PPM1H

Chr 12

protein phosphatase, Mg2+/Mn2+ dependent 1H

Also known as: ARHCL1, NERPP-2C, URCC2

NCBI Gene: 57460ENSG00000111110UniProt: Q9ULR3

Enables identical protein binding activity and phosphoprotein phosphatase activity. Predicted to be involved in signal transduction. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating 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
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.40
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.40LOEUF
pLI 0.792
Z-score 3.64
OE 0.18 (0.09–0.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.51Z-score
OE missense 0.75 (0.67–0.84)
223 obs / 296.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.09–0.40)
0≤0.351.4
Missense OE?0.75 (0.67–0.84)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 4 / 22.8Missense obs/exp: 223 / 296.3Syn Z: 0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPM1H · 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