Epidermolysis bullosa simplex, Koebner type: genes and variants
Epidermolysis bullosa simplex, Koebner type is linked to 2 analyzed proteins (KRT14 and KRT5). 8 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Epidermolysis bullosa simplex, Koebner type
KRT14: Keratin, type I cytoskeletal 14
It pairs with keratin 5 to provide mechanical strength to basal epidermal keratinocytes. Dominant-negative variants are a major cause of epidermolysis bullosa simplex, while other variants can cause pigmentation disorders or ectodermal phenotypes.
7 disease-causing and 0 uncertain variants in KRT14 are linked to Epidermolysis bullosa simplex, Koebner type.
KRT5: Keratin, type II cytoskeletal 5
It pairs with keratin 14 to form the primary intermediate-filament scaffold of basal epidermal keratinocytes. Dominant pathogenic variants are a major cause of epidermolysis bullosa simplex, while other alleles can cause pigmentary disorders such as Dowling-Degos disease.
1 disease-causing and 0 uncertain variants in KRT5 are linked to Epidermolysis bullosa simplex, Koebner type.
Where Epidermolysis bullosa simplex, Koebner type variants cluster
- KRT14 Coil 1A (positions 115–150): 5 of 7 disease-causing changes, 9.4× more than its size predicts.
Known disease-causing variants in Epidermolysis bullosa simplex, Koebner type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT14 R125H | 125 | IF rod | Disease-causing (★★) |
| KRT14 R125C | 125 | IF rod | Disease-causing (★★) |
| KRT14 R125P | 125 | IF rod | Disease-causing (★★) |
| KRT14 R125G | 125 | IF rod | Disease-causing (★★) |
| KRT14 R125S | 125 | IF rod | Disease-causing (★★) |
| KRT14 V270M | 270 | IF rod | Disease-causing (★) |
| KRT14 M272R | 272 | IF rod | Disease-causing |
| KRT5 V465G | 465 | IF rod | Disease-causing |
Which prediction tools work for Epidermolysis bullosa simplex, Koebner type
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 94 out of 100
- PolyPhen-2: 93 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Same protein, different disease
- Dermatopathia pigmentosa reticularis is also caused by KRT14 variants; they fall mostly in different places as the Epidermolysis bullosa simplex, Koebner type variants (8 disease-causing).
- Epidermolysis bullosa simplex is also caused by KRT14 variants; they fall mostly in different places as the Epidermolysis bullosa simplex, Koebner type variants (6 disease-causing).
- Epidermolysis bullosa simplex 1C, localized is also caused by KRT14 variants; they fall mostly in different places as the Epidermolysis bullosa simplex, Koebner type variants (4 disease-causing).
- Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive is also caused by KRT14 variants; they fall mostly in different places as the Epidermolysis bullosa simplex, Koebner type variants (4 disease-causing).
- Epidermolysis bullosa simplex is also caused by KRT5 variants; they fall mostly in different places as the Epidermolysis bullosa simplex, Koebner type variants (18 disease-causing).
- Epidermolysis bullosa simplex 2B, generalized intermediate is also caused by KRT5 variants; they fall mostly in different places as the Epidermolysis bullosa simplex, Koebner type variants (5 disease-causing).
- Epidermolysis bullosa simplex 1C, localized is also caused by KRT5 variants; they fall mostly in different places as the Epidermolysis bullosa simplex, Koebner type variants (3 disease-causing).
Diseases related to Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex, also linked to KRT14 and KRT5
- Epidermolysis bullosa simplex 1A, generalized severe, also linked to KRT14 and KRT5
- Epidermolysis bullosa simplex 1C, localized, also linked to KRT14 and KRT5
- Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, also linked to KRT14 and KRT5
- Dermatopathia pigmentosa reticularis, also linked to KRT14
- Epidermolysis bullosa simplex 2B, generalized intermediate, also linked to KRT5
- Epidermolysis bullosa, also linked to KRT5
- Epidermolysis bullosa simplex 2A, generalized severe, also linked to KRT5
- Dowling-Degos disease, also linked to KRT5
- Basal cell carcinoma, also linked to KRT5
- Epidermolysis bullosa simplex 2C, localized, also linked to KRT5
- Epidermolysis bullosa simplex with mottled pigmentation, also linked to KRT5
Frequently asked questions
Which genes are linked to Epidermolysis bullosa simplex, Koebner type?
In CATVariant, Epidermolysis bullosa simplex, Koebner type is linked to 2 analyzed proteins: KRT14 (Keratin, type I cytoskeletal 14) and KRT5 (Keratin, type II cytoskeletal 5).
How many genetic variants are linked to Epidermolysis bullosa simplex, Koebner type?
9 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Epidermolysis bullosa simplex, Koebner type look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Epidermolysis bullosa simplex, Koebner type?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.94, based on 8 disease-causing and 30 harmless variants).
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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