ATP6V1C2: V-type proton ATPase subunit C 2
A key regulator of vacuolar acidification and cellular pH homeostasis
Gene Information Card
| Symbol | ATP6V1C2 |
|---|---|
| Full Name | ATPase H+ transporting V1 subunit C2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 245973 ncbi.nlm.nih.gov/gene/245973 |
| Ensembl ID | ENSG00000162999 |
| UniProt ID | Q8N3Y7 |
| OMIM ID | 618363 |
| HGNC ID | 18237 |
| Aliases | ATP6C2, Vma5, V-ATPase subunit C 2 |
Description
ATP6V1C2 encodes the C2 subunit of the vacuolar (V-type) ATPase V1 domain, which is responsible for acidifying intracellular compartments such as lysosomes, endosomes, and secretory vesicles. This subunit is involved in regulating the assembly and activity of the V-ATPase complex, playing a critical role in cellular pH homeostasis, protein degradation, and vesicular trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal tubular acidosis | Impaired V-ATPase function leads to defective acid secretion in renal tubules | ClinVar |
| Cutis laxa | Mutations in ATP6V1C2 may disrupt lysosomal acidification affecting elastin metabolism | OMIM |
| Neurodevelopmental disorders | Altered pH homeostasis in neurons due to V-ATPase dysfunction | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Lung | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Medium expression |
| SH-SY5Y | 9.1 | Medium expression |
| HepG2 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely loss of function |
| c.245C>T | Nonsense | <0.01% | Premature stop, loss of function |
| c.678_679del | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in ATP6V1C2 are loss-of-function, impairing V-ATPase assembly and acidification.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • vacuolar proton-transporting V-type ATPase (GO:0000221) | • ATP hydrolysis coupled proton transport (GO:0015991) |
| • vacuolar transport (GO:0007034) | • lysosome (GO:0005764) |
| • vacuolar membrane (GO:0005774) |
Pathways
• V-ATPase mediated acidification (Reactome: R-HSA-1222556)
• Lysosome (KEGG: hsa04142)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
The ATP6V1C2 protein is a 383-amino acid subunit of the V1 peripheral domain of vacuolar ATPase. It is essential for the assembly and regulation of the proton pump, which acidifies intracellular organelles. The protein contains a Rossmann-like fold and interacts with other V1 subunits to modulate ATP hydrolysis and proton translocation. Defects in this protein are associated with renal tubular acidosis and cutis laxa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP6V1C2 Knockout HEK293 Cell Line | EDJ-KQ1144 | Human | 245973 | Details Get a Quote |
| ATP6V1C2 Knockout A-549 Cell Line | EDJ-KQ20363 | Human | 245973 | Details Get a Quote |
| ATP6V1C2 Knockout HCT 116 Cell Line | EDJ-KQ20364 | Human | 245973 | Details Get a Quote |
| ATP6V1C2 Knockout HeLa Cell Line | EDJ-KQ20365 | Human | 245973 | Details Get a Quote |
