Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®

Intrinsic component of membrane

Intrinsic component of membrane

  • AAAS: achalasia, adrenocortical insufficiency, alacrimia
  • ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
  • ABCA12: ATP-binding cassette, sub-family A (ABC1), member 12
  • ABCA3: ATP-binding cassette, sub-family A (ABC1), member 3
  • ABCB11: ATP-binding cassette, sub-family B (MDR/TAP), member 11
  • ABCB4: ATP-binding cassette, sub-family B (MDR/TAP), member 4
  • ABCB7: ATP-binding cassette, sub-family B (MDR/TAP), member 7
  • ABCC2: ATP-binding cassette, sub-family C (CFTR/MRP), member 2
  • ABCC8: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
  • ABCC9: ATP-binding cassette, sub-family C (CFTR/MRP), member 9
  • ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
  • ACP5: acid phosphatase 5, tartrate resistant
  • ACVR1: activin A receptor, type I
  • ACVRL1: activin A receptor type II-like 1
  • AGTR1: angiotensin II receptor, type 1
  • ALK: anaplastic lymphoma receptor tyrosine kinase
  • ANKH: ANKH inorganic pyrophosphate transport regulator
  • APP: amyloid beta (A4) precursor protein
  • ATL1: atlastin GTPase 1
  • ATP1A2: ATPase, Na+/K+ transporting, alpha 2 polypeptide
  • ATP1A3: ATPase, Na+/K+ transporting, alpha 3 polypeptide
  • ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
  • ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
  • ATP2C1: ATPase, Ca++ transporting, type 2C, member 1
  • ATP7B: ATPase, Cu++ transporting, beta polypeptide
  • ATP8B1: ATPase, aminophospholipid transporter, class I, type 8B, member 1
  • AVPR2: arginine vasopressin receptor 2
  • BCS1L: BC1 (ubiquinol-cytochrome c reductase) synthesis-like
  • BEST1: bestrophin 1
  • BMPR1A: bone morphogenetic protein receptor, type IA
  • BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
  • BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
  • BSND: barttin CLCNK-type chloride channel accessory beta subunit
  • CA12: carbonic anhydrase XII
  • CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
  • CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
  • CACNA1F: calcium channel, voltage-dependent, L type, alpha 1F subunit
  • CACNA1S: calcium channel, voltage-dependent, L type, alpha 1S subunit
  • CACNB4: calcium channel, voltage-dependent, beta 4 subunit
  • CASQ2: calsequestrin 2 (cardiac muscle)
  • CASR: calcium-sensing receptor
  • CATSPER1: cation channel, sperm associated 1
  • CATSPER2: cation channel, sperm associated 2
  • CD40LG: CD40 ligand
  • CDH1: cadherin 1, type 1, E-cadherin (epithelial)
  • CHRNA2: cholinergic receptor, nicotinic, alpha 2 (neuronal)
  • CHRNA4: cholinergic receptor, nicotinic, alpha 4 (neuronal)
  • CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
  • CHRNE: cholinergic receptor, nicotinic, epsilon (muscle)
  • CHRNG: cholinergic receptor, nicotinic, gamma (muscle)
  • CLCN1: chloride channel, voltage-sensitive 1
  • CLCN5: chloride channel, voltage-sensitive 5
  • CLCNKA: chloride channel, voltage-sensitive Ka
  • CLCNKB: chloride channel, voltage-sensitive Kb
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CLN5: ceroid-lipofuscinosis, neuronal 5
  • CLN6: ceroid-lipofuscinosis, neuronal 6, late infantile, variant
  • CLN8: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
  • CNGA3: cyclic nucleotide gated channel alpha 3
  • CNGB3: cyclic nucleotide gated channel beta 3
  • COL17A1: collagen, type XVII, alpha 1
  • CPT1A: carnitine palmitoyltransferase 1A (liver)
  • CSF1R: colony stimulating factor 1 receptor
  • CYBA: cytochrome b-245, alpha polypeptide
  • CYBB: cytochrome b-245, beta polypeptide
  • DLL3: delta-like 3 (Drosophila)
  • DMPK: dystrophia myotonica-protein kinase
  • DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
  • DRD3: dopamine receptor D3
  • DRD5: dopamine receptor D5
  • EBP: emopamil binding protein (sterol isomerase)
  • EDA: ectodysplasin A
  • EDAR: ectodysplasin A receptor
  • EDNRB: endothelin receptor type B
  • ELOVL4: ELOVL fatty acid elongase 4
  • ENG: endoglin
  • EPOR: erythropoietin receptor
  • ERAP1: endoplasmic reticulum aminopeptidase 1
  • ERBB2: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2
  • ETFDH: electron-transferring-flavoprotein dehydrogenase
  • EXT1: exostosin glycosyltransferase 1
  • FGFR1: fibroblast growth factor receptor 1
  • FGFR2: fibroblast growth factor receptor 2
  • FGFR3: fibroblast growth factor receptor 3
  • FGFR4: fibroblast growth factor receptor 4
  • FLNB: filamin B, beta
  • FLT3: fms-related tyrosine kinase 3
  • FLT4: fms-related tyrosine kinase 4
  • FOLR1: folate receptor 1 (adult)
  • FZD4: frizzled class receptor 4
  • G6PC: glucose-6-phosphatase, catalytic subunit
  • GABRA1: gamma-aminobutyric acid (GABA) A receptor, alpha 1
  • GALNT3: polypeptide N-acetylgalactosaminyltransferase 3
  • GDAP1: ganglioside induced differentiation associated protein 1
  • GHRHR: growth hormone releasing hormone receptor
  • GJA1: gap junction protein, alpha 1, 43kDa
  • GLRA1: glycine receptor, alpha 1
  • GNAS: GNAS complex locus
  • GPC3: glypican 3
  • GPR143: G protein-coupled receptor 143
  • GPR56: G protein-coupled receptor 56
  • GPR98: G protein-coupled receptor 98
  • GRM6: glutamate receptor, metabotropic 6
  • GUCY2D: guanylate cyclase 2D, membrane (retina-specific)
  • HCN4: hyperpolarization activated cyclic nucleotide-gated potassium channel 4
  • HFE: hemochromatosis
  • HLA-B: major histocompatibility complex, class I, B
  • HLA-DPB1: major histocompatibility complex, class II, DP beta 1
  • HLA-DQA1: major histocompatibility complex, class II, DQ alpha 1
  • HLA-DQB1: major histocompatibility complex, class II, DQ beta 1
  • HLA-DRB1: major histocompatibility complex, class II, DR beta 1
  • HPS1: Hermansky-Pudlak syndrome 1
  • HSD3B2: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
  • IL23R: interleukin 23 receptor
  • IL2RG: interleukin 2 receptor, gamma
  • ITGB2: integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
  • ITGB4: integrin, beta 4
  • ITM2B: integral membrane protein 2B
  • JAG1: jagged 1
  • JPH3: junctophilin 3
  • KCNA1: potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
  • KCNE1: potassium voltage-gated channel, Isk-related family, member 1
  • KCNE2: potassium voltage-gated channel, Isk-related family, member 2
  • KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2
  • KCNJ1: potassium inwardly-rectifying channel, subfamily J, member 1
  • KCNJ11: potassium inwardly-rectifying channel, subfamily J, member 11
  • KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2
  • KCNJ5: potassium inwardly-rectifying channel, subfamily J, member 5
  • KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1
  • KCNQ2: potassium voltage-gated channel, KQT-like subfamily, member 2
  • KCNQ3: potassium voltage-gated channel, KQT-like subfamily, member 3
  • KCNT1: potassium channel, subfamily T, member 1
  • KL: klotho
  • L2HGDH: L-2-hydroxyglutarate dehydrogenase
  • LARGE: like-glycosyltransferase
  • LBR: lamin B receptor
  • LCT: lactase
  • LDLR: low density lipoprotein receptor
  • LEMD3: LEM domain containing 3
  • LHCGR: luteinizing hormone/choriogonadotropin receptor
  • MAGT1: magnesium transporter 1
  • MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
  • MCOLN1: mucolipin 1
  • MFN2: mitofusin 2
  • MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
  • MMP14: matrix metallopeptidase 14 (membrane-inserted)
  • MPL: MPL proto-oncogene, thrombopoietin receptor
  • MPZ: myelin protein zero
  • MT-CYB: mitochondrially encoded cytochrome b
  • MUC1: mucin 1, cell surface associated
  • MYH9: myosin, heavy chain 9, non-muscle
  • NCF1: neutrophil cytosolic factor 1
  • NCF2: neutrophil cytosolic factor 2
  • NCF4: neutrophil cytosolic factor 4, 40kDa
  • NCSTN: nicastrin
  • NF1: neurofibromin 1
  • NOTCH2: notch 2
  • NPC1: Niemann-Pick disease, type C1
  • NTRK1: neurotrophic tyrosine kinase, receptor, type 1
  • OCA2: oculocutaneous albinism II
  • OPN1LW: opsin 1 (cone pigments), long-wave-sensitive
  • OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive
  • OPN1SW: opsin 1 (cone pigments), short-wave-sensitive
  • OTOF: otoferlin
  • PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
  • PDGFRB: platelet-derived growth factor receptor, beta polypeptide
  • PGAP2: post-GPI attachment to proteins 2
  • PHEX: phosphate regulating endopeptidase homolog, X-linked
  • PIGV: phosphatidylinositol glycan anchor biosynthesis, class V
  • PINK1: PTEN induced putative kinase 1
  • PKD1: polycystic kidney disease 1 (autosomal dominant)
  • PKD2: polycystic kidney disease 2 (autosomal dominant)
  • PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
  • PKP2: plakophilin 2
  • POMT1: protein-O-mannosyltransferase 1
  • PPOX: protoporphyrinogen oxidase
  • PRF1: perforin 1 (pore forming protein)
  • PRPH2: peripherin 2 (retinal degeneration, slow)
  • PSAP: prosaposin
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2
  • PSENEN: presenilin enhancer gamma secretase subunit
  • RASA1: RAS p21 protein activator (GTPase activating protein) 1
  • RET: ret proto-oncogene
  • RHO: rhodopsin
  • ROBO3: roundabout, axon guidance receptor, homolog 3 (Drosophila)
  • ROR2: receptor tyrosine kinase-like orphan receptor 2
  • RYR1: ryanodine receptor 1 (skeletal)
  • RYR2: ryanodine receptor 2 (cardiac)
  • SCN10A: sodium channel, voltage-gated, type X, alpha subunit
  • SCN4A: sodium channel, voltage-gated, type IV, alpha subunit
  • SCN5A: sodium channel, voltage-gated, type V, alpha subunit
  • SCNN1A: sodium channel, non-voltage-gated 1 alpha subunit
  • SCNN1B: sodium channel, non-voltage-gated 1, beta subunit
  • SCNN1G: sodium channel, non-voltage-gated 1, gamma subunit
  • SDHC: succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
  • SGCB: sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
  • SGCE: sarcoglycan, epsilon
  • SLC12A3: solute carrier family 12 (sodium/chloride transporter), member 3
  • SLC12A6: solute carrier family 12 (potassium/chloride transporter), member 6
  • SLC16A2: solute carrier family 16, member 2 (thyroid hormone transporter)
  • SLC17A5: solute carrier family 17 (acidic sugar transporter), member 5
  • SLC19A2: solute carrier family 19 (thiamine transporter), member 2
  • SLC19A3: solute carrier family 19 (thiamine transporter), member 3
  • SLC20A2: solute carrier family 20 (phosphate transporter), member 2
  • SLC25A13: solute carrier family 25 (aspartate/glutamate carrier), member 13
  • SLC25A15: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
  • SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
  • SLC26A2: solute carrier family 26 (anion exchanger), member 2
  • SLC26A4: solute carrier family 26 (anion exchanger), member 4
  • SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
  • SLC2A10: solute carrier family 2 (facilitated glucose transporter), member 10
  • SLC37A4: solute carrier family 37 (glucose-6-phosphate transporter), member 4
  • SLC3A1: solute carrier family 3 (amino acid transporter heavy chain), member 1
  • SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
  • SLC4A1: solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
  • SLC52A3: solute carrier family 52 (riboflavin transporter), member 3
  • SLC5A1: solute carrier family 5 (sodium/glucose cotransporter), member 1
  • SLC5A5: solute carrier family 5 (sodium/iodide cotransporter), member 5
  • SLC6A8: solute carrier family 6 (neurotransmitter transporter), member 8
  • SLC7A7: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
  • SLC7A9: solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
  • SLCO1B1: solute carrier organic anion transporter family, member 1B1
  • SLCO1B3: solute carrier organic anion transporter family, member 1B3
  • ST3GAL5: ST3 beta-galactoside alpha-2,3-sialyltransferase 5
  • STIM1: stromal interaction molecule 1
  • SYNE1: spectrin repeat containing, nuclear envelope 1
  • TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
  • TEK: TEK tyrosine kinase, endothelial
  • TFR2: transferrin receptor 2
  • TGFBR1: transforming growth factor, beta receptor 1
  • TGFBR2: transforming growth factor, beta receptor II (70/80kDa)
  • TGM1: transglutaminase 1
  • TMPRSS3: transmembrane protease, serine 3
  • TMPRSS6: transmembrane protease, serine 6
  • TNFRSF13B: tumor necrosis factor receptor superfamily, member 13B
  • TNFRSF1A: tumor necrosis factor receptor superfamily, member 1A
  • TPO: thyroid peroxidase
  • TREM2: triggering receptor expressed on myeloid cells 2
  • TRPM1: transient receptor potential cation channel, subfamily M, member 1
  • TRPV4: transient receptor potential cation channel, subfamily V, member 4
  • TSHR: thyroid stimulating hormone receptor
  • TYROBP: TYRO protein tyrosine kinase binding protein
  • UMOD: uromodulin
  • WFS1: Wolfram syndrome 1 (wolframin)
  • XK: X-linked Kx blood group

Source: Gene Ontology ConsortiumThis link leads to a site outside Genetics Home Reference..

 
Published: September 15, 2014