IVL (Involucrin) Gene
Key structural component of the cornified envelope in keratinocytes
Gene Information Card
| Symbol | IVL |
|---|---|
| Full Name | Involucrin |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 3713 ncbi.nlm.nih.gov/gene/3713 |
| Ensembl ID | ENSG00000132467 |
| UniProt ID | P07476 |
| OMIM ID | 147360 |
| HGNC ID | 6187 |
| Aliases | INV |
Description
The IVL gene encodes involucrin, a protein that serves as a major component of the cornified envelope in stratified squamous epithelia. Involucrin is initially synthesized in the upper spinous layers of the epidermis and becomes cross-linked by transglutaminases during terminal differentiation, contributing to the formation of a resilient barrier that protects against environmental insults and water loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | Altered involucrin expression and distribution in psoriatic plaques contribute to defective barrier function and hyperproliferation. | NCBI Gene, OMIM |
| Squamous cell carcinoma | Reduced or absent involucrin expression correlates with loss of differentiation and tumor progression. | NCBI Gene, COSMIC |
| Erythrokeratoderma variabilis | Mutations in IVL have been associated with this rare skin disorder, though evidence is limited. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 108.5 | High |
| Esophagus | 45.2 | Medium |
| Cervix | 30.1 | Medium |
| Vagina | 25.8 | Medium |
| Oral mucosa | 20.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 120.0 | High expression; used as model for epidermal differentiation |
| A431 (epidermoid carcinoma) | 85.0 | Moderate expression; reduced in undifferentiated states |
| NHEK (normal human epidermal keratinocytes) | 110.0 | High expression; reflects normal differentiation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation; likely loss of function |
| c.789_790insG (p.Gly264fs) | Frameshift | <0.01% | Frameshift; predicted loss of function |
| c.1567G>A (p.Gly523Arg) | Missense | <0.01% | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in IVL are predicted to cause loss of function by truncating the protein, impairing cornified envelope assembly.
Gain of Function (GOF)
No gain-of-function mutations have been reported for IVL.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for IVL.
View complete mutation data：
Gene Ontology (GO)
| • Cornified envelope | • Keratinocyte differentiation |
| • Structural constituent of skin epidermis | • Cross-linking of proteins |
| • Cell-cell junction |
Pathways
• Keratinocyte differentiation
• Formation of the cornified envelope
• Epidermal development
Protein Summary
Involucrin is a 68 kDa protein rich in glutamine and lysine residues, which serve as substrates for transglutaminase-mediated cross-linking. It is initially deposited on the inner surface of the plasma membrane in differentiating keratinocytes and becomes covalently linked to other envelope proteins (e.g., loricrin, filaggrin) to form a rigid, insoluble barrier. Involucrin expression is a hallmark of terminal differentiation in stratified epithelia and is frequently downregulated in squamous cell carcinomas.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IVL Knockout HEK293 Cell Line | EDJ-KQ50401 | Human | 3713 | Details Get a Quote |
| IVL Knockout HeLa Cell Line | EDJ-KQ53689 | Human | 3713 | Details Get a Quote |
| IVL Knockout A-549 Cell Line | EDJ-KQ62166 | Human | 3713 | Details Get a Quote |
| IVL Knockout HCT 116 Cell Line | EDJ-KQ70653 | Human | 3713 | Details Get a Quote |
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