KRT8 Gene (Keratin 8)
Intermediate Filament Protein Involved in Cellular Integrity and Liver Disease
Gene Information Card
| Symbol | KRT8 |
|---|---|
| Full Name | Keratin 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3856 ncbi.nlm.nih.gov/gene/3856 |
| Ensembl ID | ENSG00000170421 |
| UniProt ID | P05787 |
| OMIM ID | 148060 |
| HGNC ID | 6446 |
| Aliases | CYK8, K2C8, K8, CK8 |
Description
KRT8 encodes keratin 8, a type II intermediate filament protein that heteropolymerizes with keratin 18 to form the cytoskeleton of simple epithelial cells. It provides mechanical stability and is involved in cellular signaling, stress response, and protection from apoptosis. Mutations in KRT8 are associated with liver diseases such as cryptogenic cirrhosis and non-alcoholic fatty liver disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cryptogenic cirrhosis | Mutations disrupt keratin filament assembly, leading to hepatocyte fragility and Mallory-Denk body formation | ClinVar, OMIM |
| Non-alcoholic fatty liver disease (NAFLD) | KRT8 variants impair hepatocyte resilience to oxidative stress and lipid accumulation | NCBI, OMIM |
| Inflammatory bowel disease | Altered keratin expression in intestinal epithelium may compromise barrier function | NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 124.5 | High |
| Pancreas | 82.3 | High |
| Colon | 61.7 | Medium |
| Kidney | 45.2 | Medium |
| Lung | 38.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 156.2 | Hepatocellular carcinoma line |
| Caco-2 | 89.4 | Colorectal adenocarcinoma line |
| A549 | 42.1 | Lung carcinoma line |
| MCF7 | 35.6 | Breast adenocarcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly62Cys | Missense | Rare | Disrupts filament assembly, linked to cryptogenic cirrhosis |
| p.Arg341His | Missense | Rare | Associated with NAFLD susceptibility |
| p.Tyr54His | Missense | Rare | Reduces keratin network stability |
Mutation functional classification
Loss of Function (LOF)
Some missense mutations impair filament formation and cellular integrity.
Gain of Function (GOF)
Not established for KRT8.
Dominant Negative (DN)
Mutant keratin 8 can interfere with wild-type filament assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • intermediate filament cytoskeleton organization | • structural molecule activity |
| • protein heterodimerization activity | • response to stress |
| • apoptotic process |
Pathways
• Intermediate filament organization
• Keratinization
• Apoptosis modulation
Protein Summary
Keratin 8 is a 483-amino acid type II intermediate filament protein with a central alpha-helical rod domain flanked by non-helical head and tail domains. It forms obligate heteropolymers with keratin 18, providing mechanical resilience to simple epithelial cells. Post-translational modifications include phosphorylation, which regulates filament dynamics and cell survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT85 Knockout HEK293 Cell Line | EDJ-KQ4328 | Human | 3891 | Details Get a Quote |
| KRT8 Knockout HEK293 Cell Line | EDJ-KQ5087 | Human | 3856 | Details Get a Quote |
| KRT81 Knockout HEK293 Cell Line | EDJ-KQ5097 | Human | 3887 | Details Get a Quote |
| KRT82 Knockout HEK293 Cell Line | EDJ-KQ5098 | Human | 3888 | Details Get a Quote |
| KRT83 Knockout HEK293 Cell Line | EDJ-KQ5099 | Human | 3889 | Details Get a Quote |
| KRT86 Knockout HEK293 Cell Line | EDJ-KQ5100 | Human | 3892 | Details Get a Quote |
| KRT84 Knockout HEK293 Cell Line | EDJ-KQ5107 | Human | 3890 | Details Get a Quote |
| KRT80 Knockout HEK293 Cell Line | EDJ-KQ10421 | Human | 144501 | Details Get a Quote |
| KRT8 Knockout A-549 Cell Line | EDJ-KQ28025 | Human | 3856 | Details Get a Quote |
| KRT8 Knockout HCT 116 Cell Line | EDJ-KQ28026 | Human | 3856 | Details Get a Quote |
| KRT8 Knockout HeLa Cell Line | EDJ-KQ28027 | Human | 3856 | Details Get a Quote |
| KRT81 Knockout A-549 Cell Line | EDJ-KQ28045 | Human | 3887 | Details Get a Quote |
| KRT81 Knockout HCT 116 Cell Line | EDJ-KQ28046 | Human | 3887 | Details Get a Quote |
| KRT81 Knockout HeLa Cell Line | EDJ-KQ28047 | Human | 3887 | Details Get a Quote |
| KRT83 Knockout A-549 Cell Line | EDJ-KQ28048 | Human | 3889 | Details Get a Quote |
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