ATP10D

Chr 4

ATPase phospholipid transporting 10D (putative)

Also known as: ATPVD

NCBI Gene: 57205ENSG00000145246UniProt: Q9P241OMIM: 619815

Enables glycosylceramide flippase activity. Predicted to be involved in phospholipid translocation. Located in endoplasmic reticulum and plasma membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.79
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.79LOEUF
pLI 0.000
Z-score 3.01
OE 0.61 (0.47–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.66Z-score
OE missense 0.93 (0.88–0.99)
714 obs / 765.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.47–0.79)
0≤0.351.4
Missense OE?0.93 (0.88–0.99)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 42 / 69.0Missense obs/exp: 714 / 765.5Syn Z: -0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATP10D · 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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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