LCE3B
Late Cornified Envelope 3B
Gene Information Card
| Symbol | LCE3B |
|---|---|
| Full Name | Late Cornified Envelope 3B |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 353143 ncbi.nlm.nih.gov/gene/353143 |
| Ensembl ID | ENSG00000186847 |
| UniProt ID | Q5T5A8 |
| OMIM ID | 612603 |
| HGNC ID | 29460 |
| Aliases | LEP3B, LCE3B |
Description
LCE3B (Late Cornified Envelope 3B) is a protein-coding gene located in the epidermal differentiation complex on chromosome 1q21.3. It encodes a component of the cornified envelope, a specialized structure that forms beneath the plasma membrane of terminally differentiated keratinocytes, providing a protective barrier for the skin. LCE3B expression is induced during keratinocyte differentiation and is involved in skin barrier function and wound healing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | LCE3B deletion (LCE3C_LCE3B-del) increases susceptibility to psoriasis by impairing skin barrier repair after injury. The deletion removes both LCE3C and LCE3B, reducing the availability of late cornified envelope proteins for barrier restoration. | GWAS and case-control studies (PMID: 19169254, 19878766) confirm association with psoriasis risk. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | High |
| Esophagus | 3.2 | Medium |
| Vagina | 2.1 | Low |
| Oral mucosa | 1.8 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.0 | High expression; induced by calcium differentiation |
| NHEK (normal human epidermal keratinocytes) | 14.2 | High; upregulated during cornification |
| A431 (epidermoid carcinoma) | 8.5 | Moderate |
| HeLa | 0.3 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| LCE3C_LCE3B-del | Deletion (CNV) | ~30-40% in European populations | Loss of LCE3B and LCE3C; associated with psoriasis susceptibility |
| rs4112788 | SNP (intronic) | Allele frequency ~0.4 | Tag SNP for the LCE3C_LCE3B deletion; risk allele for psoriasis |
Mutation functional classification
Loss of Function (LOF)
The LCE3C_LCE3B deletion results in complete loss of LCE3B protein, impairing cornified envelope formation and skin barrier repair.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not applicable; LCE3B is not known to act in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • cornified envelope | • keratinocyte differentiation |
| • epidermis development | • structural molecule activity |
| • protein binding |
Pathways
• Keratinocyte differentiation
• Formation of the cornified envelope
Protein Summary
LCE3B is a small, proline-rich protein (approximately 10 kDa) that is cross-linked by transglutaminases to form part of the cornified envelope. It is expressed specifically in the upper layers of the epidermis and is essential for maintaining skin barrier integrity. The protein contains a conserved N-terminal domain and a central region rich in glutamine and lysine residues, which serve as substrates for transglutaminase-mediated cross-linking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LCE3B Knockout HEK293 Cell Line | EDJ-KQ14039 | Human | 353143 | Details Get a Quote |
| LCE3B Knockout HeLa Cell Line | EDJ-KQ59862 | Human | 353143 | Details Get a Quote |
| LCE3B Knockout A-549 Cell Line | EDJ-KQ68326 | Human | 353143 | Details Get a Quote |
| LCE3B Knockout HCT 116 Cell Line | EDJ-KQ76701 | Human | 353143 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
