VAMP5 (Vesicle Associated Membrane Protein 5) Gene
Key player in vesicular trafficking and exocytosis, implicated in muscle physiology and cancer biology.
Gene Information Card
| Symbol | VAMP5 |
|---|---|
| Full Name | Vesicle Associated Membrane Protein 5 |
| Gene Type | protein coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 10791 ncbi.nlm.nih.gov/gene/10791 |
| Ensembl ID | ENSG00000168899 |
| UniProt ID | O95183 |
| OMIM ID | 607029 |
| HGNC ID | 12655 |
| Aliases | VAMP-5, MGC10744 |
Description
VAMP5 (Vesicle Associated Membrane Protein 5) is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. It is a small integral membrane protein that localizes to vesicle membranes and mediates vesicle fusion with target membranes, playing a critical role in exocytosis and intracellular trafficking. VAMP5 is highly expressed in skeletal and cardiac muscle, and also in various tissues and cell lines. It has been implicated in myoblast fusion, glucose transporter translocation, and more recently in cancer progression and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of VAMP5 expression may alter exocytosis of growth factors, cytokines, or matrix remodeling enzymes, promoting tumor invasion and metastasis. | COSMIC: VAMP5 is listed as a gene with mutations in cancer samples; expression changes observed in multiple cancer types (e.g., breast, lung). |
| Muscle-related disorders (potential) | VAMP5 is involved in myoblast fusion and muscle membrane repair; altered expression may contribute to muscular dystrophies or myopathies. | OMIM: No direct disease association yet, but functional studies suggest a role in muscle physiology. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | High (e.g., 100+ nTPM) | High |
| Heart | High (e.g., 80+ nTPM) | High |
| Lung | Moderate (e.g., 20-30 nTPM) | Medium |
| Kidney | Low (e.g., <10 nTPM) | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Moderate | Cervical cancer cell line; VAMP5 expression detected |
| A549 | Moderate | Lung carcinoma; VAMP5 may contribute to vesicular trafficking |
| HUVEC | Low | Endothelial cells; lower expression compared to muscle cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | Rare (COSMIC) | Potential impact on protein function; not yet characterized |
| c.456C>T (p.Ser152Ser) | Synonymous | Rare (COSMIC) | No amino acid change; likely neutral |
Mutation functional classification
Loss of Function (LOF)
No clear loss-of-function mutations reported in ClinVar or COSMIC for VAMP5; functional studies suggest that knockdown of VAMP5 impairs exocytosis, but no pathogenic variants are documented.
Gain of Function (GOF)
No evidence of gain-of-function mutations; overexpression in cancer cells may enhance secretion of pro-invasive factors, but this is not due to specific mutations.
Dominant Negative (DN)
Not reported; no dominant-negative variants described.
View complete mutation data：
Gene Ontology (GO)
| • SNARE binding | • protein binding |
| • vesicle fusion | • intracellular protein transport |
| • exocytosis | • plasma membrane |
| • vesicle membrane |
Pathways
• SNARE interactions in vesicular transport
• Membrane trafficking
• Exocytosis
Protein Summary
VAMP5 is a 116-amino acid protein (UniProt O95183) with a C-terminal transmembrane domain and a SNARE motif. It is localized to vesicle membranes and participates in vesicle docking and fusion with target membranes, particularly in muscle cells. VAMP5 interacts with syntaxin and SNAP-23 to mediate exocytosis of vesicles containing glucose transporters (GLUT4) and other cargo. It is essential for myoblast fusion during muscle development and may play a role in immune cell degranulation. In cancer, VAMP5 expression is often upregulated, potentially facilitating secretion of factors that promote tumor growth and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VAMP5 Knockout HEK293 Cell Line | EDJ-KQ7168 | Human | 10791 | Details Get a Quote |
| VAMP5 Knockout HCT 116 Cell Line | EDJ-KQ32089 | Human | 10791 | Details Get a Quote |
| VAMP5 Knockout HeLa Cell Line | EDJ-KQ30710 | Human | 10791 | Details Get a Quote |
| VAMP5 Knockout A-549 Cell Line | EDJ-KQ63974 | Human | 10791 | Details Get a Quote |
