External Ids for SYT2 Gene
Previous GeneCards Identifiers 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 2) is a Protein Coding gene. Diseases associated with SYT2 include myasthenic syndrome, congenital, 7, presynaptic and presynaptic congenital myasthenic syndromes. Among its related pathways are Infectious disease and Uptake and actions of bacterial toxins. GO annotations related to this gene include calcium ion binding and syntaxin binding. An important paralog of this gene is SYT5.
UniProtKB/Swiss-Prot for SYT2 Gene
Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).