VAMP2

Chr 17p13.1

vesicle associated membrane protein 2

Aliases:: VAMP-2
MANE:: ENST00000316509.11

OMIM: 185881 ↗NCBI: 6844 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

VAMP2 · P63027

v62025-08-01

Predicted Aligned Error matrix for VAMP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.3/ 100

Confident

116 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)38%
Low(50–70)31%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
0.72
Intellectual disability
0.62
botulism
0.53
Torticollis
0.51
Global developmental delay
0.46
Dystonia
0.46
Seizure
0.46
Motor stereotypy
0.46
Generalized hypotonia
0.46
Cerebral visual impairment
0.46

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Vesicle-associated membrane protein 2

SNAREs (soluble N-ethylmaleimide-sensitive factor-attachment protein receptors) are essential proteins for intracellular membrane fusion. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four-helix bundle whose assembly releases energy that drives membrane fusion. The core SNARE complex typically consists of four alpha-helical domains, three from target membrane SNAREs (t-SNAREs) and one from a vesicle SNARE (v-SNARE) (PubMed:10036234, PubMed:30929742). VAMP2 is a v-SNARE assembling into a SNARE complex with the t-SNAREs SNAP25 and STX1A to mediate the fusion of synaptic vesicles with the presynaptic plasma membrane in neurotransmitter release (PubMed:30929742). Also functions in compensatory endocytosis for synaptic vesicle recycling (By similarity). In adipocytes, it is involved in the insulin-dependent exocytosis of GLUT4 storage vesicles (By similarity). Independently of its SNARE activity, it could modulate the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (By similarity)