AutismKB 2.0

Annotation Details for SH2D1B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SH2D1B ( EAT2 )
Gene Full Name: SH2 domain containing 1B
Band: 1q23.3
Quick LinksEntrez ID:117157; OMIM: 608510; Uniprot ID:SH21B_HUMAN; ENSEMBL ID: ENSG00000198574; HGNC ID: 30416
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005622IDA-intracellular16920955
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding12928397
GO:0030674TAS-protein binding, bridging16425036
GO ID Evidence Qualifier GO_term References
GO:0002250IEA-adaptive immune response-
GO:0002366ISS-leukocyte activation involved in immune response-
GO:0002717ISS-positive regulation of natural killer cell mediated immunity-
GO:0045087IEA-innate immune response-
GO:0045089ISS-positive regulation of innate immune response-
GO:0050776TAS-regulation of immune response-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SH2D1BSLAMF111239511689425 Protein-peptide; Two-hybrid
SH2D1BSLAMF112556311689425 Protein-peptide; Two-hybrid
SH2D1BCD8411435912115647 Affinity Capture-Western
SH2D1BCD8412556312115647 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
SH2D1Brs164123, rs164126, rs164128, rs3121196, rs351453 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1349420
  • 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved