Aliases for SYT2 Gene
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 Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and syntaxin binding. An important paralog of this gene is SYT1.
UniProtKB/Swiss-Prot Summary 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).