Integral to 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
- 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
- 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
- ACVR1: activin A receptor, type I
- ACVRL1: activin A receptor type II-like 1
- ALK: anaplastic lymphoma receptor tyrosine kinase
- ANKH: ankylosis, progressive homolog (mouse)
- 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
- ATP7B: ATPase, Cu++ transporting, beta polypeptide
- ATP8B1: ATPase, aminophospholipid transporter, class I, type 8B, member 1
- AVPR2: arginine vasopressin receptor 2
- BEST1: bestrophin 1
- BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
- BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- BSND: Bartter syndrome, infantile, with sensorineural deafness (Barttin)
- 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
- 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 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
- 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
- FZD4: frizzled family receptor 4
- G6PC: glucose-6-phosphatase, catalytic subunit
- GABRA1: gamma-aminobutyric acid (GABA) A receptor, alpha 1
- 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
- GPC3: glypican 3
- GPR56: G protein-coupled receptor 56
- GUCY2D: guanylate cyclase 2D, membrane (retina-specific)
- HFE: hemochromatosis
- HLA-B: major histocompatibility complex, class I, B
- 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
- ITM2B: integral membrane protein 2B
- JAG1: jagged 1
- JPH3: junctophilin 3
- KCNE1: potassium voltage-gated channel, Isk-related family, member 1
- 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
- KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1
- KL: klotho
- L2HGDH: L-2-hydroxyglutarate dehydrogenase
- LBR: lamin B receptor
- LCT: lactase
- LDLR: low density lipoprotein receptor
- LHCGR: luteinizing hormone/choriogonadotropin receptor
- MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
- MCOLN1: mucolipin 1
- MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
- MPL: myeloproliferative leukemia virus oncogene
- MPZ: myelin protein zero
- MYH9: myosin, heavy chain 9, non-muscle
- NCF1: neutrophil cytosolic factor 1
- NCF2: neutrophil cytosolic factor 2
- NCF4: neutrophil cytosolic factor 4, 40kDa
- NOTCH2: notch 2
- NPC1: Niemann-Pick disease, type C1
- NTRK1: neurotrophic tyrosine kinase, receptor, type 1
- OPN1LW: opsin 1 (cone pigments), long-wave-sensitive
- OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive
- OPN1SW: opsin 1 (cone pigments), short-wave-sensitive
- PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
- PHEX: phosphate regulating endopeptidase homolog, X-linked
- PKD1: polycystic kidney disease 1 (autosomal dominant)
- PKD2: polycystic kidney disease 2 (autosomal dominant)
- PKP2: plakophilin 2
- PRF1: perforin 1 (pore forming protein)
- PSAP: prosaposin
- PSEN1: presenilin 1
- PSEN2: presenilin 2 (Alzheimer disease 4)
- 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
- SCN1A: sodium channel, voltage-gated, type I, alpha subunit
- SCN4A: sodium channel, voltage-gated, type IV, alpha subunit
- SCN5A: sodium channel, voltage-gated, type V, alpha 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 transporters), member 3
- SLC12A6: solute carrier family 12 (potassium/chloride transporters), member 6
- SLC16A2: solute carrier family 16, member 2 (thyroid hormone transporter)
- SLC17A5: solute carrier family 17 (anion/sugar transporter), member 5
- SLC19A2: solute carrier family 19 (thiamine transporter), member 2
- SLC20A2: solute carrier family 20 (phosphate transporter), member 2
- SLC25A13: solute carrier family 25 (aspartate/glutamate carrier), member 13
- SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
- SLC26A2: solute carrier family 26 (sulfate transporter), member 2
- SLC2A10: solute carrier family 2 (facilitated glucose transporter), member 10
- SLC37A4: solute carrier family 37 (glucose-6-phosphate transporter), member 4
- SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
- SLC52A3: solute carrier family 52, riboflavin transporter, member 3
- SLC5A1: solute carrier family 5 (sodium/glucose cotransporter), member 1
- SLC6A8: solute carrier family 6 (neurotransmitter transporter, creatine), member 8
- SLC7A7: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
- SLC7A9: solute carrier family 7 (glycoprotein-associated 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
- 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)
- TMPRSS3: transmembrane protease, serine 3
- TNFRSF1A: tumor necrosis factor receptor superfamily, member 1A
- TPO: thyroid peroxidase
- TRPV4: transient receptor potential cation channel, subfamily V, member 4
- TSHR: thyroid stimulating hormone receptor
- TYROBP: TYRO protein tyrosine kinase binding protein
- WFS1: Wolfram syndrome 1 (wolframin)
- XK: X-linked Kx blood group (McLeod syndrome)
Source: Gene Ontology Consortium
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