SYT2

Chr 1

synaptotagmin 2

Also known as: CMS7, CMS7A, CMS7B, MYSPC, SytII

NCBI Gene: 127833 ENSG00000143858 UniProt: Q8N9I0

This gene encodes synaptotagmin-2, a synaptic vesicle membrane protein that functions as a calcium sensor in vesicular trafficking and exocytosis at nerve terminals. Mutations cause congenital myasthenic syndrome type 7 with presynaptic dysfunction, which can present with or without distal motor neuropathy, inherited in either autosomal dominant or autosomal recessive patterns. The gene is highly constrained against loss-of-function variation (pLI 0.98), reflecting its critical role in neuromuscular transmission.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMyasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant

UniProtMyasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)

congenital myasthenic syndrome 7 · ADModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.29

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429