KRT13: Keratin 13 Gene
Key player in epithelial integrity and oral cancer
Gene Information Card
| Symbol | KRT13 |
|---|---|
| Full Name | Keratin 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 3860 ncbi.nlm.nih.gov/gene/3860 |
| Ensembl ID | ENSG00000171401 |
| UniProt ID | P13646 |
| OMIM ID | 148065 |
| HGNC ID | 6415 |
| Aliases | CK13, K13, keratin 13 |
Description
KRT13 encodes keratin 13, a type I cytokeratin that pairs with keratin 4 to form intermediate filaments in non-cornified stratified squamous epithelia. It is essential for maintaining epithelial structural integrity and is expressed in oral mucosa, esophagus, and cervix. Mutations in KRT13 cause white sponge nevus, and altered expression is linked to oral squamous cell carcinoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| White Sponge Nevus | Missense mutations in the helix initiation motif disrupt filament assembly, leading to epithelial fragility and white spongy plaques. | ClinVar, OMIM |
| Oral Squamous Cell Carcinoma | Downregulation or loss of KRT13 expression correlates with epithelial-mesenchymal transition and tumor progression. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Esophagus | 89.3 | High |
| Oral Mucosa | 78.1 | High |
| Cervix | 45.2 | Medium |
| Skin | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 65.4 | Immortalized keratinocyte line |
| SCC-25 (oral squamous) | 12.8 | Downregulated in cancer |
| HeLa (cervical) | 38.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374A>G (p.Asn125Ser) | Missense | Rare | Disrupts keratin filament assembly; associated with white sponge nevus |
| c.427G>A (p.Glu143Lys) | Missense | Rare | Helix initiation motif mutation; pathogenic in white sponge nevus |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; reported in oral cancer |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) abolish KRT13 expression, contributing to epithelial fragility in oral cancer.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the helix initiation motif (e.g., p.Asn125Ser, p.Glu143Lys) act as dominant negatives, disrupting filament assembly in white sponge nevus.
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)
Protein Summary
Keratin 13 is a 54 kDa type I intermediate filament protein that heteropolymerizes with keratin 4 to form the cytoskeleton of non-cornified stratified epithelia. It provides mechanical resilience and is a marker of differentiated oral epithelial cells. Loss or mutation compromises epithelial integrity, leading to disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT13 Knockout HEK293 Cell Line | EDJ-KQ5090 | Human | 3860 | Details Get a Quote |
| KRT13 Knockout HCT 116 Cell Line | EDJ-KQ28035 | Human | 3860 | Details Get a Quote |
| KRT13 Knockout HeLa Cell Line | EDJ-KQ28036 | Human | 3860 | Details Get a Quote |
| KRT13 Knockout A-549 Cell Line | EDJ-KQ62236 | Human | 3860 | Details Get a Quote |
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