MTMR11

Chr 1

myotubularin related protein 11

Also known as: CRA

NCBI Gene: 10903ENSG00000014914UniProt: A4FU01

Predicted to enable phosphatidylinositol-3-phosphate phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.09
LOEUF
—
Mechanism
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?
1.09LOEUF
pLI 0.000
Z-score 1.07
OE 0.83 (0.64–1.09)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.98Z-score
OE missense 0.86 (0.79–0.94)
343 obs / 398.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.83 (0.64–1.09)
0≤0.351.4
Missense OE?0.86 (0.79–0.94)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 39 / 46.9Missense obs/exp: 343 / 398.3Syn Z: -0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MTMR11 · 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