AutismKB 2.0

Annotation Details for TBC1D2B


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Basic Information Top
Gene Symbol:TBC1D2B ( FLJ20166,KIAA1055 )
Gene Full Name: TBC1 domain family, member 2B
Band: 15q24.3-q25.1
Quick LinksEntrez ID:23102; OMIM: NA; Uniprot ID:TBD2B_HUMAN; ENSEMBL ID: ENSG00000167202; HGNC ID: 29183
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005622IBA-intracellular-
GO:0012505IBA-endomembrane system-
GO ID Evidence Qualifier GO_term References
GO:0005096IBA-GTPase activator activity-
GO:0005515IPI-protein binding20562859
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-
GO:1902017IMPNOTregulation of cilium assembly17646400
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
GABARAPL1TBC1D2B11722320562859 Affinity Capture-MS
GABARAPL1TBC1D2B11672920562859 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1914266
  • Data Attributes: 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