RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2

Ensembl:
ENSG00000118873
UniProt:
Q9H2M9
OMIM:
609275
Synonyms:
DKFZP434D245, KIAA0839, RAB3-GAP150, SPG69

Cilia effects upon perturbation of RAB3GAP2

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
increased circulating alkaline phosphatase level; hyperactivity; abnormal optic disk morphology; decreased circulating HDL cholesterol level; prolonged RR interval; thrombocytopenia; decreased heart rate; decreased hematocrit; abnormal snout morphology; narrow eye opening
Mouse ciliopathy phenotype:
increased circulating bilirubin level; persistence of hyaloid vascular system; cataract
Human ciliopathy phenotype:
Cataract - intellectual disability - hypogonadism

Ciliopathy associations

  • Warburg Micro Syndrome

Subcellular localization

cytosol, plasma membrane

Functional category

  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

Mutations in RAB3GAP2 cause Warburg micro syndrome (PMID: 26063829).