Gene: RAB3GAP2

Alternate names for this Gene: RAB3-GAP150|RAB3GAP150|SPG69|WARBM2|p150

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q41

Description of this Gene: RAB3 GTPase activating non-catalytic protein subunit 2

Type of Gene: protein-coding

rs121434310 in RAB3GAP2 gene and Martsolf syndrome PMID 16532399 2006 Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

PMID 24891604 2014 Rab18 and a Rab18 GEF complex are required for normal ER structure.

rs1553275644 in RAB3GAP2 gene and Multiple congenital anomalies PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

PMID 16532399 2006 Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

PMID 24239381 2013 Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

PMID 23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

PMID 20967465 2011 A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

rs1553278569 in RAB3GAP2 gene and WARBURG MICRO SYNDROME 2 PMID 20967465 2011 A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.