InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAB3GAP2

Summary

InnateDB Protein

IDBP-106746.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RAB3GAP2

Protein Name

RAB3 GTPase activating protein subunit 2 (non-catalytic)

Synonyms

AurAps1; p150; RAB3-GAP150; RAB3GAP150; SPG69; STK6P; WARBM2;

Species

Homo sapiens

Ensembl Protein

ENSP00000351832

InnateDB Gene

IDBG-106744 (RAB3GAP2)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:9733780}.

Subcellular Localization

Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.

Disease Associations

Martsolf syndrome (MARTS) [MIM:212720]: Characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive. {ECO:0000269PubMed:16532399}. Note=The disease is caused by mutations affecting the gene represented in this entry.Warburg micro syndrome 2 (WARBM2) [MIM:614225]: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. {ECO:0000269PubMed:20967465}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:9733780}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.

Experimentally validated
Total	22 [view]
Protein-Protein	22 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005096	GTPase activator activity
GO:0005515	protein binding
GO:0008047	enzyme activator activity
GO:0030234	enzyme regulator activity
GO:0046982	protein heterodimerization activity

Biological Process

GO:0006886	intracellular protein transport
GO:0043085	positive regulation of catalytic activity
GO:0043087	regulation of GTPase activity
GO:0043547	positive regulation of GTPase activity