MUC22

Chr 6

mucin 22

Also known as: PBMUCL1

NCBI Gene: 100507679ENSG00000261272UniProt: E2RYF6

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.71
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?
0.71LOEUF
pLI 0.014
Z-score 2.42
OE 0.36 (0.20–0.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.65Z-score
OE missense 0.75 (0.70–0.80)
642 obs / 861.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.36 (0.20–0.71)
0≤0.351.4
Missense OE?0.75 (0.70–0.80)
0≤0.61.4
Synonymous OE?0.74
0≤1.21.6
LoF obs/exp: 6 / 16.7Missense obs/exp: 642 / 861.3Syn Z: 3.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MUC22 · 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