VAMP2
Function
Involved in the targeting and/or fusion of transport vesicles to their target membrane (By similarity). Major SNARE protein of synaptic vesicles which mediates fusion of synaptic vesicles to release neurotransmitters. Essential for fast vesicular exocytosis and activity-dependent neurotransmitter release as well as fast endocytosis that mediates rapid reuse of synaptic vesicles (By similarity) (PubMed:30929742). Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1.
Involvement in disease
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
NEDHAHM
An autosomal dominant disorder characterized by axial hypotonia apparent at birth, global developmental delay, intellectual disability, seizures, and autistic features. Involuntary hyperkinetic movements are present in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by PRKCZ in vitro and this phosphorylation is increased in the presence of WDFY2.
(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type B (BoNT/B, botB) which hydrolyzes the 76-Gln-|-Phe-77 bond and probably inhibits neurotransmitter release (PubMed:7803399).
(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type D (BoNT/D, botD) which probably hydrolyzes the 59-Lys-|-Leu-60 bond and inhibits neurotransmitter release (PubMed:22289120). Note that humans are not known to be infected by C.botulinum type D.
(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type F (BoNT/F, botF) which hydrolyzes the 58-Gln-|-Lys-59 bond and probably inhibits neurotransmitter release (PubMed:19543288).
(Microbial infection) Targeted and hydrolyzed by C.tetani tetanus toxin (tetX) which hydrolyzes the 76-Gln-|-Phe-77 bond and probably inhibits neurotransmitter release (PubMed:7803399).
Sequence Similarities
Belongs to the synaptobrevin family.
Tissue Specificity
Nervous system and skeletal muscle.
Cellular localization
- Cytoplasmic vesicle
- Secretory vesicle
- Synaptic vesicle membrane
- Single-pass type IV membrane protein
- Cell membrane
- Colocalizes with PRKCZ and WDFY2 in intracellular vesicles (PubMed:17313651).
Alternative names
SYB2, VAMP2, Vesicle-associated membrane protein 2, VAMP-2, Synaptobrevin-2