AutismKB 2.0

Annotation Details for SH2D2A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SH2D2A ( F2771,SCAP,TSAD,VRAP )
Gene Full Name: SH2 domain containing 2A
Band: 1q23.1
Quick LinksEntrez ID:9047; OMIM: 604514; Uniprot ID:SH22A_HUMAN; ENSEMBL ID: ENSG00000027869; HGNC ID: 10821
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737TAS-cytoplasm9468509
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0005070TAS-SH3/SH2 adaptor activity9468509
GO:0005515IPI-protein binding10553045
GO:0017124IEA-SH3 domain binding-
GO ID Evidence Qualifier GO_term References
GO:0001525IEA-angiogenesis-
GO:0007165TAS-signal transduction9468509
GO:0008283IEA-cell proliferation-
GO:0009967IEA-positive regulation of signal transduction-
GO:0030154IEA-cell differentiation-
GO:0048010TAS-vascular endothelial growth factor receptor signaling pathway-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MAP3K2SH2D2A11596911073940 Affinity Capture-Western; Two-hybrid
MAP3K2SH2D2A11450911073940 Affinity Capture-Western; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1351596
  • 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