AutismKB 2.0

Annotation Details for HLA-DRB1


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Basic Information Top
Gene Symbol:HLA-DRB1 ( DRB1,DRw10,FLJ75017,FLJ76359,HLA-DR1B,HLA-DRB,HLA-DRB1*,SS1 )
Gene Full Name: major histocompatibility complex, class II, DR beta 1
Band: 6p21.32
Quick LinksEntrez ID:3123; OMIM: 142857; Uniprot ID:2B1F_HUMAN; ENSEMBL ID: ENSG00000196126; HGNC ID: 4948
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0005765IDA-lysosomal membrane18305173
GO:0005765TAS-lysosomal membrane-
GO:0005886TAS-plasma membrane-
GO:0009986IDA-cell surface21502329
GO:0012507TAS-ER to Golgi transport vesicle membrane-
GO:0016020IDA-membrane19946888
GO:0030658TAS-transport vesicle membrane-
GO:0030666TAS-endocytic vesicle membrane-
GO:0030669TAS-clathrin-coated endocytic vesicle membrane-
GO:0031902IDA-late endosome membrane18305173
GO:0032588TAS-trans-Golgi network membrane-
GO:0042613IDA-MHC class II protein complex21502329
GO:0070062IDA-extracellular exosome12519789
GO:0071556TAS-integral component of lumenal side of endoplasmic reticulum membrane-
GO ID Evidence Qualifier GO_term References
GO:0023026IDA-MHC class II protein complex binding20458337
GO:0042605IDA-peptide antigen binding21502329
GO ID Evidence Qualifier GO_term References
GO:0002506IDA-polysaccharide assembly with MHC class II protein complex21502329
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
Gene Symbol Interactant Interaction ID References Description
HLA-DRB1HLA-DMA1093689371817 Reconstituted Complex
HLA-DRB1HLA-DMA1093539371817 Reconstituted Complex
TRA@HLA-DRB111281511877480 Co-crystal Structure
TRA@HLA-DRB110936811877480 Co-crystal Structure
No data
No data
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
HLA-DRB1HLA-DRB1 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:95901
  • Data Attributes: MGI curated and HomoloGene calculated
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


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