HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATP6V0D2
ATPase H+ transporting V0 subunit d2
Chromosome 8 · 8q21.3
NCBI Gene: 245972Ensembl: ENSG00000147614.5HGNC: HGNC:18266UniProt: Q8N8Y2
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
apical plasma membraneextracellular exosomeprotein bindingvacuolar proton-transporting V-type ATPase complexneurodegenerative diseaseCOVID-19severe acute respiratory syndrometriple-negative breast cancer
✦AI Summary

ATP6V0D2 encodes a macrophage-specific subunit of the vacuolar H+-ATPase (V-ATPase) complex that plays critical roles in autophagy regulation and cellular homeostasis. The protein facilitates autophagosome-lysosome fusion by interacting with SNARE proteins STX17 and VAMP8, as well as RAB7 and VPS41, promoting SNARE complex assembly and enhancing lysosomal acidification and activity 12. ATP6V0D2 deficiency in macrophages leads to impaired autophagy, increased mitochondrial damage, enhanced inflammasome activation, and reduced bacterial clearance 1. In metabolic dysfunction-associated steatohepatitis (MASH), ATP6V0D2 regulates XBP1-mediated cholesterol metabolism and maintains hepatic lipid homeostasis, with deficiency exacerbating disease progression 3. The protein also contributes to antiviral immunity by promoting YAP lysosomal degradation, which enhances interferon-β production 4. Additionally, ATP6V0D2 plays roles in cancer biology, where it promotes autophagic degradation of EPAS1/HIF2α in renal cell carcinoma and reverses sunitinib resistance 2. Beyond macrophages, ATP6V0D2 is expressed in pulmonary ciliated cells and club cells, potentially contributing to high-altitude adaptation 5, and influences osteoblast-osteoclast communication in bone homeostasis 6.

Sources cited
1
ATP6V0D2 facilitates autophagosome-lysosome fusion through interaction with STX17 and VAMP8, and its deficiency leads to impaired autophagy and increased inflammasome activation
PMID: 30681394
2
ATP6V0D2 promotes autophagosome-lysosome fusion by binding RAB7 and VPS41, and facilitates autophagic degradation of EPAS1/HIF2α
PMID: 39477683
3
ATP6V0D2 regulates XBP1-mediated cholesterol metabolism in macrophages and its deficiency exacerbates MASH progression
PMID: 40526981
4
ATP6V0D2 promotes YAP lysosomal degradation to enhance antiviral interferon-β production
PMID: 33798471
5
ATP6V0D2 is expressed in pulmonary ciliated cells and club cells, potentially contributing to high-altitude adaptation
PMID: 36980869
6
ATP6V0D2 influences osteoblast-osteoclast communication in bone homeostasis
PMID: 28324674
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
COVID-19Open Targets
0.31Weak
severe acute respiratory syndromeOpen Targets
0.30Weak
triple-negative breast cancerOpen Targets
0.07Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.07Suggestive
adolescent idiopathic scoliosisOpen Targets
0.06Suggestive
nephrotic syndromeOpen Targets
0.05Suggestive
corneal ulcerOpen Targets
0.05Suggestive
clear cell renal carcinomaOpen Targets
0.04Suggestive
myelodysplastic syndromeOpen Targets
0.04Suggestive
12q14 microdeletion syndromeOpen Targets
0.04Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.04Suggestive
asthmaOpen Targets
0.04Suggestive
osteomesopyknosisOpen Targets
0.03Suggestive
melorheostosisOpen Targets
0.03Suggestive
pyknoachondrogenesisOpen Targets
0.03Suggestive
hyperostosis corticalis generalisataOpen Targets
0.03Suggestive
esophageal adenocarcinomaOpen Targets
0.03Suggestive
autosomal recessive osteopetrosis 6Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP5MC1Protein interaction100%ATP5MC2Protein interaction100%ATP5MC3Protein interaction100%ATP6V1AProtein interaction100%ATP6V0CProtein interaction100%ATP6AP1Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Brain
49%
Liver
5%
Ovary
5%
Bone Marrow
3%
Heart
0%
Gene Interaction Network
Click a node to explore
ATP6V0D2ATP5MC1ATP5MC2ATP5MC3ATP6V1AATP6V0CATP6AP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N8Y2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.76–1.37]
RankingsWhere ATP6V0D2 stands among ~20K protein-coding genes
  • #11,668of 20,598
    Most Researched31
  • #14,284of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedATP6V0D2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Osteoblast-osteoclast interactions.
PMID: 28324674
Connect Tissue Res · 2018
1.00
2
The macrophage-specific V-ATPase subunit ATP6V0D2 restricts inflammasome activation and bacterial infection by facilitating autophagosome-lysosome fusion.
PMID: 30681394
Autophagy · 2019
0.90
3
Serine metabolism antagonizes antiviral innate immunity by preventing ATP6V0d2-mediated YAP lysosomal degradation.
PMID: 33798471
Cell Metab · 2021
0.80
4
Atractylenolide I inhibits angiogenesis and reverses sunitinib resistance in clear cell renal cell carcinoma through ATP6V0D2-mediated autophagic degradation of EPAS1/HIF2α.
PMID: 39477683
Autophagy · 2025
0.70
5
Macrophages Atp6v0d2 regulates XBP1-mediated cholesterol metabolism to suppress metabolic dysfunction-associated steatohepatitis progression.
PMID: 40526981
Int Immunopharmacol · 2025
0.60