VAMP8: Vesicle-Associated Membrane Protein 8
A key SNARE protein in membrane fusion, autophagy, and exocytosis
Gene Information Card
| Symbol | VAMP8 |
|---|---|
| Full Name | vesicle-associated membrane protein 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 8673 ncbi.nlm.nih.gov/gene/8673 |
| Ensembl ID | ENSG00000118640 |
| UniProt ID | Q9BV40 |
| OMIM ID | 603177 |
| HGNC ID | 12646 |
| Aliases | EDB, VAMP-8 |
Description
VAMP8 (vesicle-associated membrane protein 8) is a member of the SNARE protein family that mediates membrane fusion in vesicular transport. It is involved in exocytosis, autophagy, and endosomal trafficking. VAMP8 interacts with syntaxins and SNAP proteins to form SNARE complexes that drive fusion of vesicles with target membranes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Altered VAMP8 expression may affect autophagic flux and vesicle trafficking in leukemic cells | PMID: 25687244 |
| Breast cancer | VAMP8 overexpression correlates with poor prognosis and may promote exosome release | PMID: 31073040 |
| Neurodegenerative disorders | Impaired VAMP8-mediated autophagy contributes to protein aggregation | PMID: 22948145 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 15.2 | Medium |
| Lung | 18.7 | Medium |
| Pancreas | 22.1 | High |
| Spleen | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.3 | High expression |
| HeLa | 18.9 | Medium expression |
| K562 | 14.2 | Medium expression |
| MCF7 | 21.5 | High expression |
| SH-SY5Y | 12.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | p.Met1Val; potential loss of start codon |
| c.124G>A | missense | <0.01% | p.Glu42Lys; may affect SNARE domain |
| c.256C>T | nonsense | <0.01% | p.Arg86*; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg86*) and missense variants in the SNARE domain likely impair vesicle fusion and autophagy.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in VAMP8.
Dominant Negative (DN)
Missense mutations in the SNARE domain may act as dominant-negative by forming non-functional SNARE complexes.
View complete mutation data：
Gene Ontology (GO)
| • SNAP receptor activity (GO:0005484) | • vesicle fusion (GO:0006906) |
| • vesicle-mediated transport (GO:0016192) | • early endosome to late endosome transport (GO:0045022) |
| • membrane fusion (GO:0061024) |
Pathways
• SNARE interactions in vesicular transport (KEGG: hsa04130)
• Autophagy - animal (KEGG: hsa04140)
Protein Summary
VAMP8 is a 100-amino-acid SNARE protein with a C-terminal transmembrane domain and a central SNARE motif. It localizes to vesicles and mediates fusion with target membranes, particularly in endocytosis and autophagy. VAMP8 forms complexes with syntaxin 4, SNAP23, and other SNAREs to regulate exocytosis in immune cells and pancreatic acinar cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VAMP8 Knockout HEK293 Cell Line | EDJ-KQ3250 | Human | 8673 | Details Get a Quote |
| VAMP8 Knockout A-549 Cell Line | EDJ-KQ24785 | Human | 8673 | Details Get a Quote |
| VAMP8 Knockout HCT 116 Cell Line | EDJ-KQ24786 | Human | 8673 | Details Get a Quote |
| VAMP8 Knockout HeLa Cell Line | EDJ-KQ24787 | Human | 8673 | Details Get a Quote |
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