PPP1R11

Chr 6

protein phosphatase 1 regulatory inhibitor subunit 11

Also known as: CFAP255, HCG-V, HCGV, IPP3, TCTE5, TCTEX5

NCBI Gene: 6992ENSG00000204619UniProt: O60927

This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008]

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
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.03
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.03LOEUF
pLI 0.358
Z-score 1.56
OE 0.22 (0.08–1.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.90Z-score
OE missense 0.44 (0.34–0.57)
40 obs / 90.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.22 (0.08–1.03)
0≤0.351.4
Missense OE?0.44 (0.34–0.57)
0≤0.61.4
Synonymous OE?0.77
0≤1.21.6
LoF obs/exp: 1 / 4.6Missense obs/exp: 40 / 90.8Syn Z: 0.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPP1R11 · 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