ATP9B

Chr 18

ATPase phospholipid transporting 9B

Also known as: ATPASEP, ATPIIB, HUSSY-20, NEO1L, hMMR1

NCBI Gene: 374868ENSG00000166377UniProt: O43861OMIM: 614446

Predicted to enable ATPase-coupled intramembrane lipid carrier activity. Predicted to be involved in endocytosis; phospholipid translocation; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in perinuclear region of cytoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.69
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.69LOEUF
pLI 0.000
Z-score 3.63
OE 0.52 (0.39–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.69Z-score
OE missense 0.93 (0.87–0.99)
634 obs / 684.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.39–0.69)
0≤0.351.4
Missense OE?0.93 (0.87–0.99)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 34 / 65.7Missense obs/exp: 634 / 684.9Syn Z: -0.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATP9B · 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.

Search ClinicalTrials.gov →

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