AutismKB 2.0

Annotation Details for HLA-E


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Basic Information Top
Gene Symbol:HLA-E ( DKFZp686P19218,EA1.2,EA2.1,HLA-6.2,MHC,QA1 )
Gene Full Name: major histocompatibility complex, class I, E
Band: 6p22.1
Quick LinksEntrez ID:3133; OMIM: 143010; Uniprot ID:HLAE_HUMAN; ENSEMBL ID: ENSG00000204592; HGNC ID: 4962
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0005886TAS-plasma membrane-
GO:0009986IDA-cell surface9754572
GO:0012507TAS-ER to Golgi transport vesicle membrane-
GO:0030670TAS-phagocytic vesicle membrane-
GO:0031901TAS-early endosome membrane-
GO:0032398IDA-MHC class Ib protein complex25631937
GO:0042612IDA-MHC class I protein complex12411439
GO:0055038TAS-recycling endosome membrane-
GO:0070062IDA-extracellular exosome20458337
GO:0071556TAS-integral component of lumenal side of endoplasmic reticulum membrane-
GO ID Evidence Qualifier GO_term References
GO:0005102IPI-receptor binding18448674
GO:0030881IDA-beta-2-microglobulin binding16474394
GO:0030881IMP-beta-2-microglobulin binding12411439
GO:0042288IDA-MHC class I protein binding9754572
GO:0042605IDA-peptide antigen binding9754572
GO:0042605IMP-peptide antigen binding12411439
GO:0042608IDA-T cell receptor binding16474394
GO:0046703IPI-natural killer cell lectin-like receptor binding25631937
GO ID Evidence Qualifier GO_term References
GO:0001916IDA-positive regulation of T cell mediated cytotoxicity25631937
GO:0002250IDA-adaptive immune response25631937
GO:0002474IBA-antigen processing and presentation of peptide antigen via MHC class I-
GO:0002474TAS-antigen processing and presentation of peptide antigen via MHC class I-
GO:0002476IDA-antigen processing and presentation of endogenous peptide antigen via MHC class Ib9754572
GO:0002479TAS-antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent-
GO:0002480TAS-antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent-
GO:0002715IDA-regulation of natural killer cell mediated immunity18448674
GO:0002717IDA-positive regulation of natural killer cell mediated immunity9754572
GO:0019731IDA-antibacterial humoral response25631937
GO:0032736IDA-positive regulation of interleukin-13 production25631937
GO:0032753IDA-positive regulation of interleukin-4 production25631937
GO:0032759IDA-positive regulation of TRAIL production25631937
GO:0032760IDA-positive regulation of tumor necrosis factor production25631937
GO:0036037IDA-CD8-positive, alpha-beta T cell activation25631937
GO:0042270IDA-protection from natural killer cell mediated cytotoxicity9754572
GO:0045087TAS-innate immune response-
GO:0050776TAS-regulation of immune response-
GO:0050830IDA-defense response to Gram-positive bacterium25631937
GO:0051024IDA-positive regulation of immunoglobulin secretion25631937
GO:0060333TAS-interferon-gamma-mediated signaling pathway-
GO:0060337TAS-type I interferon signaling pathway-
GO:2000566IDA-positive regulation of CD8-positive, alpha-beta T cell proliferation25631937
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HLA-EB2M1093789605335 Co-crystal Structure
HLA-EB2M1070449605335 Co-crystal Structure
KLRD1HLA-E1100239886400 Reconstituted Complex
KLRD1HLA-E1093789886400 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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