VAMP7: Vesicle-Associated Membrane Protein 7
A key SNARE protein in vesicular trafficking and membrane fusion
Gene Information Card
| Symbol | VAMP7 |
|---|---|
| Full Name | Vesicle-Associated Membrane Protein 7 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 6845 ncbi.nlm.nih.gov/gene/6845 |
| Ensembl ID | ENSG00000124333 |
| UniProt ID | P51809 |
| OMIM ID | 300053 |
| HGNC ID | 12647 |
| Aliases | TI-VAMP, SYBL1, VAMP-7 |
Description
VAMP7 (Vesicle-Associated Membrane Protein 7), also known as TI-VAMP, is a member of the SNARE protein family. It is a key component of the vesicular trafficking machinery, mediating the fusion of vesicles with target membranes. VAMP7 is involved in various cellular processes including exocytosis, autophagy, and neurite outgrowth. The gene is located on the X chromosome and escapes X-inactivation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Disruption of VAMP7-mediated vesicle trafficking affects neuronal development and synaptic function | OMIM #300053; PMID: 21937992 |
| Congenital disorder of glycosylation (CDG) type II | Impaired vesicular transport of glycosylation enzymes to the Golgi apparatus | PMID: 25683120 |
| Cancer (various) | Altered VAMP7 expression may influence tumor cell invasion and metastasis through regulation of matrix metalloproteinase secretion | COSMIC; PMID: 23541953 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.9 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| SH-SY5Y | 18.7 | Neuroblastoma cell line |
| HEK293 | 14.1 | Embryonic kidney cell line |
| A549 | 11.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; associated with X-linked intellectual disability |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; likely pathogenic |
| c.497_498delAG (p.Glu166Valfs*12) | Frameshift | Rare | Loss of function; reported in CDG type II |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent protein, impairing vesicle fusion.
Gain of Function (GOF)
Not reported for VAMP7.
Dominant Negative (DN)
Not reported for VAMP7.
View complete mutation data：
Gene Ontology (GO)
| • SNARE binding | • vesicle fusion |
| • intracellular protein transport | • exocytosis |
| • autophagy | • membrane docking |
Pathways
• SNARE interactions in vesicular transport (KEGG: hsa04130)
• Autophagy (KEGG: hsa04140)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
VAMP7 is a 220-amino acid protein with a C-terminal transmembrane domain and a central SNARE motif. It forms a complex with syntaxin, SNAP-23, and other SNAREs to mediate fusion of vesicles with the plasma membrane or intracellular compartments. VAMP7 is involved in lysosomal exocytosis, neurite outgrowth, and cell migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VAMP7 Knockout HEK293 Cell Line | EDJ-KQ50670 | Human | 6845 | Details Get a Quote |
| VAMP7 Knockout HeLa Cell Line | EDJ-KQ54594 | Human | 6845 | Details Get a Quote |
| VAMP7 Knockout A-549 Cell Line | EDJ-KQ63076 | Human | 6845 | Details Get a Quote |
| VAMP7 Knockout HCT 116 Cell Line | EDJ-KQ71552 | Human | 6845 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
