Aliases for RAB3GAP2 Gene
External Ids for RAB3GAP2 Gene
Previous GeneCards Identifiers for RAB3GAP2 Gene
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]
GeneCards Summary for RAB3GAP2 Gene
RAB3GAP2 (RAB3 GTPase Activating Protein Subunit 2 (Non-Catalytic)) is a Protein Coding gene. Diseases associated with RAB3GAP2 include martsolf syndrome and cataract - intellectual disability - hypogonadism. Among its related pathways are Effects of Botulinum toxin. GO annotations related to this gene include protein heterodimerization activity and Rab GTPase binding.
UniProtKB/Swiss-Prot for RAB3GAP2 Gene
Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.