RIMS2 regulating synaptic membrane exocytosis 2
Gene ID: 9699, updated on 4-Jan-2025Gene type: protein coding
Also known as: OBOE; RIM2; CRSDS; RAB3IP3
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- Go to complete Gene record for RIMS2
- Go to Variation Viewer for RIMS2 variants
Summary
The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cone-rod synaptic disorder syndrome, congenital nonprogressive | not available |
| Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene. GeneReviews: Not available |
Genomic context
- Location:
- 8q22.3
- Sequence:
- Chromosome: 8; NC_000008.11 (103500610..104256094)
- Total number of exons:
- 42
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RIMS2 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
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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