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SYT2 synaptotagmin 2

Gene ID: 127833, updated on 12-Aug-2021
Gene type: protein coding
Also known as: CMS7; CMS7A; CMS7B; MYSPC; SytII


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

A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
GeneReviews: Not available
Myasthenic syndrome, congenital, 7, presynapticSee labs
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
MedGen: CN300319OMIM: 619461GeneReviews: Not available
not available

Genomic context

Chromosome: 1; NC_000001.11 (202590596..202710454, complement)
Total number of exons:


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