AutismKB 2.0

Annotation Details for RABGGTA


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Basic Information Top
Gene Symbol:RABGGTA ( PTAR3 )
Gene Full Name: Rab geranylgeranyltransferase, alpha subunit
Band: 14q11.2
Quick LinksEntrez ID:5875; OMIM: 601905; Uniprot ID:PGTA_HUMAN; ENSEMBL ID: ENSG00000100949; HGNC ID: 9795
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0005886TAS-plasma membrane-
GO:0005968ISS-Rab-protein geranylgeranyltransferase complex-
GO ID Evidence Qualifier GO_term References
GO:0004663ISS-Rab geranylgeranyltransferase activity-
GO:0008270IEA-zinc ion binding-
GO:0017137ISS-Rab GTPase binding-
GO:0046982IEA-protein heterodimerization activity-
GO ID Evidence Qualifier GO_term References
GO:0006461IEA-protein complex assembly-
GO:0006464TAS-cellular protein modification process2018975
GO:0007601TAS-visual perception8380507
GO:0018344ISS-protein geranylgeranylation-
GO:0042981TAS-regulation of apoptotic process-
GO:0043687TAS-post-translational protein modification-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1860443
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (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