LCE2C

Chr 1

late cornified envelope 2C

Also known as: LEP11

NCBI Gene: 353140ENSG00000187180UniProt: Q5TA81

Enables identical protein binding activity. Predicted to be involved in keratinization. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.93
LOEUF
Multiple*
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?
1.93LOEUF
pLI 0.072
Z-score -0.56
OE 1.81 (0.33–1.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.81Z-score
OE missense 1.63 (1.39–1.89)
106 obs / 65.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.81 (0.33–1.93)
0≤0.351.4
Missense OE?1.63 (1.39–1.89)
0≤0.61.4
Synonymous OE?1.79
0≤1.21.6
LoF obs/exp: 1 / 0.6Missense obs/exp: 106 / 65.0Syn Z: -3.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCE2C · 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