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 (By similarity).

(Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1.

Developmental and epileptic encephalopathy 113

DEE113

A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE113 is an autosomal recessive form characterized by severe early-onset recurrent epilepsy.

None

The disease may be caused by variants affecting the gene represented in this entry.

Phosphorylation by CK1 of the N-terminal cytoplasmic domain regulates interaction with SYT1.

N-glycosylated.

Belongs to the major facilitator superfamily.

• Presynapse
• Cytoplasmic vesicle
• Secretory vesicle
• Synaptic vesicle membrane
• Multi-pass membrane protein
• Enriched in chromaffin granules, not present in adrenal microsomes. Associated with both insulin granules and synaptic-like microvesicles in insulin-secreting cells of the pancreas (By similarity). Colocalizes with ATP2B1 at photoreceptor synaptic terminals.

KIAA0736, PSEC0174, SV2A, Synaptic vesicle glycoprotein 2A

• entrezGene:9900
• omim:185860
• swissprot:Q7L0J3

Proteins

Neuroscience

82695Da