EVPL Gene - Envoplakin
Key Component of the Cornified Envelope in Epidermal Differentiation
Gene Information Card
| Symbol | EVPL |
|---|---|
| Full Name | Envoplakin |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 2125 ncbi.nlm.nih.gov/gene/2125 |
| Ensembl ID | ENSG00000167880 |
| UniProt ID | Q92817 |
| OMIM ID | 601590 |
| HGNC ID | 3503 |
| Aliases | EVPL1, PTHR2 |
Description
The EVPL gene encodes envoplakin, a member of the plakin family of proteins. Envoplakin is a component of the cornified envelope of keratinocytes, essential for the formation of the epidermal barrier. It cross-links with other envelope proteins to provide mechanical strength and integrity to the skin.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Erythrokeratoderma variabilis et progressiva (EKVP) | Mutations in EVPL disrupt cornified envelope assembly, leading to abnormal keratinocyte adhesion and differentiation. | OMIM #617524 |
| Paraneoplastic pemphigus | Autoantibodies against envoplakin contribute to acantholysis and blistering in this autoimmune disorder. | ClinVar, literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 58.2 | High |
| Esophagus | 32.1 | Medium |
| Oral mucosa | 28.5 | Medium |
| Cervix, uterine | 15.3 | Low |
| Vagina | 12.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 45.6 | High expression |
| A431 (epidermoid carcinoma) | 38.2 | High expression |
| NHEK (normal human epidermal keratinocytes) | 52.1 | High expression |
| HeLa | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2032C>T (p.Arg678Cys) | Missense | Rare | Alters protein structure, associated with EKVP |
| c.2476delG (p.Val826Trpfs*12) | Frameshift | Rare | Loss of function, truncated protein |
| c.1123A>G (p.Thr375Ala) | Missense | Unknown | Potential impact on protein stability |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated envoplakin, impairing cornified envelope formation.
Gain of Function (GOF)
No evidence of gain-of-function mutations in EVPL.
Dominant Negative (DN)
Missense mutations may exert dominant-negative effects by interfering with plakin network assembly.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • cornified envelope (GO:0001530) |
| • keratinocyte differentiation (GO:0030216) | • intermediate filament (GO:0005882) |
| • keratin filament (GO:0045095) |
Pathways
• Cornified envelope formation (Reactome: R-HSA-6809371)
• Keratinization (KEGG: hsa04940)
Protein Summary
Envoplakin is a 210 kDa protein localized to desmosomes and the plasma membrane of keratinocytes. It contains a plakin domain and a rod domain, enabling it to link intermediate filaments to the cornified envelope. Post-translational cross-linking by transglutaminases stabilizes the envelope during terminal differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EVPL Knockout HEK293 Cell Line | EDJ-KQ4567 | Human | 2125 | Details Get a Quote |
| EVPLL Knockout HEK293 Cell Line | EDJ-KQ13339 | Human | 645027 | Details Get a Quote |
| EVPL Knockout A-549 Cell Line | EDJ-KQ27219 | Human | 2125 | Details Get a Quote |
| EVPL Knockout HCT 116 Cell Line | EDJ-KQ27220 | Human | 2125 | Details Get a Quote |
| EVPL Knockout HeLa Cell Line | EDJ-KQ27221 | Human | 2125 | Details Get a Quote |
| EVPLL Knockout HeLa Cell Line | EDJ-KQ42817 | Human | 645027 | Details Get a Quote |
| EVPLL Knockout A-549 Cell Line | EDJ-KQ69049 | Human | 645027 | Details Get a Quote |
| EVPLL Knockout HCT 116 Cell Line | EDJ-KQ77404 | Human | 645027 | Details Get a Quote |
