AutismKB 2.0

Annotation Details for HLA-H


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Basic Information Top
Gene Symbol:HLA-H ( HLAHP )
Gene Full Name: major histocompatibility complex, class I, H (pseudogene)
Band: 6p22.1
Quick LinksEntrez ID:3136; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 4965
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0005886IBA-plasma membrane-
GO:0005886TAS-plasma membrane-
GO:0005887NAS-integral component of plasma membrane6461010
GO:0009986IMP-cell surface9162021
GO:0012507TAS-ER to Golgi transport vesicle membrane-
GO:0030670TAS-phagocytic vesicle membrane-
GO:0031901TAS-early endosome membrane-
GO:0035577TAS-azurophil granule membrane-
GO:0042612IEA-MHC class I protein complex-
GO:0055038TAS-recycling endosome membrane-
GO:0071556TAS-integral component of lumenal side of endoplasmic reticulum membrane-
GO ID Evidence Qualifier GO_term References
GO:0005102IBA-receptor binding-
GO:0030881IMP-beta-2-microglobulin binding9162021
GO:0042605IBA-peptide antigen binding-
GO ID Evidence Qualifier GO_term References
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: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:0006955NAS-immune response6461010
GO:0043312TAS-neutrophil degranulation-
GO:0050776TAS-regulation of immune response-
GO:0060333TAS-interferon-gamma-mediated signaling pathway-
GO:0060337TAS-type I interferon signaling pathway-
Protein-Protein Interaction Top
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