KRT80: Keratin 80
Type II Keratin Gene Involved in Epithelial Integrity and Cancer
Gene Information Card
| Symbol | KRT80 |
|---|---|
| Full Name | Keratin 80 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 144501 ncbi.nlm.nih.gov/gene/144501 |
| Ensembl ID | ENSG00000167767 |
| UniProt ID | Q6KB66 |
| OMIM ID | 616680 |
| HGNC ID | 28928 |
| Aliases | KRT2B, KRT86, KRT2-8, KRT2.8 |
Description
KRT80 (keratin 80) is a member of the type II keratin family, which forms intermediate filaments in epithelial cells. It is expressed in various epithelial tissues and is involved in maintaining cellular structure and integrity. KRT80 has been implicated in cancer progression and other epithelial disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may contribute to epithelial-mesenchymal transition and tumor invasion. | NCBI Gene, COSMIC |
| Epidermolysis bullosa simplex (EBS) | Mutations in keratin genes can cause fragility of epithelial cells; KRT80 variants may be associated with similar phenotypes. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 10.2 | Medium |
| Breast | 8.1 | Low |
| Lung | 7.3 | Low |
| Prostate | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.3 | High expression |
| MCF7 (breast carcinoma) | 9.8 | Medium expression |
| HaCaT (keratinocyte) | 18.7 | Very high expression |
| HeLa (cervical carcinoma) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.1% | Potential loss of start codon; effect unknown |
| c.124G>A (p.Glu42Lys) | Missense | <0.1% | Rare variant; no functional data |
| c.1057C>T (p.Arg353Trp) | Missense | <0.1% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in KRT80.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in KRT80.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in KRT80.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • intermediate filament (GO:0005882) |
| • keratin filament (GO:0045095) | • epithelial cell differentiation (GO:0030855) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
Protein Summary
Keratin 80 is a 55 kDa type II keratin protein that heteropolymerizes with type I keratins to form intermediate filaments. It is predominantly expressed in stratified epithelial tissues and plays a role in mechanical stability and cell signaling. Post-translational modifications include phosphorylation, which may regulate filament dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT80 Knockout HEK293 Cell Line | EDJ-KQ10421 | Human | 144501 | Details Get a Quote |
| KRT80 Knockout HeLa Cell Line | EDJ-KQ36491 | Human | 144501 | Details Get a Quote |
| KRT80 Knockout A-549 Cell Line | EDJ-KQ37785 | Human | 144501 | Details Get a Quote |
| KRT80 Knockout HCT 116 Cell Line | EDJ-KQ37786 | Human | 144501 | Details Get a Quote |
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