External Ids for SYT2 Gene
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]
GeneCards Summary for SYT2 Gene
SYT2 (Synaptotagmin II) is a Protein Coding gene. Diseases associated with SYT2 include myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy and botulism. Among its related pathways are Disease and Transmission across Chemical Synapses. GO annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is SYT5.
UniProtKB/Swiss-Prot for SYT2 Gene
May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse. It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone (By similarity).