VAMP2: Vesicle-Associated Membrane Protein 2
Key SNARE Protein in Neurotransmitter Release and Vesicle Fusion
Gene Information Card
| Symbol | VAMP2 |
|---|---|
| Full Name | Vesicle-Associated Membrane Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 6844 ncbi.nlm.nih.gov/gene/6844 |
| Ensembl ID | ENSG00000205560 |
| UniProt ID | P63027 |
| OMIM ID | 185880 |
| HGNC ID | 12643 |
| Aliases | SYB2, VAMP-2, synaptobrevin 2 |
Description
VAMP2 (vesicle-associated membrane protein 2), also known as synaptobrevin 2, is a key component of the SNARE complex that mediates docking and fusion of synaptic vesicles with the presynaptic membrane. It is essential for calcium-triggered neurotransmitter release and is expressed primarily in the nervous system and neuroendocrine tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy 108 (DEE108) | Missense and loss-of-function mutations in VAMP2 impair SNARE complex assembly, disrupting synaptic vesicle fusion and neurotransmitter release, leading to severe neurodevelopmental delay and epilepsy. | ClinVar, OMIM |
| Autism spectrum disorder (ASD) | Rare de novo missense variants in VAMP2 have been identified in individuals with ASD, suggesting altered vesicle dynamics may contribute to synaptic dysfunction. | ClinVar, PubMed |
| Intellectual disability | Pathogenic VAMP2 variants cause global developmental delay and intellectual disability due to impaired presynaptic function. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 48.5 | High |
| Adrenal gland | 12.3 | Medium |
| Pancreas | 6.8 | Medium |
| Testis | 4.2 | Low |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 35.2 | High expression; used in neuronal studies |
| PC-12 (pheochromocytoma) | 28.7 | High expression; model for neurosecretion |
| HeLa (cervical carcinoma) | 0.8 | Low expression |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.197G>A (p.Arg66Gln) | Missense | Rare | Impaired SNARE complex formation; associated with DEE108 |
| c.208C>T (p.Arg70Cys) | Missense | Rare | Reduced vesicle fusion; linked to ASD |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; severe neurodevelopmental phenotype |
| c.340_342del (p.Lys114del) | In-frame deletion | Rare | Altered SNARE motif; dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start loss, nonsense) reduce VAMP2 protein levels or disrupt SNARE binding, impairing neurotransmitter release.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for VAMP2.
Dominant Negative (DN)
Dominant-negative mutations (e.g., in-frame deletions in the SNARE motif) interfere with wild-type VAMP2 function, disrupting vesicle fusion.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neurotransmitter release cycle (Reactome R-HSA-112310)
• SNARE interactions in vesicular transport (KEGG hsa04130)
• Synaptic vesicle cycle (KEGG hsa04721)
Protein Summary
VAMP2 (synaptobrevin 2) is a 116-amino-acid integral membrane protein of synaptic vesicles. It contains a conserved SNARE motif that forms a four-helix bundle with syntaxin-1 and SNAP-25, driving membrane fusion. The protein is cleaved by botulinum and tetanus neurotoxins, highlighting its critical role in neurotransmission. Post-translational modifications include palmitoylation and phosphorylation, which regulate its localization and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VAMP2 Knockout HEK293 Cell Line | EDJ-KQ50669 | Human | 6844 | Details Get a Quote |
| VAMP2 Knockout HeLa Cell Line | EDJ-KQ54593 | Human | 6844 | Details Get a Quote |
| VAMP2 Knockout A-549 Cell Line | EDJ-KQ63075 | Human | 6844 | Details Get a Quote |
| VAMP2 Knockout HCT 116 Cell Line | EDJ-KQ71551 | Human | 6844 | Details Get a Quote |
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