SYT2
Chr 1ADARsynaptotagmin 2
Also known as: CMS7, CMS7A, CMS7B, MYSPC, SytII
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.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SYT2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools