RAB3 GTPase activating protein subunit 2 (non-catalytic)

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NCBI Description of RAB3GAP2

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.

Community Annotation of RAB3GAP2 Add / Edit RAB3GAP2: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


RAB3GAP2 is highly significantly mutated in
RAB3GAP2 is significantly mutated in
RAB3GAP2 is near significance in

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Data details

Mutation list for RAB3GAP2