ATP6V0B Gene - V-type Proton ATPase Subunit V0 B
Essential component of the vacuolar ATPase complex involved in acidification of intracellular organelles
Gene Information Card
| Symbol | ATP6V0B |
|---|---|
| Full Name | ATPase H+ Transporting V0 Subunit B |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 533 ncbi.nlm.nih.gov/gene/533 |
| Ensembl ID | ENSG00000117419 |
| UniProt ID | Q99437 |
| OMIM ID | 603717 |
| HGNC ID | 862 |
| Aliases | ATP6B1B, VMA16, VPH2, ATP6V0B1 |
Description
ATP6V0B encodes a component of the vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments such as lysosomes, endosomes, and secretory vesicles. The V0 subunit B is part of the membrane-bound V0 domain responsible for proton translocation. This gene is essential for organelle pH homeostasis, protein degradation, and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal tubular acidosis | Impaired V-ATPase function in kidney intercalated cells reduces proton secretion, leading to metabolic acidosis | OMIM #603717 |
| Osteopetrosis | Defective osteoclast acidification disrupts bone resorption | ClinVar |
| Cancer (multiple types) | Altered V-ATPase expression promotes tumor microenvironment acidification and metastasis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 8.3 | Medium |
| Brain | 6.7 | Medium |
| Heart | 5.1 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.0 | Moderate expression |
| A549 | 9.3 | Moderate expression |
| K562 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Potential loss of function |
| c.124C>T | nonsense | <0.01% | Premature truncation |
| c.345_346insA | frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing V-ATPase assembly and acidification.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP hydrolysis coupled proton transport (GO:0015991) | • lysosome (GO:0005764) |
| • membrane (GO:0016020) | • vacuolar proton-transporting V-type ATPase (GO:0000220) |
| • proton-transporting ATPase activity (GO:0046961) |
Pathways
• V-ATPase-mediated acidification (Reactome R-HSA-1222449)
• Lysosome (KEGG hsa04142)
• Oxidative phosphorylation (KEGG hsa00190)
Protein Summary
ATP6V0B encodes the B subunit of the V0 domain of vacuolar ATPase. This integral membrane protein is essential for proton translocation across membranes. It is ubiquitously expressed with highest levels in kidney and liver. The protein interacts with other V0 subunits to form a proton channel, and its dysfunction is linked to renal acidosis, osteopetrosis, and cancer progression.
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