AutismKB 2.0

Annotation Details for HLA-B


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Basic Information Top
Gene Symbol:HLA-B ( AS,HLA-B27,HLA-B73,HLAB,MGC111087,SPDA1 )
Gene Full Name: major histocompatibility complex, class I, B
Band: 6p21.33
Quick LinksEntrez ID:3106; OMIM: 142830; Uniprot ID:1B07_HUMAN; ENSEMBL ID: ENSG00000234745; HGNC ID: 4932
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0005783ISS-endoplasmic reticulum-
GO:0005794ISS-Golgi apparatus-
GO:0005886IBA-plasma membrane-
GO:0005886TAS-plasma membrane-
GO:0009986ISS-cell surface-
GO:0012507TAS-ER to Golgi transport vesicle membrane-
GO:0030670TAS-phagocytic vesicle membrane-
GO:0031901TAS-early endosome membrane-
GO:0042612ISS-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:0005515IPI-protein binding18322206
GO:0042605IBA-peptide antigen binding-
GO:0042605ISS-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:0016032IEA-viral process-
GO:0050776TAS-regulation of immune response-
GO:0060333TAS-interferon-gamma-mediated signaling pathway-
GO:0060337TAS-type I interferon signaling pathway-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HLA-BAHCY10669617353931 Affinity Capture-MS
HLA-BAHCY10935117353931 Affinity Capture-MS
HLA-BCD8A10736310809759 Reconstituted Complex
HLA-BCD8A10935110809759 Reconstituted Complex
KIR3DS1HLA-B30683112134147 Phenotypic Enhancement
KIR3DS1HLA-B10935112134147 Phenotypic Enhancement
LILRB2HLA-B10935112853576 Reconstituted Complex
LILRB2HLA-B11557712853576 Reconstituted Complex
LILRB1HLA-B11607012853576 Reconstituted Complex
LILRB1HLA-B10935112853576 Reconstituted Complex
TRIM28HLA-B11545717353931 Affinity Capture-MS
TRIM28HLA-B10935117353931 Affinity Capture-MS
PAICSHLA-B11585217353931 Affinity Capture-MS
PAICSHLA-B10935117353931 Affinity Capture-MS
MSNHLA-B11058417353931 Affinity Capture-MS
MSNHLA-B10935117353931 Affinity Capture-MS
PFASHLA-B11122117353931 Affinity Capture-MS
PFASHLA-B10935117353931 Affinity Capture-MS
PLS3HLA-B10935117353931 Affinity Capture-MS
PLS3HLA-B11137217353931 Affinity Capture-MS
PSMD1HLA-B11168017353931 Affinity Capture-MS
PSMD1HLA-B10935117353931 Affinity Capture-MS
TARSHLA-B11276017353931 Affinity Capture-MS
TARSHLA-B10935117353931 Affinity Capture-MS
VARSHLA-B11325017353931 Affinity Capture-MS
VARSHLA-B10935117353931 Affinity Capture-MS
VCPHLA-B11325817353931 Affinity Capture-MS
VCPHLA-B10935117353931 Affinity Capture-MS
EZRHLA-B11327117353931 Affinity Capture-MS
EZRHLA-B10935117353931 Affinity Capture-MS
RUVBL1HLA-B11416617353931 Affinity Capture-MS
RUVBL1HLA-B10935117353931 Affinity Capture-MS
TRIB3HLA-B12175618276110 Two-hybrid
TRIB3HLA-B10935118276110 Two-hybrid
ARHGEF4HLA-B11911420936779 Two-hybrid
ARHGEF4HLA-B10935120936779 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
HLA-BHLA-B Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:95928
  • Data Attributes: HomoloGene calculated
No data
No data

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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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