SYT2 synaptotagmin 2
Gene ID: 127833, updated on 14-Nov-2024Gene type: protein coding
Also known as: CMS7; CMS7A; CMS7B; MYSPC; SytII
- See all available tests in GTR for this gene
- Go to complete Gene record for SYT2
- Go to Variation Viewer for SYT2 variants
Summary
This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. GeneReviews: Not available | |
| Congenital myasthenic syndrome 7 | See labs |
| Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | See labs |
Genomic context
- Location:
- 1q32.1
- Sequence:
- Chromosome: 1; NC_000001.11 (202590596..202710454, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SYT2 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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