RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2
Gene ID: 25782, updated on 7-Apr-2024Gene type: protein coding
Also known as: p150; SPG69; MARTS1; WARBM2; RAB3GAP150; RAB3-GAP150
- See all available tests in GTR for this gene
- Go to complete Gene record for RAB3GAP2
- Go to Variation Viewer for RAB3GAP2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Martsolf syndrome 1 | See labs |
| Warburg micro syndrome 2 | See labs |
Genomic context
- Location:
- 1q41
- Sequence:
- Chromosome: 1; NC_000001.11 (220148293..220272453, complement)
- Total number of exons:
- 35
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RAB3GAP2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RAB3GAP2 @ LOVD
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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