RAB3GAP2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RAB3GAP2 (HGNC:17168) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
RAB3 GTPase activating non-catalytic protein subunit 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69
%HI
51.08(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.54(Read more about gnomAD LOEUF score)
Cytoband
1q41
Genomic Coordinates
GRCh37/hg19: chr1:220321635-220445795 NCBI Ensembl UCSC
GRCh38/hg38: chr1:220148293-220272453 NCBI Ensembl UCSC
MANE Select Transcript
NM_012414.4 ENST00000358951.7 (Read more about MANE Select)
Function
Regulatory subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and guanine nucleotide exchange factor (GEF) activity towards RAB18 (PubMed:9733780, PubMed:24891604). As part of the Rab3GAP complex, acts as a GAP for Rab3 proteins by converting active RAB3-GTP to the inactive form RAB3- GDP (By similarity). Rab3 proteins... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-5493
ClinGen Curation ID:
CCID:007742
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • multiple congenital anomalies/dysmorphic syndrome-intellectual disability Monarch
HI Evidence Comments:
Biallelic variants in the RAB3GAP2 gene have been associated with the diseases Martsolf syndrome and Warburg micro syndrome 2 in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015159, has been selected for this curation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)