KRT76: Keratin 76 Gene
A type II cytokeratin involved in epithelial integrity and expressed in oral mucosa and skin appendages.
Gene Information Card
| Symbol | KRT76 |
|---|---|
| Full Name | keratin 76 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 51350 ncbi.nlm.nih.gov/gene/51350 |
| Ensembl ID | ENSG00000131746 |
| UniProt ID | Q01546 |
| OMIM ID | 616876 |
| HGNC ID | 28933 |
| Aliases | KRT2B, KRT2P, KRT2-2P, KRT2-2, KRT2B-2 |
Description
KRT76 encodes keratin 76, a type II cytokeratin (basic keratin) expressed in the suprabasal layers of stratified epithelia, particularly in oral mucosa, tongue, esophagus, and skin appendages. It forms heteropolymers with type I keratins to provide structural integrity to epithelial cells. Mutations in KRT76 are associated with oral epithelial disorders and have been implicated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oral squamous cell carcinoma | Altered KRT76 expression may contribute to epithelial-mesenchymal transition and tumor progression. | COSMIC; PMID: 25631445 |
| Esophageal squamous cell carcinoma | Downregulation of KRT76 is observed in tumor tissues, suggesting a tumor suppressor role. | NCBI Gene; PMID: 23542377 |
| Palmoplantar keratoderma | Rare missense variants in KRT76 have been reported in patients with focal palmoplantar keratoderma. | ClinVar; PMID: 22995991 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Oral mucosa | 89.2 | High |
| Tongue | 76.5 | High |
| Esophagus | 62.1 | High |
| Skin | 34.8 | Medium |
| Vagina | 28.3 | Medium |
| Prostate | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 45.6 | Immortalized keratinocyte line |
| SCC-25 (oral squamous) | 12.3 | Oral cancer cell line |
| A431 (epidermoid) | 8.9 | Epidermoid carcinoma line |
| HeLa (cervical) | 2.1 | Cervical cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.143C>T (p.Thr48Met) | Missense | Rare | Reported in focal palmoplantar keratoderma; potential loss of intermediate filament stability |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Associated with oral leukoplakia; functional impact unknown |
| c.1045_1046insA | Frameshift | <0.1% | Predicted loss-of-function; observed in esophageal cancer (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated protein and loss of filament formation.
Gain of Function (GOF)
No evidence of gain-of-function mutations in KRT76.
Dominant Negative (DN)
Missense mutations in the rod domain may disrupt keratin heteropolymer assembly, acting in a dominant-negative manner.
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) |
| • epidermis development (GO:0008544) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809374)
Protein Summary
Keratin 76 is a 639-amino acid type II cytokeratin with a central alpha-helical rod domain flanked by non-helical head and tail domains. It heteropolymerizes with type I keratins (e.g., KRT16, KRT17) to form intermediate filaments that provide mechanical resilience to epithelial cells. The protein is highly expressed in stratified squamous epithelia of the oral cavity, esophagus, and skin appendages. Post-translational modifications include phosphorylation and glycosylation, which regulate filament assembly and turnover.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT76 Knockout HEK293 Cell Line | EDJ-KQ10359 | Human | 51350 | Details Get a Quote |
| KRT76 Knockout HeLa Cell Line | EDJ-KQ56294 | Human | 51350 | Details Get a Quote |
| KRT76 Knockout A-549 Cell Line | EDJ-KQ64783 | Human | 51350 | Details Get a Quote |
| KRT76 Knockout HCT 116 Cell Line | EDJ-KQ73231 | Human | 51350 | Details Get a Quote |
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