ATP6V0D2
ATPase H+ Transporting V0 Subunit D2
Gene Information Card
| Symbol | ATP6V0D2 |
|---|---|
| Full Name | ATPase H+ Transporting V0 Subunit D2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 245972 ncbi.nlm.nih.gov/gene/245972 |
| Ensembl ID | ENSG00000147677 |
| UniProt ID | Q8N8Y2 |
| OMIM ID | 611686 |
| HGNC ID | 18242 |
| Aliases | ATP6D2, VMA6, VPP6, ATP6V0D2 |
Description
ATP6V0D2 encodes subunit D2 of the vacuolar ATPase (V-ATPase) V0 domain, which is essential for proton transport across membranes. This subunit is highly expressed in osteoclasts and is critical for bone resorption. The protein is involved in acidification of intracellular compartments and the extracellular microenvironment, playing a key role in osteoclast-mediated bone remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteopetrosis (autosomal recessive) | Loss-of-function mutations impair osteoclast acidification, reducing bone resorption | PMID: 24509478; ClinVar |
| Osteoporosis (risk factor) | Reduced ATP6V0D2 expression correlates with decreased bone density | PMID: 20059952 |
| Cancer (bone metastasis) | Overexpression in tumor cells may enhance osteolytic activity | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.7 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Osteoclasts (primary) | 15.2 | High expression; key for function |
| THP-1 (monocyte) | 5.8 | Moderate; induced upon differentiation |
| HEK293 | 2.1 | Low baseline expression |
| A549 (lung) | 3.4 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.115C>T (p.Arg39*) | Nonsense | <0.01% | Loss of function; associated with osteopetrosis |
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Reduced V-ATPase activity |
| c.454_455del (p.Leu152fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing osteoclast acidification and causing osteopetrosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000221 - vacuolar proton-transporting V-type ATPase | • V0 domain |
| • GO:0015991 - ATP hydrolysis coupled proton transport | • GO:0033180 - proton-transporting V-type ATPase |
| • V0 domain | • GO:0045453 - bone resorption |
| • GO:0005764 - lysosome |
Pathways
• KEGG: hsa04742 - Taste transduction
• KEGG: hsa04966 - Collecting duct acid secretion
• Reactome: R-HSA-1222556 - Proton transport by V-ATPase
Protein Summary
ATP6V0D2 is a 40 kDa integral membrane protein that forms part of the V0 sector of the vacuolar ATPase complex. It is essential for proton translocation and organelle acidification. In osteoclasts, it localizes to the ruffled border membrane, enabling the acidic environment required for bone resorption. Mutations cause osteopetrosis due to defective acid secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP6V0D2 Knockout HEK293 Cell Line | EDJ-KQ11523 | Human | 245972 | Details Get a Quote |
| ATP6V0D2 Knockout HeLa Cell Line | EDJ-KQ59225 | Human | 245972 | Details Get a Quote |
| ATP6V0D2 Knockout A-549 Cell Line | EDJ-KQ67693 | Human | 245972 | Details Get a Quote |
| ATP6V0D2 Knockout HCT 116 Cell Line | EDJ-KQ76077 | Human | 245972 | Details Get a Quote |
| ATP6V0D2 Knockout IBMDM Cell Line | EDC07919 | Mouse | 242341 | Details Get a Quote |
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