LCE2B

Chr 1

late cornified envelope 2B

Also known as: LEP10, SPRL1B, XP5

NCBI Gene: 26239ENSG00000159455UniProt: O14633

This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cultured keratinocytes or in any other tested cell types or tissues. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.88
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?
1.88LOEUF
pLI 0.098
Z-score 0.12
OE 0.88 (0.25–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.84Z-score
OE missense 1.65 (1.41–1.91)
104 obs / 62.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.88 (0.25–1.88)
0≤0.351.4
Missense OE?1.65 (1.41–1.91)
0≤0.61.4
Synonymous OE?1.59
0≤1.21.6
LoF obs/exp: 1 / 1.1Missense obs/exp: 104 / 62.9Syn Z: -2.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCE2B · 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