GTR Home > Genes

SYT2 synaptotagmin 2

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

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

DescriptionTests
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

Location:
1q32.1
Sequence:
Chromosome: 1; NC_000001.11 (202590596..202710454, complement)
Total number of exons:
11

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center