AutismKB 2.0

Annotation Details for TBC1D3B


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Basic Information Top
Gene Symbol:TBC1D3B ( FLJ78399,PRC17,TBC1D3I )
Gene Full Name: TBC1 domain family, member 3B
Band: 17q12
Quick LinksEntrez ID:414059; OMIM: 610144; Uniprot ID:TBC3A_HUMAN; ENSEMBL ID: ENSG00000224226; HGNC ID: 27011
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005622IBA-intracellular-
GO:0005886IEA-plasma membrane-
GO:0012505IBA-endomembrane system-
GO ID Evidence Qualifier GO_term References
GO:0005096IBA-GTPase activator activity-
GO:0017137IBA-Rab GTPase binding-
GO ID Evidence Qualifier GO_term References
GO:0006886IBA-intracellular protein transport-
GO:0031338IBA-regulation of vesicle fusion-
GO:0090630IBA-activation of GTPase activity-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top

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