VMA22
Vacuolar ATPase Assembly Factor VMA22
Gene Information Card
| Symbol | VMA22 |
|---|---|
| Full Name | vacuolar ATPase assembly factor VMA22 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 84971 ncbi.nlm.nih.gov/gene/84971 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9BV68 |
| OMIM ID | 620364 |
| HGNC ID | 28983 |
| Aliases | C16orf7, HSPC162, V-ATPase assembly factor VMA22 |
Description
VMA22 encodes a protein involved in the assembly of the vacuolar ATPase (V-ATPase) complex, which acidifies intracellular organelles. The protein is a cytosolic factor that facilitates the assembly of the V1 and V0 domains of V-ATPase. Defects in V-ATPase assembly can lead to impaired organelle acidification and are associated with various cellular dysfunctions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.2 | Low |
| Kidney | 5.1 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.1 | Moderate expression |
| K562 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • vacuolar proton-transporting V-type ATPase (GO:0000221) | • cytoplasm (GO:0005737) |
| • proton-transporting ATPase activity (GO:0046961) | • proton-transporting V-type ATPase (GO:0033178) |
Pathways
• V-ATPase assembly (Reactome: R-HSA-5250913)
• Organelle biogenesis and maintenance
Protein Summary
The VMA22 protein (UniProt Q9BV68) is a 22 kDa cytosolic factor essential for the assembly of the vacuolar ATPase complex. It interacts with other assembly factors to promote the correct association of the V1 and V0 domains. The protein is ubiquitously expressed with highest levels in testis. No disease-causing mutations have been reported to date.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
