SV2C

SV2C (Synaptic Vesicle Glycoprotein 2C) is a Protein Coding gene. Diseases associated with SV2C include Alcohol-Related Birth Defect and Foodborne Botulism. Among its related pathways are Uptake and actions of bacterial toxins and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include transporter activity and transmembrane transporter activity. An important paralog of this gene is SV2A.Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles.(Microbial infection) Receptor for the botulinium neurotoxin type A/BOTA.

Full Name

synaptic vesicle glycoprotein 2C

Function

Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles.
(Microbial infection) Receptor for C.botulinum neurotoxin type A (BoNT/A, botA); the toxin probably binds via extracellular loop 4 (PubMed:27313224).
Recognition by BoNT/A relies on both protein-protein and protein-N-glycosylation; glycosylation of Asn-559 increases its affinity for BoNT/A (PubMed:27313224).
Also serves as a receptor for the closely related C.botulinum neurotoxin type A2; glycosylation is not essential but enhances the interaction (PubMed:29649119).
(Microbial infection) Possible receptor for C.botulinum neurotoxin type D (BoNT/D, botD); note that type D does not usually infect humans.

Biological Process

Biological Process chemical synaptic transmissionIEA:InterPro
Biological Process neurotransmitter transportIEA:UniProtKB-KW

Cellular Location

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane
Enriched in small synaptic vesicles and adrenal microsomes, not present in chromaffin granules. Associated with both insulin granules and synaptic-like microvesicles in insulin-secreting cells of the pancreas.

Topology

Cytoplasmic: 1-154
Helical: 155-175
Extracellular: 176-191
Helical: 192-212
Cytoplasmic: 213-226
Helical: 227-247
Extracellular: 248
Helical: 249-269
Cytoplasmic: 270-280
Helical: 281-301
Extracellular: 302-320
Helical: 321-341
Cytoplasmic: 342-437
Helical: 438-458
Extracellular: 459-578
Helical: 579-599
Cytoplasmic: 600-609
Helical: 610-630
Extracellular: 631-636
Helical: 637-657
Cytoplasmic: 658-669
Helical: 670-690
Extracellular: 691-698
Helical: 699-719
Cytoplasmic: 720-727

PTM

N-glycosylated. Upon expression in a kidney cell line the most abundant glycan on Asn-534 is GlcNAc3Hex5, while on Asn-559 and Asn-565 the most abundant glycan is GlcNAc2Fuc1Man3GlcNAc3Gal3. Both Asn-559 and Asn-565 have a high degree of glycan heterogeneity (PubMed:27313224).