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. [provided by RefSeq, Oct 2009]

Description

RAB3 GTPase activating non-catalytic protein subunit 2

Tissue specificity

Low tissue specificity

Subcell location

Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (220148293 - 220272453)

Ensembl ID

ENSG00000118873  (ver. 103.38)

Orthologs

Mouse Rab3gap2: ENSMUSG00000039318

UniProt

Q9H2M9

neXtProt

NX_Q9H2M9

Human splice variants
Mouse splice variants

Protein structure