AutismKB 2.0

Annotation Details for TBC1D4


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Basic Information Top
Gene Symbol:TBC1D4 ( AS160,DKFZp779C0666 )
Gene Full Name: TBC1 domain family, member 4
Band: 13q22.2
Quick LinksEntrez ID:9882; OMIM: 612465; Uniprot ID:TBCD4_HUMAN; ENSEMBL ID: ENSG00000136111; HGNC ID: 19165
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005622IBA-intracellular-
GO:0005829IDA-cytosol-
GO:0012505IBA-endomembrane system-
GO:0030659TAS-cytoplasmic vesicle membrane-
GO:0070062IDA-extracellular exosome23376485
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:0016192IMP-vesicle-mediated transport22908308
GO:0031338IBA-regulation of vesicle fusion-
GO:0031339IEA-negative regulation of vesicle fusion-
GO:0032869IMP-cellular response to insulin stimulus22908308
GO:0061024TAS-membrane organization-
GO:0090630IBA-activation of GTPase activity-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TBC1D4PIN111131716055720 Affinity Capture-MS
TBC1D4PIN111521316055720 Affinity Capture-MS
DNPEPTBC1D411709317353931 Affinity Capture-MS
DNPEPTBC1D411521317353931 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2429660
  • 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