RAB3 GTPase activating non-catalytic protein subunit 2
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Diagnostic Grade (Green)
Anophthalmia or microphthalmia
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalChildhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalCorneal abnormalities
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalMalformations of cortical development
BIALLELIC, autosomal or pseudoautosomal+7 more panels — install the extension to see the full list inline on any page.
Cataract - intellectual disability - hypogonadism
Micro syndrome
Martsolf syndrome
neurodegenerative disease
hereditary disease
Warburg micro syndrome
autosomal recessive spastic paraplegia type 69
Abnormality of the breast
Breast hypertrophy
Neurodevelopmental delay
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Rab3 GTPase-activating protein non-catalytic subunit
Regulatory subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which accelerates the otherwise slow GTP hydrolysis catalyzed by Rab proteins (PubMed:9733780, PubMed:39779760). The complex has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and has guanine nucleotide exchange factor (GEF) activity towards RAB18 (PubMed:9733780, PubMed:39779760, PubMed:24891604). The Rab3GAP complex acts as a GEF for RAB18 by promoting GDP release from RAB18 and the conversion of inactive RAB18-GDP to the active form RAB18-GTP (PubMed:39779760, PubMed:24891604). Recruits and stabilizes RAB18 at the cis-Golgi membrane in human fibroblasts where RAB18 is most likely activated (PubMed:26063829). Also involved in RAB18 recruitment 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 cell proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters (By similarity)
RAB3GAP2 · Q9H2M9
Mean pLDDT
79.6/ 100
Confident
1,393 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
