Gene: SYT2

Alternate names for this Gene: CMS7|MYSPC|SytII

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: synaptotagmin 2

Type of Gene: protein-coding

rs141860749 in SYT2 gene and Epilepsy PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.

rs10920447 in SYT2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs141860749 in SYT2 gene and Maculopapular Lesion PMID 26220383 2015 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.