ATP8A1

Chr 4

ATPase phospholipid transporting 8A1

Also known as: ATPASEII, ATPIA, ATPP2

NCBI Gene: 10396ENSG00000124406UniProt: Q9Y2Q0OMIM: 609542

The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating 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
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.35
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
📖
GeneReview available — ATP8A1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.35LOEUF
pLI 0.200
Z-score 6.24
OE 0.23 (0.16–0.35)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.61Z-score
OE missense 0.70 (0.65–0.76)
427 obs / 608.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.23 (0.16–0.35)
0≤0.351.4
Missense OE?0.70 (0.65–0.76)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 18 / 77.2Missense obs/exp: 427 / 608.3Syn Z: -0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATP8A1 · 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