ATP6V0D2

Chr 8

ATPase H+ transporting V0 subunit d2

Also known as: ATP6D2, VMA6

NCBI Gene: 245972ENSG00000147614UniProt: Q8N8Y2

Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in vacuolar acidification and vacuolar transport. Located in apical plasma membrane. Part of vacuolar proton-transporting V-type ATPase complex. [provided by Alliance of Genome Resources, Jul 2025]

Research Assistant →
0
Active trials
18
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
1.40
LOEUF
—
Mechanism
Clinical Summary— ATP6V0D2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.40LOEUF
pLI 0.000
Z-score 0.25
OE 0.94 (0.64–1.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.77Z-score
OE missense 1.16 (1.04–1.29)
222 obs / 192.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.94 (0.64–1.40)
0≤0.351.4
Missense OE1.16 (1.04–1.29)
0≤0.61.4
Synonymous OE1.10
0≤1.21.6
LoF obs/exp: 17 / 18.1Missense obs/exp: 222 / 192.0Syn Z: -0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATP6V0D2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Atractylenolide I inhibits angiogenesis and reverses sunitinib resistance in clear cell renal cell carcinoma through ATP6V0D2-mediated autophagic degradation of EPAS1/HIF2α.
Li Q et al.·Autophagy
2025
Macrophages Atp6v0d2 regulates XBP1-mediated cholesterol metabolism to suppress metabolic dysfunction-associated steatohepatitis progression.
Wang Z et al.·Int Immunopharmacol
2025
Lactate inhibits ATP6V0d2 expression in tumor-associated macrophages to promote HIF-2α-mediated tumor progression.
Liu N et al.·J Clin Invest
2019
Arcyriaflavin A Alleviates Osteoporosis by Suppressing RANKL-Induced Osteoclastogenesis.
Zhu M et al.·Int J Mol Sci
2025
Inhibiting ATP6V0D2 Aggravates Liver Ischemia-Reperfusion Injury by Promoting NLRP3 Activation via Impairing Autophagic Flux Independent of Notch1/Hes1.
Wang Z et al.·J Immunol Res
2021
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients