VAMP4: Vesicle Associated Membrane Protein 4
A key SNARE protein in intracellular vesicle trafficking and Golgi function
Gene Information Card
| Symbol | VAMP4 |
|---|---|
| Full Name | Vesicle Associated Membrane Protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.3 |
| NCBI Gene ID | 8674 ncbi.nlm.nih.gov/gene/8674 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | O75379 |
| OMIM ID | 606009 |
| HGNC ID | 12644 |
| Aliases | VAMP-4, VAMP4_HUMAN |
Description
VAMP4 (Vesicle Associated Membrane Protein 4) encodes a member of the SNARE protein family, specifically a vesicle-associated (v-SNARE) protein. It is involved in the docking and fusion of transport vesicles from the trans-Golgi network to the plasma membrane and endosomes, playing a critical role in intracellular membrane trafficking and protein sorting.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Impaired vesicle trafficking due to VAMP4 loss-of-function variants | PMID: 31564436 |
| Schizophrenia | Altered synaptic vesicle cycling and neurotransmission | PMID: 25056061 |
| Cancer (general) | Dysregulated membrane trafficking affecting cell signaling and invasion | PMID: 28114273 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Adipose tissue | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| SH-SY5Y | 11.2 | Neuronal model |
| HeLa | 9.5 | Cervical cancer line |
| HepG2 | 5.0 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss-of-function |
| c.208C>T (p.Arg70Trp) | missense | <0.01% | Altered SNARE domain, reduced binding |
| c.337G>A (p.Glu113Lys) | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Missense variants in the SNARE domain impair vesicle fusion, leading to trafficking defects.
Gain of Function (GOF)
Not reported for VAMP4.
Dominant Negative (DN)
Not reported for VAMP4.
View complete mutation data：
Gene Ontology (GO)
| • SNAP receptor activity (GO:0005484) | • intracellular protein transport (GO:0006886) |
| • vesicle fusion (GO:0006906) | • vesicle-mediated transport (GO:0016192) |
| • SNARE complex (GO:0031201) | • vesicle docking (GO:0048278) |
Pathways
• SNARE interactions in vesicular transport (KEGG: hsa04130)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
VAMP4 is a 141-amino acid integral membrane protein with a C-terminal transmembrane domain and a central SNARE motif. It localizes primarily to the trans-Golgi network and recycling endosomes, where it forms SNARE complexes with syntaxin-6, syntaxin-16, and Vti1a to mediate homotypic fusion and vesicle docking. Its expression is enriched in brain and endocrine tissues, consistent with roles in regulated secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VAMP4 Knockout HEK293 Cell Line | EDJ-KQ6322 | Human | 8674 | Details Get a Quote |
| VAMP4 Knockout A-549 Cell Line | EDJ-KQ30253 | Human | 8674 | Details Get a Quote |
| VAMP4 Knockout HCT 116 Cell Line | EDJ-KQ30254 | Human | 8674 | Details Get a Quote |
| VAMP4 Knockout HeLa Cell Line | EDJ-KQ30255 | Human | 8674 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
