VAMP2

Chr 17AD

vesicle associated membrane protein 2

Also known as: NEDHAHM, SYB2, VAMP-2

NCBI Gene: 6844 ENSG00000220205 UniProt: P63027 OMIM: 185881

The protein is a synaptic vesicle membrane protein that participates in neurotransmitter release by forming complexes with syntaxin, SNAP25, and synaptotagmin to facilitate docking and fusion of synaptic vesicles with the presynaptic membrane. Mutations cause autosomal dominant neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements. The pathogenic mechanism involves dominant-negative effects that disrupt normal synaptic vesicle fusion and neurotransmitter release.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsMIM #618760

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.42

LOEUF

Multiple*

Mechanism· predicted