EVPLL Gene: Envoplakin-Like Protein - Function, Disease Associations, and Expression
Comprehensive biomedical overview of EVPLL, including genomic context, protein function, tissue expression, and clinical relevance.
Gene Information Card
| Symbol | EVPLL |
|---|---|
| Full Name | envoplakin-like protein |
| Gene Type | protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 100507436 ncbi.nlm.nih.gov/gene/100507436 |
| Ensembl ID | ENSG00000284621 |
| UniProt ID | A0A1B0GTV6 |
| OMIM ID | Not available |
| HGNC ID | HGNC:44149 |
| Aliases | None |
Description
EVPLL (envoplakin-like protein) is a protein-coding gene located on chromosome 1q23.3. It is predicted to encode a protein with similarity to envoplakin, a component of desmosomes and the cornified envelope of keratinocytes. The function of EVPLL is not fully characterized, but it may play a role in epithelial cell adhesion or skin barrier formation. Expression data suggest low to moderate levels in certain tissues, but detailed functional studies are lacking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease links in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not available | Not available |
| Esophagus | Not available | Not available |
| Other tissues | Not available | Not available |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No cell line data | Not available | No expression data from cell lines in public resources. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not available | Not available | No mutations reported in COSMIC or ClinVar. |
Mutation functional classification
Loss of Function (LOF)
No evidence
Gain of Function (GOF)
No evidence
Dominant Negative (DN)
No evidence
View complete mutation data：
Protein Summary
The EVPLL gene encodes a protein of unknown function, predicted to be similar to envoplakin. It may be involved in structural roles in epithelial cells, but experimental validation is lacking. The protein sequence is available from UniProt (A0A1B0GTV6), but no functional domains or post-translational modifications have been characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EVPLL Knockout HEK293 Cell Line | EDJ-KQ13339 | Human | 645027 | 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 |
