RAB3GAP2 Chromosome 1
RAB3 GTPase activating non-catalytic protein subunit 2
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What This Gene Does
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.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000118873
Associated Conditions (10)
Martsolf syndrome
Warburg micro syndrome 2
RAB3GAP2-related disorder
Inborn genetic diseases
Amenorrhea
Martsolf syndrome 1
Acute myeloid leukemia
Esophageal atresia/tracheoesophageal fistula
Neurodevelopmental delay
See cases
Key Variants
RS111859466
Conflicting classifications of pathogenicity
Martsolf syndrome, Warburg micro syndrome 2, Martsolf syndrome
Health Risk
RS137897304
Conflicting classifications of pathogenicity
Warburg micro syndrome 2, Martsolf syndrome, Warburg micro syndrome 2
Health Risk
RS138796052
Conflicting classifications of pathogenicity
Martsolf syndrome, Warburg micro syndrome 2, RAB3GAP2-related disorder
Health Risk
RS139337049
Conflicting classifications of pathogenicity
Warburg micro syndrome 2, Martsolf syndrome, RAB3GAP2-related disorder
Health Risk
RS139407102
Conflicting classifications of pathogenicity
Martsolf syndrome, Warburg micro syndrome 2, Amenorrhea
Health Risk
RS140377995
Conflicting classifications of pathogenicity
Warburg micro syndrome 2, Martsolf syndrome, RAB3GAP2-related disorder
Health Risk
RS1437597491
Conflicting classifications of pathogenicity
Martsolf syndrome, Warburg micro syndrome 2, Martsolf syndrome
Health Risk
RS1446997240
Conflicting classifications of pathogenicity
Martsolf syndrome, Warburg micro syndrome 2, Inborn genetic diseases
Health Risk
RS145701892
Conflicting classifications of pathogenicity
Martsolf syndrome, Warburg micro syndrome 2, Martsolf syndrome
Health Risk
RS148513462
Conflicting classifications of pathogenicity
Warburg micro syndrome 2, Martsolf syndrome, Inborn genetic diseases
Health Risk
RS150643803
Conflicting classifications of pathogenicity
Warburg micro syndrome 2, Martsolf syndrome, RAB3GAP2-related disorder
Health Risk
RS151225064
Conflicting classifications of pathogenicity
Warburg micro syndrome 2, Martsolf syndrome, Warburg micro syndrome 2
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121434310 | Health Risk | Pathogenic | Martsolf syndrome, Martsolf syndrome 1, Martsolf syndrome |
| RS1387931144 | Health Risk | Pathogenic | — |
| RS1553274382 | Health Risk | Pathogenic | — |
| RS1553275644 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553275687 | Health Risk | Pathogenic | Warburg micro syndrome 2, Warburg micro syndrome 2 |
| RS1553278569 | Health Risk | Pathogenic | Warburg micro syndrome 2, Warburg micro syndrome 2 |
| RS1658202227 | Health Risk | Pathogenic | Martsolf syndrome, Warburg micro syndrome 2, Martsolf syndrome |
| RS1658577400 | Health Risk | Pathogenic | — |
| RS1659134672 | Health Risk | Pathogenic | — |
| RS2102859415 | Health Risk | Pathogenic | Martsolf syndrome 1, Martsolf syndrome 1 |
| RS2102866054 | Health Risk | Pathogenic | Martsolf syndrome, Warburg micro syndrome 2, Martsolf syndrome |
| RS2102866096 | Health Risk | Pathogenic | Martsolf syndrome 1, Martsolf syndrome 1 |
| RS2528609674 | Health Risk | Pathogenic | Martsolf syndrome, Warburg micro syndrome 2, Martsolf syndrome |
| RS2528681294 | Health Risk | Pathogenic | Martsolf syndrome, Warburg micro syndrome 2, Martsolf syndrome |
| RS2528725124 | Health Risk | Pathogenic | Martsolf syndrome, Warburg micro syndrome 2, Martsolf syndrome |
| RS529653924 | Health Risk | Pathogenic | Warburg micro syndrome 2, Martsolf syndrome, Warburg micro syndrome 2 |
| RS587777168 | Health Risk | Pathogenic | Warburg micro syndrome 2, Warburg micro syndrome 2 |
| RS587777169 | Health Risk | Pathogenic | Warburg micro syndrome 2, See cases, Warburg micro syndrome 2 |
| RS587777170 | Health Risk | Pathogenic | Warburg micro syndrome 2, Warburg micro syndrome 2 |
| RS767189501 | Health Risk | Pathogenic | — |
| RS587777167 | Health Risk | Pathogenic/Likely pathogenic | Martsolf syndrome, Warburg micro syndrome 2, Martsolf syndrome 1 |
| RS797045103 | Health Risk | Pathogenic/Likely pathogenic | Warburg micro syndrome 2, Martsolf syndrome, Warburg micro syndrome 2 |