AutismKB 2.0

Annotation Details for RABEP2


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Basic Information Top
Gene Symbol:RABEP2 ( FLJ23282,FRA )
Gene Full Name: rabaptin, RAB GTPase binding effector protein 2
Band: 16p11.2
Quick LinksEntrez ID:79874; OMIM: 611869; Uniprot ID:RABE2_HUMAN; ENSEMBL ID: ENSG00000177548; HGNC ID: 24817
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005769IEA-early endosome-
GO:0005829IDA-cytosol-
GO:0043231IDA-intracellular membrane-bounded organelle-
GO ID Evidence Qualifier GO_term References
GO:0005096IEA-GTPase activator activity-
GO:0008083IEA-growth factor activity-
GO ID Evidence Qualifier GO_term References
GO:0006897IEA-endocytosis-
GO:0015031IEA-protein transport-
GO:0043547IEA-positive regulation of GTPase activity-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1917564
  • 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


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