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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LCE1D
late cornified envelope 1D
Chromosome 1 Β· 1q21.3
NCBI Gene: 353134Ensembl: ENSG00000172155.10HGNC: HGNC:29465UniProt: Q5T752
8PubMed Papers
7Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular response to calcium ionprotein bindingidentical protein bindingcytoplasmneurodegenerative diseaseasthmaEczematoid dermatitisdermatitis
✦AI Summary

LCE1D (late cornified envelope 1D) is a precursor protein for the cornified envelope of the stratum corneum, contributing to epidermal barrier function 1. The gene exhibits calcium-responsive expression and functions in protein-binding interactions within the cytoplasm and perinuclear regions [GO annotations]. LCE1D is recognized as a skin-specific mRNA biomarker, successfully detected in contact traces including fingerprints and clothing, making it valuable for forensic tissue identification when combined with DNA profiling methods 1. A stop codon mutation (rs41268500) in LCE1D has been identified as a putatively functional polymorphism in the epidermal differentiation complex, though association testing did not reveal significant eczema association compared to other EDC variants like SPRR3 2. Recent transcriptomic analyses identified LCE1D as an upregulated hub gene in human dermal fibroblasts responding to mechanical stretch at both early (5h) and late (24h) stages, implicating it in skin development and tissue expansion responses 3. Additionally, LCE1D was identified as a differentially expressed gene distinguishing subtypes of coronary artery disease patients, though its specific role in vascular pathology requires further investigation 4. Overall, LCE1D functions primarily in epidermal barrier maintenance with emerging roles in tissue regeneration and potential systemic disease associations.

Sources cited
1
LCE1D is a skin-specific mRNA biomarker successfully detected in contact traces for tissue identification
PMID: 25600397
2
LCE1D contains a stop codon mutation (rs41268500) as a putatively functional polymorphism in the epidermal differentiation complex
PMID: 21490620
3
LCE1D is an upregulated hub gene in human dermal fibroblasts responding to mechanical stretch at both early and late stages, related to skin development
PMID: 35510126
4
LCE1D is a differentially expressed gene distinguishing coronary artery disease subtypes
PMID: 39976036
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜7
neurodegenerative diseaseOpen Targets
0.32Weak
asthmaOpen Targets
0.30Weak
Eczematoid dermatitisOpen Targets
0.21Weak
dermatitisOpen Targets
0.17Weak
atopic eczemaOpen Targets
0.03Suggestive
meningeal tuberculosisOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LCE1AProtein interaction99%LCE1BProtein interaction95%LCE2BProtein interaction92%LCE6AProtein interaction88%LCE3BProtein interaction85%LCE5AProtein interaction82%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
LCE1DLCE1ALCE1BLCE2BLCE6ALCE3BLCE5A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q5T752
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.87LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF1.10 [0.52–1.87]
RankingsWhere LCE1D stands among ~20K protein-coding genes
  • #17,630of 20,598
    Most Researched8
  • #17,009of 17,882
    Most Constrained (LOEUF)1.87
Genes detectedLCE1D
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Machine Learning for Chromatin Regulators in Coronary Artery Disease Diagnosis.
PMID: 39976036
Cardiovasc Hematol Disord Drug Targets Β· 2025
1.00
2
RNA/DNA co-analysis from human skin and contact traces--results of a sixth collaborative EDNAP exercise.
PMID: 25600397
Forensic Sci Int Genet Β· 2015
0.75
3
Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.
PMID: 21490620
J Invest Dermatol Β· 2011
0.50
4
Identification of Common Hub Genes in Human Dermal Fibroblasts Stimulated by Mechanical Stretch at Both the Early and Late Stages.
PMID: 35510126
Front Surg Β· 2022
0.25