RAB3GAP2
Function
Regulatory subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and guanine nucleotide exchange factor (GEF) activity towards RAB18 (PubMed:24891604, PubMed:9733780). As part of the Rab3GAP complex, acts as a GAP for Rab3 proteins by converting active RAB3-GTP to the inactive form RAB3-GDP (By similarity). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones (By similarity). The Rab3GAP complex, acts as a GEF for RAB18 by promoting the conversion of inactive RAB18-GDP to the active form RAB18-GTP (PubMed:24891604). Required for recruiting and activating RAB18 at the endoplasmic reticulum (ER) membrane where it maintains proper ER structure (PubMed:24891604). Required for normal eye and brain development (By similarity). May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters (By similarity).
Involvement in disease
Martsolf syndrome 1
MARTS1
An autosomal recessive disease characterized by congenital cataracts, intellectual disability, and hypogonadism.
None
The disease is caused by variants affecting the gene represented in this entry.
Warburg micro syndrome 2
WARBM2
A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Rab3-GAP regulatory subunit family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Cytoplasm
- Endoplasmic reticulum
- In neurons, it is enriched in the synaptic soluble fraction.
Alternative names
KIAA0839, RAB3GAP2, Rab3 GTPase-activating protein non-catalytic subunit, RGAP-iso, Rab3 GTPase-activating protein 150 kDa subunit, Rab3-GAP p150, Rab3-GAP regulatory subunit, Rab3-GAP150