SYT2

Synaptotagmins, like SYT2, are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis (Hilbush and Morgan, 1994 [PubMed 8058779]).[supplied by OMIM

Full Name

synaptotagmin II

Function

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).

Biological Process

Biological Process calcium ion-regulated exocytosis of neurotransmitterIBA:GO_Central1 Publication
Biological Process calcium-ion regulated exocytosisIBA:GO_Central1 Publication
Biological Process cell differentiationIEA:UniProtKB-KW
Biological Process cellular response to calcium ionIBA:GO_Central1 Publication
Biological Process positive regulation of dendrite extensionIDA:UniProtKB1 Publication
Biological Process regulation of calcium ion-dependent exocytosisIBA:GO_Central1 Publication
Biological Process regulation of dopamine secretionIBA:GO_Central1 Publication
Biological Process synaptic vesicle endocytosisIBA:GO_Central1 Publication
Biological Process vesicle-mediated transportIBA:GO_Central1 Publication

Cellular Location

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane
Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane

Involvement in disease

Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant (CMS7A):
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7A is an autosomal dominant, presynaptic disorder resembling Lambert-Eaton myasthenic syndrome. Affected individuals have a variable degree of proximal and distal limb weakness, muscle fatigue that improves with rest, mild gait difficulties, and reduced or absent deep tendon reflexes.
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive (CMS7B):
An autosomal recessive form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7B is characterized by defects at the pre-synaptic neuromuscular junction and severe generalized muscle weakness apparent from birth. Decreased fetal movements may be apparent in utero. Affected infants have generalized hypotonia, head lag, and facial muscle weakness with ptosis. Some patients may have respiratory involvement.

Topology

Vesicular: 1-62
Helical: 63-83
Cytoplasmic: 84-419