ATP8B2

Chr 1

ATPase phospholipid transporting 8B2

Also known as: ATPID

NCBI Gene: 57198ENSG00000143515UniProt: P98198OMIM: 605867

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.41
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.41LOEUF
pLI 0.006
Z-score 5.35
OE 0.27 (0.18–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.87Z-score
OE missense 0.70 (0.65–0.75)
512 obs / 730.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.27 (0.18–0.41)
0≤0.351.4
Missense OE?0.70 (0.65–0.75)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 17 / 62.7Missense obs/exp: 512 / 730.1Syn Z: 1.09

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

ATP8B2 · 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