PPP1R18

Chr 6

protein phosphatase 1 regulatory subunit 18

Also known as: HKMT1098, KIAA1949

NCBI Gene: 170954ENSG00000146112UniProt: Q6NYC8

Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.67
LOEUF
GOF
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?
0.67LOEUF
pLI 0.001
Z-score 2.82
OE 0.39 (0.24–0.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.01Z-score
OE missense 0.84 (0.76–0.93)
275 obs / 326.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.24–0.67)
0≤0.351.4
Missense OE?0.84 (0.76–0.93)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 10 / 25.3Missense obs/exp: 275 / 326.1Syn Z: 1.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPP1R18 · 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