ENSG00000206503
Homo sapiens | |
Features
| Gene ID: | ENSG00000206503 | | | | | Biological name : | HLA-A | | | | | Synonyms : | HLA-A / major histocompatibility complex, class I, A / P04439 / P13746 / P16188 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | 1 | | Band: | p22.1 | | Gene start: | 29941260 | | Gene end: | 29945884 | | | | | Corresponding Affymetrix probe sets: | 213932_x_at (Human Genome U133 Plus 2.0 Array) 215313_x_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000366005
Ensembl peptide - ENSP00000492789
Ensembl peptide - ENSP00000379873
Ensembl peptide - ENSP00000365998
Ensembl peptide - ENSP00000366002
NCBI entrez gene - 3105
See in Manteia.
OMIM - 142800
RefSeq - NM_002116
RefSeq Peptide - NP_002107
swissprot - P04439
swissprot - P13746
swissprot - P16188
swissprot - Q5SRN5
swissprot - B1PKY1
swissprot - Q5SRN7
swissprot - A0A1W2PS24
Ensembl - ENSG00000206503
| | | | | Related genetic diseases (OMIM): | 608579 - {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
| HLA-B / P30480 / P30486 / Q29836 / Q31610 / Q31612 / P01889 / major histocompatibility complex, class I, B | ENSG00000234745 | 85 | | HLA-C / P10321 / major histocompatibility complex, class I, C | ENSG00000204525 | 81 | | HLA-F / P30511 / major histocompatibility complex, class I, F | ENSG00000204642 | 78 | | HLA-E / major histocompatibility complex, class I, E | ENSG00000204592 | 77 | | HLA-G / P17693 / major histocompatibility complex, class I, G | ENSG00000204632 | 77 |
Protein motifs (from Interpro)
| IPR001039 | MHC class I alpha chain, alpha1 alpha2 domains | | IPR003006 | Immunoglobulin/major histocompatibility complex, conserved site | | IPR003597 | Immunoglobulin C1-set | | IPR007110 | Immunoglobulin-like domain | | IPR010579 | MHC class I, alpha chain, C-terminal | | IPR011161 | MHC class I-like antigen recognition-like | | IPR011162 | MHC classes I/II-like antigen recognition protein | | IPR013783 | Immunoglobulin-like fold | | IPR021157 | Cytochrome c1, transmembrane anchor, C-terminal | | IPR036179 | Immunoglobulin-like domain superfamily | | IPR037055 | MHC class I-like antigen recognition-like superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| | HP:0000532 | Chorioretinal abnormality | |
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| | HP:0000541 | Detached retina | |
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| | HP:0000543 | Pale optic disks | |
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| | HP:0000572 | Visual loss | |
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| | HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
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| | HP:0000622 | Blurred vision | |
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| | HP:0007843 | Attenuation of retinal blood vessels | |
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| | HP:0007906 | Increased intraocular pressure | |
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| | HP:0011505 | Cystoid macular edema | "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." [DDD:ncarter] |
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| | HP:0011506 | Choroidal neovascularization of the macula | "Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye." [DDD:ncarter] |
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| | HP:0011508 | Macular hole | "A macular hole is a small break in the macula, located in the center of the retina." [DDD:ncarter] |
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| | HP:0011531 | Vitreitis | "Inflammation of the vitreous body." [HPO:probinson] |
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| | HP:0030329 | Retinal thinning | "Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT)." [HPO:probinson] |
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| | HP:0030530 | Arcuate scotoma | |
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| | HP:0030609 | Photoreceptor layer loss on macular OCT | "Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography." [HPO:probinson] |
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| | HP:0030644 | Blind-spot enlargment | |
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| | HP:0100014 | Epiretinal membrane | "An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy." [HPO:sdoelken] |
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| | HP:0100533 | Inflammatory abnormality of the eye | "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken] |
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| | HP:0100832 | Mouches volantes | "Deposits of various size, shape, consistency, refractive index, and motility within the eye s vitreous humour, which is normally transparent." [HPO:sdoelken] |
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| | HP:0200056 | Macular scarring | |
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Interacting proteins (from Reactome)
| ENSG00000240403 | P43630 / KIR3DL2 / killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 | / complex / reaction | | ENSG00000166710 | B2M / P61769 / beta-2-microglobulin | / complex |
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