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Description for Protein RAB3GAP2

RAB3 GTPase activating protein subunit 2 (non-catalytic)
5 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(phosphoproteome: 1; platelet: 1; undefined: 1)
Summary:
The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome. (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Rab3 GTPase-activating protein, non-catalytic subunit (150kD); KIAA0839; DKFZP434D245
    Approved Symbol:
    RAB3GAP2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; Platelet phosphorylation sites: 1
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Martsolf syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 11471 Entrez Gene ID: 25782 OMIM ID: 609275 Swissprot Accession: Q9H2M9; A6H8V0;