PLPP4

Chr 10

phospholipid phosphatase 4

Also known as: DPPL2, PPAPDC1, PPAPDC1A

NCBI Gene: 196051ENSG00000203805UniProt: Q5VZY2

Enables diacylglycerol diphosphate phosphatase activity; identical protein binding activity; and phosphatidate phosphatase activity. Involved in phospholipid dephosphorylation and regulation of calcium ion import. Predicted to be located in plasma membrane. Predicted to be active in membrane. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.02
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.02LOEUF
pLI 0.000
Z-score 1.50
OE 0.57 (0.33–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.15Z-score
OE missense 0.75 (0.65–0.87)
124 obs / 165.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.33–1.02)
0≤0.351.4
Missense OE?0.75 (0.65–0.87)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 8 / 14.1Missense obs/exp: 124 / 165.8Syn Z: 0.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLPP4 · 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