor for LCAT in reverse cholesterol transport. APOA5 11q23.3 Encodes apolipoprotein A-V, an activator of intravascular triglyceride lipolysis that suppresses the ANGPTL3/8 inhibitor complex. APOB 2p24.1 Encodes both hepatic ApoB-100 and intestinal ApoB-48 via site-specific C-to-U mRNA editing, serving as the structural scaffold of atherogenic lipoproteins. APOC3 11q23.3 Encodes apolipoprotein C-III, a potent inhibitor of plasma triglyceride clearance and validated target of ASO and siRNA therapeutics. Beta Catenin Regulates cell adhesion and Wnt signaling. BMPR1A 10q23.2 Encodes the ALK3 type I bone morphogenetic protein receptor that activates SMAD1/5/8 to promote osteogenesis, muscle hypertrophy, and intestinal crypt homeostasis. CD38 4p15.32 Encodes the principal mammalian NAD+-degrading glycohydrolase and plasma-cell surface marker targeted by daratumumab. CETP 16q13 Encodes cholesteryl ester transfer protein, which transfers cholesteryl esters from HDL to atherogenic ApoB-containing lipoproteins. CRH 8q13.1 Corticotropin-releasing hormone, regulates stress response. CTLA4 2q33.2 Encodes the CTLA-4 immune checkpoint receptor that outcompetes CD28 for B7 ligands to restrain early T-cell priming. EPO 7q22.1 Encodes erythropoietin, the hypoxia-inducible renal glycoprotein hormone governing red blood cell production in bone marrow. F2 11p11.2 Encodes thrombin, critical for blood clotting. F5 1q24.2 Coagulation factor V, regulates blood clotting. F8 Xq28 Encodes coagulation factor VIII; X-linked mutations cause hemophilia A, treated by AAV5-hF8-SQ gene therapy and bispecific antibodies. F9 Xq27.1 Encodes vitamin K-dependent coagulation factor IX; mutated in hemophilia B and delivered as the hyperactive Padua variant in AAV5 gene therapy. FGF21 19q13.33 Encodes the fasting- and stress-induced endocrine hepatokine FGF21 that signals via FGFR1c/beta-Klotho to stimulate fatty acid oxidation, thermogenesis, and liver fibrosis resolution. FST 5q11.2 Encodes follistatin, the extracellular glycoprotein that wraps around and neutralizes myostatin and activin A to promote muscle growth. G6PC1 17q21.31 Encodes the endoplasmic reticulum glucose-6-phosphatase catalytic subunit required for hepatic glucose release during fasting. GCK 7p13 Glucokinase, regulates glucose metabolism. GDF11 12q13.2 Encodes growth differentiation factor 11 (BMP-11), a close structural paralog of myostatin essential for axial skeletal patterning, neurogenesis, and erythropoiesis regulation. GDF15 19p13.11 Encodes the cellular stress-induced mitokine GDF15 that signals through the brainstem GFRAL-RET receptor to regulate appetite, nausea, and energy balance. GH1 17q23.3 Encodes pituitary growth hormone (somatotropin), the master endocrine regulator of postnatal longitudinal bone growth and hepatic IGF-1 production. GHR 5p13.1-p12 Encodes the transmembrane growth hormone receptor; biallelic loss-of-function causes Laron syndrome with severe dwarfism and protection from diabetes and cancer. GYS1 19q13.33 Glycogen synthase 1, muscle-specific enzyme for glycogen synthesis. GYS2 12p12.1 Glycogen synthase 2, liver-specific enzyme for glycogen synthesis. HAO1 20p12.3 Encodes liver-specific peroxisomal glycolate oxidase, the validated substrate-reduction target of lumasiran siRNA in primary hyperoxaluria type 1. HBB 11p15.4 Encodes the adult beta-globin subunit of hemoglobin A; mutated in sickle cell disease and beta-thalassemia. HBG1 11p15.4 Encodes the A-gamma globin chain of fetal hemoglobin (HbF), whose reactivation rescues sickle cell disease and beta-thalassemia. HBG2 11p15.4 Encodes the G-gamma globin chain of fetal hemoglobin (HbF), predominating at birth and co-reactivated with HBG1 in genetic therapies for sickle cell disease. HFE 6p22.2 Regulates iron homeostasis; mutations cause hemochromatosis. IGF1 12q23.2 Encodes insulin-like growth factor 1 (somatomedin C), the primary endocrine mediator of growth hormone and local autocrine driver of skeletal muscle hypertrophy. IGF1R 15q26.3 Encodes the heterotetrameric receptor tyrosine kinase mediating IGF-1 and IGF-2 anabolic signaling; hypomorphic variants are enriched in centenarians. IGF2 11p15.5 Encodes paternally expressed insulin-like growth factor 2, the primary mitogenic driver of placental and embryonic growth. IL6 7p15.3 Cytokine gene regulating inflammation and immune response. INHBA 7p14.1 Encodes the beta-A subunit that homodimerizes into Activin A (stimulating FSH and muscle catabolism) or heterodimerizes into Inhibin A. INS 11p15.5 Insulin, a hormone regulating glucose metabolism. KL 13q13.1 Encodes alpha-Klotho, the renal FGF23 co-receptor and circulating longevity hormone regulating phosphate homeostasis and cognitive resilience. KLKB1 4q35.2 Encodes hepatic plasma prekallikrein, the serine protease zymogen that releases vasoactive bradykinin; target of in vivo CRISPR and ASO therapies for hereditary angioedema. LDHA 11p15.1 Encodes the muscle/liver M-subunit of lactate dehydrogenase, catalyzing both anaerobic lactate production and the final step of hepatic oxalate synthesis. LDLR 19p13.2 Encodes the hepatic low-density lipoprotein receptor discovered by Brown and Goldstein, clearing cholesterol-rich LDL from plasma. LIN28 1p36.11 RNA-binding protein regulating developmental timing and stem cell pluripotency. LPA 6q25.3-q26 Encodes apolipoprotein(a), the polymorphic kringle-repeat glycoprotein covalently linked to ApoB-100 in atherogenic lipoprotein(a). LPL 8p21.3 Encodes lipoprotein lipase, the rate-limiting intravascular enzyme hydrolyzing triglycerides in chylomicrons and VLDL. MSTN 2q32.2 Encodes myostatin (GDF-8), the autocrine/paracrine TGF-beta family chalone that restricts skeletal muscle fiber hypertrophy and hyperplasia. MTHFR 1p36.22 Methylenetetrahydrofolate reductase, regulates folate metabolism. NADPH Oxidase Enzyme complex generating reactive oxygen species. NADSYN1 11q13.4 Encodes glutamine-dependent NAD+ synthetase 1, catalyzing the final amidation of nicotinic acid adenine dinucleotide (NAAD) into NAD+. NAMPT 7q22.3 Encodes nicotinamide phosphoribosyltransferase, the rate-limiting enzyme recycling nicotinamide into NMN in the mammalian NAD+ salvage pathway. NOS3 7q36.1 Encodes endothelial nitric oxide synthase (eNOS), which synthesizes vascular nitric oxide in response to shear stress and acetylcholine. NPC1L1 7p13 Encodes the intestinal brush-border and hepatobiliary sterol transporter NPC1L1, the direct molecular target of ezetimibe. PAH 12q23.2 Phenylalanine hydroxylase, metabolizes phenylalanine. PCSK9 1p32.3 Proprotein convertase, regulates cholesterol homeostasis by targeting hepatic LDL receptors for lysosomal degradation. PDCD1 2q37.3 Encodes the PD-1 inhibitory immune checkpoint receptor on activated T cells, targeted by cancer immunotherapies and CRISPR-edited CAR-T cells. PI3K 3q26.32 Phosphoinositide 3-kinase, regulates cell growth and survival. PINK1 1p36.12 Encodes the mitochondrial serine/threonine kinase PINK1 that senses membrane depolarization and recruits Parkin to initiate mitophagy. PKN 19p13.12 Protein kinase N, regulates cytoskeletal organization. POMC 2p23.3 Pro-opiomelanocortin, precursor to multiple hormones. PRKN 6q26 Encodes the Parkin RBR E3 ubiquitin ligase activated by PINK1 to ubiquitylate outer mitochondrial membrane proteins for mitophagy. SCARB1 12q24.31 Encodes SR-B1, the physiological high-density lipoprotein receptor mediating selective cholesteryl ester uptake in the liver and steroidogenic glands. SERPINA1 14q32.13 Encodes alpha-1 antitrypsin, the major plasma serine protease inhibitor protecting pulmonary alveoli from neutrophil elastase. SMTN 22q12.2 Smoothelin, structural protein in smooth muscle. SOD1 21q22.11 Superoxide dismutase 1, neutralizes reactive oxygen species. Sonic Hedgehog Signaling protein critical for embryonic development. TGFB1 19q13.2 Transforming growth factor beta 1, regulates cell growth and immunity. TNF 6p21.33 Tumor necrosis factor, regulates inflammation and immunity. TTR 18q12.1 Encodes transthyretin, the hepatic tetrameric transporter of thyroxine and retinol whose dissociation causes hereditary and wild-type ATTR amyloidosis. UCP1 4q31.1 Uncoupling protein 1, regulates non-shivering thermogenesis in brown and beige adipose mitochondria. WNT Signaling proteins regulating development and cell proliferation.

APOE 19q13.32 Lipoprotein gene involved in lipid metabolism; linked to Alzheimer disease. APP 21q21.3 Amyloid precursor protein, linked to Alzheimer’s disease. BDNF 11p14.1 Brain-derived neurotrophic factor, supports neural growth, synaptic plasticity, and long-term potentiation. CEP290 12q21.32 Encodes the centrosomal/ciliary transition-zone protein mutated in Leber congenital amaurosis type 10. CFTR Ion channel gene regulating chloride transport. COMT 22q11.21 Encodes catechol-O-methyltransferase, the primary enzyme clearing dopamine in the prefrontal cortex. DMPK 19q13.32 Encodes myotonic dystrophy protein kinase; 3-prime UTR CTG repeat expansion causes myotonic dystrophy type 1. FMR1 Xq27.3 Encodes FMRP, regulates mRNA translation; linked to fragile X syndrome. Huntingtin Protein involved in neural function; mutations cause Huntington's disease. KCNH2 7q36.1 Encodes the hERG (Kv11.1) potassium channel mediating the rapid delayed rectifier current IKr in cardiac repolarization. LEPTIN Hormone regulating energy balance and appetite. LRP5 11q13.2 Co-receptor in Wnt signaling pathway. MAOA Xp11.3 Encodes the X-linked mitochondrial enzyme monoamine oxidase A catabolizing serotonin and norepinephrine. MECP2 Xq28 Encodes the X-linked methyl-CpG-binding chromatin reader mutated in Rett syndrome. NGF 1p13.2 Encodes nerve growth factor (beta-NGF), essential for nociceptive and sympathetic neuron survival and pain sensitization. NOTCH1 9q34.3 Receptor regulating cell differentiation and development. NTRK1 1q23.1 Encodes the TrkA receptor tyrosine kinase for nerve growth factor; mutated in CIPA and rearranged in solid tumors. P2RX3 11q12.1 Encodes the ATP-gated P2X3 ion channel subunit mediating purinergic pain and cough reflexes. PIEZO1 16q24.3 Encodes the non-neuronal mechanosensitive cation channel governing erythrocyte volume and vascular shear stress. PIEZO2 18p11.22-p11.21 Encodes the principal vertebrate mechanosensitive ion channel for light touch and proprioception. RPE65 1p31.3 Encodes the retinal pigment epithelium isomerohydrolase regenerating 11-cis-retinal; target of Luxturna gene therapy. RYR2 1q43 Encodes the giant sarcoplasmic reticulum ryanodine receptor 2 governing cardiac calcium-induced calcium release. SCN5A 3p22.2 Encodes the principal cardiac voltage-gated sodium channel Nav1.5 driving phase 0 myocardial depolarization. SCN9A 2q24.3 Encodes the Nav1.7 voltage-gated sodium channel alpha subunit governing peripheral pain signaling. SCN10A 3p22.2 Encodes the tetrodotoxin-resistant Nav1.8 sodium channel driving repetitive firing in nociceptors. SCN11A 3p22.2 Encodes the TTX-resistant Nav1.9 sodium channel generating persistent subthreshold currents in nociceptors. SLC6A4 17q11.2 Encodes the presynaptic serotonin transporter (SERT), the primary molecular target of SSRI antidepressants. SMN1 5q13.2 Encodes the survival motor neuron protein required for snRNP assembly; biallelic loss causes spinal muscular atrophy. SMN2 5q13.2 Human-specific centromeric paralog of SMN1 whose copy number and exon 7 splicing govern spinal muscular atrophy severity. TAC1 7q21.3 Encodes the protachykinin-1 precursor cleaved into Substance P and Neurokinin A in nociceptive neurons. TFRC 3q29 Transferrin receptor, regulates iron uptake. THRA 17q21.1 Thyroid hormone receptor alpha, regulates metabolism. THRB 3p24.2 Thyroid hormone receptor beta, regulates metabolism. TRPA1 8q21.11 Encodes the electrophile-sensing TRPA1 cation channel detecting pungent irritants and endogenous oxidative stress. TRPM8 2q37.1 Encodes the primary cold- and menthol-activated ion channel of somatosensory neurons. TRPV4 12q24.11 Encodes a polymodal Ca2+-permeable TRP channel activated by osmotic cell swelling, warmth, and mechanical shear stress.

ABL1 9q34.12 Tyrosine kinase, regulates cell growth; linked to leukemia. APC 5q22.2 Tumor suppressor regulating cell division. ATM 11q22.3 Encodes the apical serine/threonine kinase ATM that senses DNA double-strand breaks and orchestrates genome-wide repair and cell-cycle checkpoints. ATR 3q23 Encodes the essential replication-stress kinase ATR that senses RPA-coated single-stranded DNA to stabilize stalled DNA replication forks. BCL2 18q21.33 Anti-apoptotic protein regulating cell survival. BCL6 3q27.3 Transcription factor regulating lymphocyte differentiation. BRCA1 17q21.31 Tumor suppressor involved in DNA repair. BRCA2 13q13.1 Tumor suppressor involved in DNA repair. C-MYC Oncogene regulating cell proliferation and apoptosis. CDKN1A 6p21.2 Encodes p21Cip1/Waf1, the direct transcriptional target of p53 that inhibits Cyclin-CDK2/CDK1 complexes and PCNA to halt DNA replication. CDKN2A 9p21.3 Encodes both p16INK4a (inhibiting CDK4/6-RB1 phosphorylation) and p14ARF (inhibiting MDM2 to stabilize p53) via overlapping reading frames. CDKN2B 9p21.3 Encodes the p15INK4b cyclin-dependent kinase 4/6 inhibitor induced by TGF-beta signaling at the chromosome 9p21.3 tumor suppressor and coronary disease locus. EGFR 7p11.2 Epidermal growth factor receptor, regulates cell proliferation. HDAC1 1p35.2-p35.1 Encodes the archetype Class I zinc-dependent nuclear histone deacetylase that forms the catalytic core of the Sin3, NuRD, and CoREST chromatin-remodeling complexes. HDAC2 6q21 Encodes Class I histone deacetylase 2, which restrains hippocampal synaptic plasticity and mediates glucocorticoid receptor anti-inflammatory transrepression. HDAC3 5q31.3 Encodes Class I histone deacetylase 3, the sole catalytic engine of the NCoR1 and SMRT nuclear receptor corepressor complexes governing circadian lipid metabolism. HDAC5 17q21.31 Encodes Class IIa histone deacetylase 5, which is phosphorylated and exported from the nucleus by AMPK and CaMKII during exercise to unlock GLUT4 and PGC-1alpha transcription. HDAC6 Xp11.23 Encodes the unique two-domain cytoplasmic Class IIb deacetylase HDAC6 that regulates microtubule axonal transport, HSP90 chaperone function, and aggresomal autophagy. HDAC7 12q13.11 Encodes Class IIa histone deacetylase 7, required for vascular endothelial integrity and thymocyte negative selection. HDAC8 Xq13.1 Encodes the monomeric X-linked Class I deacetylase HDAC8 that recycles the chromosomal cohesin complex subunit SMC3; mutated in Cornelia de Lange syndrome. HDAC9 7p21.1 Encodes Class IIa histone deacetylase 9 (and its splice isoform MITR), a key repressor of cardiac hypertrophy and major genetic risk locus for large-artery ischemic stroke. HDAC10 22q13.33 Encodes Class IIb enzyme HDAC10, which functions primarily as a cytosolic polyamine deacetylase hydrolyzing N8-acetylspermidine to regenerate spermidine. HDAC11 3p25.1 Encodes the sole Class IV enzyme HDAC11, a potent lysine long-chain fatty-acyl deacylase that restrains brown adipose thermogenesis and modulates anti-tumor immunity. HRAS 11p15.5 Oncogene regulating cell growth and division. JAK2 9p24.1 Tyrosine kinase involved in cytokine signaling. KRAS 12p12.1 Oncogene regulating cell growth and division. LMNA 1q22 Encodes nuclear lamins A and C; mutated in dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, and Hutchinson-Gilford progeria syndrome. MDM2 12q15 Encodes the RING-finger E3 ubiquitin ligase MDM2, the principal negative regulator that masks and degrades the p53 tumor suppressor. MTOR 1p36.22 Mechanistic target of rapamycin, the master nutrient-sensing kinase complex governing cell growth, protein synthesis, autophagy, and aging. MYC 8q24.21 Oncogene regulating cell proliferation and apoptosis. NF1 17q11.2 Tumor suppressor regulating RAS signaling. NF2 22q12.2 Tumor suppressor regulating cell adhesion and growth. NRAS 1p13.2 Oncogene regulating cell growth and division. PARP1 1q42.12 Encodes the abundant nuclear enzyme PARP1 that senses DNA strand breaks and consumes NAD+ to synthesize poly(ADP-ribose) repair scaffolds. PDE4A 19p13.2 Encodes cAMP-specific phosphodiesterase 4A, which compartmentalizes cyclic AMP degradation in prefrontal cortical dendritic spines, olfactory neurons, and inflammatory cells. PDE4B 1p31.3 Encodes cAMP-specific phosphodiesterase 4B, the DISC1-binding synaptic enzyme and primary innate-immune PDE4 isoform driving TNF-alpha production in monocytes and microglia. PDE4C 19p13.11 Encodes cAMP-specific phosphodiesterase 4C, which localizes to renal primary cilia to restrain cystogenesis and harbors the most reproducible CpG methylation biomarker of human chronological aging. PDE4D 5q11.2-q12.1 Encodes cAMP-specific phosphodiesterase 4D, the principal regulator of hippocampal cAMP-CREB1 memory consolidation and cardiac ryanodine receptor microdomains. PTEN 10q23.31 Tumor suppressor regulating cell growth. RB1 13q14.2 Tumor suppressor regulating the G1/S cell cycle restriction point by binding E2F transcription factors and recruiting chromatin corepressors. RXRA 9q34.2 Retinoid X receptor alpha, regulates gene expression. RXRB 6p21.32 Retinoid X receptor beta, regulates gene expression. RXRG 1q23.3 Retinoid X receptor gamma, regulates gene expression. TCL1A 14q32.13 Regulates lymphocyte development and oncogenesis. TERC 3q26.2 Encodes the 451-nucleotide non-coding RNA component of telomerase that supplies the template for TTAGGG telomeric DNA synthesis. TERT 5p15.33 Encodes the rate-limiting catalytic reverse transcriptase subunit of telomerase, counteracting telomere attrition in stem cells and reactivated in ~85–90% of cancers. TP53 17p13.1 Tumor suppressor regulating cell cycle arrest, DNA repair, cellular senescence, and apoptosis in response to genomic stress. WRN 8p12 Encodes the bifunctional RecQ DNA helicase and exonuclease mutated in adult-onset Werner progeroid syndrome and required for survival of microsatellite-unstable tumors. WT1 11p13 Wilms tumor 1, regulates kidney and gonadal development.

let-7 MicroRNA family regulating cell differentiation and development. miR-1 MicroRNA regulating muscle development and cardiac function. miR-9 MicroRNA regulating neural development. miR-15a 13q14.2 MicroRNA regulating cell cycle and apoptosis. miR-16 MicroRNA regulating cell cycle and apoptosis. miR-17 13q31.3 MicroRNA regulating cell proliferation and apoptosis. miR-19a 13q31.3 MicroRNA promoting cell proliferation. miR-19b MicroRNA promoting cell proliferation. miR-20a 13q31.3 MicroRNA regulating cell proliferation and angiogenesis. miR-20b Xq26.2 MicroRNA regulating cell proliferation and angiogenesis. miR-21 17q23.1 MicroRNA promoting oncogenesis and anti-apoptosis. miR-25 7q22.1 MicroRNA regulating cell proliferation and apoptosis. miR-27a 19p13.12 MicroRNA regulating lipid metabolism and oncogenesis. miR-27b 9q22.32 MicroRNA regulating lipid metabolism and oncogenesis. miR-29a 7q32.3 MicroRNA regulating fibrosis and apoptosis. miR-29b MicroRNA regulating fibrosis and apoptosis. miR-29c 1q32.2 MicroRNA regulating extracellular matrix and apoptosis. miR-30a 6q13 MicroRNA regulating cell proliferation and apoptosis. miR-30b 8q24.22 MicroRNA regulating cell proliferation and apoptosis. miR-30c MicroRNA regulating cell differentiation and apoptosis. miR-30d 8q24.22 MicroRNA regulating cell proliferation and apoptosis. miR-30e 1p34.2 MicroRNA regulating cell proliferation and apoptosis. miR-33a 22q13.2 MicroRNA regulating lipid metabolism. miR-33b 17p11.2 MicroRNA regulating lipid metabolism. miR-34a 1p36.22 MicroRNA regulating cell cycle and apoptosis. miR-92a MicroRNA regulating angiogenesis and cell proliferation. miR-93 7q22.1 MicroRNA regulating cell proliferation and angiogenesis. miR-96 7q32.2 MicroRNA regulating sensory development. miR-98 Xp11.22 MicroRNA regulating cell proliferation and apoptosis. miR-100 11q24.1 MicroRNA regulating cell proliferation and differentiation. miR-101 MicroRNA regulating cell proliferation and apoptosis. miR-103 MicroRNA regulating metabolism and cell proliferation. miR-106a Xq26.2 MicroRNA regulating cell proliferation and apoptosis. miR-106b 7q22.1 MicroRNA regulating cell proliferation and apoptosis. miR-107 10q23.31 MicroRNA regulating metabolism and cell proliferation. miR-122 18q21.31 MicroRNA regulating liver function and lipid metabolism. miR-124 MicroRNA regulating neural differentiation. miR-125b MicroRNA regulating cell proliferation and differentiation. miR-126 9q34.3 MicroRNA regulating angiogenesis and vascular integrity. miR-127 14q32.2 MicroRNA regulating cell proliferation and differentiation. miR-128a MicroRNA regulating neural development and oncogenesis. miR-128b MicroRNA regulating neural development and oncogenesis. miR-132 17p13.3 MicroRNA regulating neural development and inflammation. miR-133a MicroRNA regulating muscle and cardiac development. miR-134 14q32.31 MicroRNA regulating neural development and synaptic plasticity. miR-136 14q32.2 MicroRNA regulating cell proliferation and apoptosis. miR-137 1p21.3 MicroRNA regulating neural development and oncogenesis. miR-138 MicroRNA regulating neural development and oncogenesis. miR-141 12p13.31 MicroRNA regulating epithelial-mesenchymal transition. miR-143 5q32 MicroRNA regulating cell proliferation and differentiation. miR-145 5q32 MicroRNA regulating cell proliferation and differentiation. miR-146a 5q33.3 MicroRNA regulating inflammation and immunity. miR-153 MicroRNA regulating neural development and oncogenesis. miR-155 21q21.3 MicroRNA regulating immune responses. miR-181a MicroRNA regulating immune and neural development. miR-181b MicroRNA regulating immune and neural development. miR-181c 19p13.12 MicroRNA regulating immune and neural development. miR-181d 19p13.12 MicroRNA regulating immune and neural development. miR-183 7q32.2 MicroRNA regulating sensory and neural development. miR-191 3p21.31 MicroRNA regulating cell proliferation and apoptosis. miR-192 11q13.1 MicroRNA regulating liver and kidney function. miR-194 MicroRNA regulating cell proliferation and differentiation. miR-199a MicroRNA regulating cardiac and tumor functions. miR-199b 9q34.11 MicroRNA regulating cell differentiation and oncogenesis. miR-200a 1p36.33 MicroRNA regulating epithelial-mesenchymal transition (EMT) and cancer. miR-200b 1p36.33 MicroRNA regulating epithelial-mesenchymal transition. miR-200c 12p13.31 MicroRNA regulating epithelial-mesenchymal transition. miR-206 6p12.2 MicroRNA regulating muscle development. miR-208 MicroRNA regulating cardiac function. miR-210 11p15.5 MicroRNA regulating hypoxia and angiogenesis. miR-212 17p13.3 MicroRNA regulating neural and metabolic functions. miR-214 1q24.3 MicroRNA regulating cell proliferation and apoptosis. miR-221 Xp11.3 MicroRNA regulating cell proliferation and differentiation. miR-222 Xp11.3 MicroRNA regulating cell proliferation and angiogenesis. miR-223 Xq12 MicroRNA regulating hematopoiesis and inflammation. miR-320a 8p21.3 MicroRNA regulating metabolism and cell proliferation. miR-320b MicroRNA regulating metabolism and cell proliferation. miR-320c MicroRNA regulating metabolism and cell proliferation. miR-320d MicroRNA regulating metabolism and cell proliferation. miR-320e 19q13.32 MicroRNA regulating metabolism and cell proliferation. miR-329 MicroRNA regulating neural development and oncogenesis. miR-337 14q32.2 MicroRNA regulating cell proliferation and apoptosis. miR-340 5q35.3 MicroRNA regulating cell proliferation and apoptosis. miR-361 Xq21.2 MicroRNA regulating cell proliferation and metabolism. miR-369 14q32.31 MicroRNA regulating cell proliferation and differentiation. miR-370 14q32.31 MicroRNA regulating lipid metabolism and oncogenesis. miR-378 5q32 MicroRNA regulating metabolism and oncogenesis. miR-382 14q32.31 MicroRNA regulating cell proliferation and differentiation. miR-410 14q32.31 MicroRNA regulating cell differentiation. miR-411 14q32.31 MicroRNA regulating cell proliferation and inflammation. miR-412 14q32.31 MicroRNA regulating cell proliferation. miR-424 Xq26.3 MicroRNA regulating cell proliferation and angiogenesis. miR-429 1p36.33 MicroRNA regulating epithelial-mesenchymal transition. miR-431 14q32.2 MicroRNA regulating neural development and oncogenesis. miR-432 14q32.2 MicroRNA regulating cell proliferation and apoptosis. miR-433 14q32.2 MicroRNA regulating neural development and osteogenesis. miR-434 MicroRNA regulating cell differentiation and apoptosis. miR-450a MicroRNA regulating cell proliferation and apoptosis. miR-450b Xq26.3 MicroRNA regulating cell proliferation and apoptosis. miR-450c MicroRNA regulating cell proliferation and apoptosis. miR-451a 17q11.2 MicroRNA regulating hematopoiesis and oncogenesis. miR-483 11p15.5 MicroRNA regulating metabolism and oncogenesis. miR-486 8p11.21 MicroRNA regulating hematopoiesis and oncogenesis. miR-487b 14q32.31 MicroRNA regulating cell proliferation and differentiation. miR-494 14q32.31 MicroRNA regulating cell proliferation and apoptosis. miR-495 14q32.31 MicroRNA regulating cell proliferation and differentiation. miR-497 17p13.1 MicroRNA regulating cell survival and proliferation. miR-499 20q11.22 MicroRNA regulating cardiac and muscle development. miR-503 Xq26.3 MicroRNA regulating cell proliferation and angiogenesis. miR-539 14q32.31 MicroRNA regulating cell proliferation and metastasis. miR-541 14q32.31 MicroRNA regulating cell proliferation and apoptosis. miR-543 14q32.31 MicroRNA regulating cell proliferation and metastasis. miR-544 14q32.31 MicroRNA regulating cell proliferation. miR-545 Xq13.2 MicroRNA regulating cell proliferation and differentiation. miR-550a MicroRNA regulating cell proliferation and metastasis. miR-550b MicroRNA regulating cell proliferation and metastasis. miR-561 2q32.1 MicroRNA regulating cell proliferation. miR-574 4p14 MicroRNA regulating cell proliferation and apoptosis. miR-652 Xq23 MicroRNA regulating cell proliferation and migration. miR-660 Xp11.23 MicroRNA regulating oncogenesis and immune response. miR-663a 20p11.1 MicroRNA regulating inflammation and oncogenesis. miR-663b 2q21.2 MicroRNA regulating cell proliferation and inflammation. miR-765 1q23.1 MicroRNA regulating cell proliferation and apoptosis. miR-766 Xq24 MicroRNA regulating cell proliferation and apoptosis. miR-877 6p21.33 MicroRNA regulating cell proliferation and apoptosis. miR-885 3p25.3 MicroRNA regulating cell proliferation and apoptosis. miR-891a Xq27.3 MicroRNA regulating cell proliferation and apoptosis. miR-892a Xq27.3 MicroRNA regulating cell proliferation and apoptosis. miR-939 8q24.3 MicroRNA regulating inflammation and oncogenesis. miR-941 MicroRNA regulating cell proliferation and differentiation. miR-942 1p13.1 MicroRNA regulating cell proliferation and apoptosis. miR-943 4p16.3 MicroRNA regulating cell proliferation and metastasis. miR-944 3q28 MicroRNA regulating cell proliferation. miR-950 MicroRNA regulating cell proliferation and apoptosis.

AR Xq12 Androgen receptor gene regulating male traits. BCL11A 2p16.1 Encodes the C2H2 zinc-finger transcription factor BCL11A that silences fetal gamma-globin (HBG1/HBG2) after birth; its erythroid enhancer is the target of the first approved CRISPR therapy Casgevy. CFST Calpastatin, an endogenous inhibitor of calpains. CREB1 2q33.3 Transcription factor regulating gene expression. DMD Xp21.2-p21.1 Dystrophin, supports muscle structure; linked to muscular dystrophy. ESR1 6q25.1-q25.2 Estrogen receptor 1, regulates gene expression via estrogen. FOXO1 13q14.11 Transcription factor regulating hepatic gluconeogenesis, adipocyte differentiation, vascular endothelial quiescence, and cellular stress resistance. FOXO3 6q21 Encodes the Forkhead box O3 transcription factor whose intronic enhancer variants are among the most consistently replicated genetic determinants of human longevity. FOXO4 Xq13.1 Encodes the X-linked Forkhead box O4 transcription factor that tethers p53 in the nucleus of senescent cells to prevent apoptosis; targeted by the FOXO4-DRI senolytic peptide. FOXO6 1p34.2 Encodes the fourth mammalian Forkhead box O transcription factor, which remains predominantly nuclear to regulate hippocampal memory consolidation and hepatic gluconeogenesis. FOXP3 Xp11.23 Transcription factor regulating immune tolerance. GR 5q31.3 Glucocorticoid receptor, regulates stress and metabolism. HDAC4 2q37.3 Encodes the signal-responsive Class IIa histone deacetylase 4 that shuttles between nucleus and cytoplasm to couple calcium and cAMP signaling to MEF2 and RUNX2 transcription. HIF1A 14q23.2 Encodes the oxygen-sensitive alpha subunit of hypoxia-inducible factor 1 (HIF-1), the master transcriptional regulator of cellular adaptation to hypoxia, angiogenesis, and glycolysis. HTN Histatin genes encoding salivary antimicrobial peptides. KEAP1 19p13.2 Encodes the cysteine-rich cytosolic redox sensor and Cullin-3 E3 ubiquitin ligase adaptor KEAP1 that gates NRF2 antioxidant signaling. Kinesin Motor protein genes involved in intracellular transport. KLF4 9q31.2 Transcription factor regulating cell differentiation. MYF5 12q21.31 Encodes Myf-5, the earliest-expressed myogenic regulatory factor specifying embryonic somitic myoblasts and marking the shared progenitor lineage of skeletal muscle and brown adipose tissue. MYF6 12q21.31 Encodes Myf-6 (MRF4 / herculin), the predominant myogenic regulatory factor expressed in mature adult skeletal muscle fibers. MYOD1 11p15.1 Encodes the pioneer basic helix-loop-helix transcription factor MyoD that commits mesodermal progenitors and satellite cells to the skeletal muscle lineage. MYOG 1q32.1 Encodes myogenin, the non-redundant basic helix-loop-helix transcription factor required for myoblast fusion into multinucleated skeletal muscle fibers. NANOG 12p13.31 Transcription factor maintaining pluripotency. NFE2L2 2q31.2 Encodes NRF2 (NFE2L2), the master cap-n-collar bZIP transcription factor that activates cellular antioxidant, glutathione, and xenobiotic detoxification genes upon release from KEAP1. NRF1 7q32.2 Encodes Nuclear Respiratory Factor 1, the transcription factor coactivated by PGC-1alpha to transcribe nuclear-encoded electron transport chain subunits and TFAM. OCT4 6p21.33 Transcription factor maintaining pluripotency. PAX6 11p13 Transcription factor regulating eye and neural development. PPARA 22q13.31 Encodes the nuclear receptor PPAR-alpha, the master transcriptional regulator of hepatic fatty acid oxidation, ketogenesis, and fasting FGF21 production. PPARD 6p21.31 Encodes the nuclear receptor PPAR-delta (PPAR-beta), which drives oxidative skeletal muscle fiber remodeling, fatty acid utilization, and endurance capacity. PPARG 3p25.2 Nuclear receptor regulating adipocyte differentiation, systemic insulin sensitivity, lipid storage, and anti-inflammatory macrophage polarization. PPARGC1A 4p15.2 Encodes PGC-1alpha, the inducible transcriptional coactivator that orchestrates mitochondrial biogenesis, oxidative phosphorylation, and adaptive thermogenesis. PRKAA2 1p32.2 Energy sensor kinase regulating cellular metabolism, mitochondrial biogenesis, autophagy, and mTORC1 inhibition. SIRT1 10q21.3 Sirtuin 1, NAD+-dependent nuclear deacetylase regulating cellular aging, mitochondrial biogenesis, circadian rhythm, and metabolism. SIRT2 19q13.2 Encodes the predominantly cytosolic NAD+-dependent deacetylase sirtuin 2 that regulates alpha-tubulin acetylation, oligodendrocyte myelination, and the mitotic checkpoint. SIRT3 11p15.5 Encodes the principal mitochondrial matrix NAD+-dependent deacetylase sirtuin 3 that activates oxidative metabolism, ketogenesis, and SOD2 antioxidant defense. SIRT4 12q24.31 Encodes the mitochondrial matrix sirtuin 4, which acts as a lipoamidase and ADP-ribosyltransferase restraining glutamate dehydrogenase, pyruvate dehydrogenase, and tumor glutaminolysis. SIRT5 6p23 Encodes the mitochondrial sirtuin 5 that removes negatively charged succinyl, malonyl, and glutaryl groups from metabolic and urea-cycle enzymes. SIRT6 19p13.3 Encodes the chromatin-bound sirtuin 6 that deacetylates histone H3 (H3K9ac, H3K56ac), promotes DNA double-strand break repair, silences LINE-1 retrotransposons, and extends mammalian lifespan. SIRT7 17q25.3 Encodes the nucleolar and chromatin-associated sirtuin 7 that deacetylates H3K18ac, stabilizes ribosomal DNA repeats, and promotes DNA repair. SMAD4 18q21.2 Transcription factor in TGF-beta and BMP signaling pathways; acts as the shared nuclear co-mediator and major pancreatic tumor suppressor. SOX2 3q26.33 Transcription factor maintaining pluripotency. STAT Transcription factors mediating cytokine signaling. TBP 6q27 TATA-box binding protein, initiates transcription. TFAM 10q21.1 Encodes mitochondrial transcription factor A, the nuclear-encoded HMG-box protein imported into mitochondria to package mitochondrial DNA into nucleoids and initiate mtDNA transcription and replication. VDR 12q13.11 Vitamin D receptor, nuclear receptor for vitamin D signaling. VEGFA 6p21.1 Vascular endothelial growth factor A, promotes angiogenesis, capillary density, and vascular permeability.