AutismKB 2.0

Annotation Details for HLA-DQB1


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Basic Information Top
Gene Symbol:HLA-DQB1 ( CELIAC1,HLA-DQB,IDDM1 )
Gene Full Name: major histocompatibility complex, class II, DQ beta 1
Band: 6p21.32
Quick LinksEntrez ID:3119; OMIM: 604305; Uniprot ID:DQB1_HUMAN; ENSEMBL ID: ENSG00000179344; HGNC ID: 4944
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0005765TAS-lysosomal membrane-
GO:0005886TAS-plasma membrane-
GO:0010008IEA-endosome membrane-
GO:0012507TAS-ER to Golgi transport vesicle membrane-
GO:0016020IDA-membrane19946888
GO:0016020NAS-membrane2998758
GO:0030658TAS-transport vesicle membrane-
GO:0030666TAS-endocytic vesicle membrane-
GO:0030669TAS-clathrin-coated endocytic vesicle membrane-
GO:0032588TAS-trans-Golgi network membrane-
GO:0042613ISS-MHC class II protein complex20356827
GO:0071556TAS-integral component of lumenal side of endoplasmic reticulum membrane-
GO ID Evidence Qualifier GO_term References
GO:0032395NAS-MHC class II receptor activity2998758
GO:0042605ISS-peptide antigen binding20356827
GO ID Evidence Qualifier GO_term References
GO:0002381IDA-immunoglobulin production involved in immunoglobulin mediated immune response17050030
GO:0002455IDA-humoral immune response mediated by circulating immunoglobulin17050030
GO:0006955NAS-immune response2998758
GO:0019886TAS-antigen processing and presentation of exogenous peptide antigen via MHC class II-
GO:0031295TAS-T cell costimulation-
GO:0050852TAS-T cell receptor signaling pathway-
GO:0060333TAS-interferon-gamma-mediated signaling pathway-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
HLA-DQB1HLA-DQB1 Gene overview in PDGene
No data
Animal Model Top
No data
No data

Simple Query:


  (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