KRT5 Chromosome 12
Keratin 5
Upload your DNA to see your personal genotypes for variants in KRT5.
What This Gene Does
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type II
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000186081
Associated Conditions (26)
Epidermolysis bullosa simplex
Inborn genetic diseases
KRT5-related disorder
Koebner type
Epidermolysis bullosa simplex 1C
localized
Epidermolysis bullosa simplex 2A
generalized severe
Epidermolysis bullosa simplex 2B
generalized intermediate
Epidermolysis bullosa simplex 2C
EPIDERMOLYSIS BULLOSA SIMPLEX 2D
GENERALIZED SEVERE
AUTOSOMAL RECESSIVE
Epidermolysis bullosa simplex 1A
Epidermolysis bullosa simplex 2d
generalized
intermediate or severe
autosomal recessive
Epidermolysis bullosa simplex with migratory circinate erythema
+6 more conditions
Key Variants
RS1264710617
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
Health Risk
RS140352947
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex, Inborn genetic diseases, Epidermolysis bullosa simplex
Health Risk
RS143566042
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146022149
Conflicting classifications of pathogenicity
KRT5-related disorder, KRT5-related disorder
Health Risk
RS146136560
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex, Inborn genetic diseases, Epidermolysis bullosa simplex
Health Risk
RS202104381
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
Health Risk
RS2498409143
Conflicting classifications of pathogenicity
KRT5-related disorder, KRT5-related disorder
Health Risk
RS267607448
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex 1C
Health Risk
RS543574061
Conflicting classifications of pathogenicity
Health Risk
RS552561992
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS59184265
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
Health Risk
RS62642056
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2A, generalized severe
Health Risk
All Variants (91)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS267607446 | Health Risk | Pathogenic | — |
| RS267607451 | Health Risk | Pathogenic | — |
| RS267607455 | Health Risk | Pathogenic | — |
| RS267607456 | Health Risk | Pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS267607457 | Health Risk | Pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS267607458 | Health Risk | Pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS376462752 | Health Risk | Pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS56922686 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 1A, generalized severe, Epidermolysis bullosa simplex 2B |
| RS57142010 | Health Risk | Pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS57187183 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 2C, localized, Epidermolysis bullosa simplex 2C |
| RS57348201 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 2B, generalized intermediate, Epidermolysis bullosa simplex 2B |
| RS57499817 | Health Risk | Pathogenic | Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex, KRT5-related disorder |
| RS57599352 | Health Risk | Pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2B, generalized intermediate |
| RS57890479 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 2A, generalized severe, Epidermolysis bullosa simplex 2A |
| RS58058996 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 2C, localized, Epidermolysis bullosa simplex 1C |
| RS58072617 | Health Risk | Pathogenic | 7 conditions, Epidermolysis bullosa simplex, Koebner type |
| RS58163069 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 2B, generalized intermediate, Epidermolysis bullosa simplex 2B |
| RS58480900 | Health Risk | Pathogenic | — |
| RS58619430 | Health Risk | Pathogenic | — |
| RS58751565 | Health Risk | Pathogenic | Dowling-Degos disease 1, Dowling-Degos disease 1 |
| RS58766676 | Health Risk | Pathogenic | Epidermolysis bullosa, Epidermolysis bullosa |
| RS59190510 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 2A, generalized severe, Epidermolysis bullosa simplex 1A |
| RS59730172 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 2C, localized, Epidermolysis bullosa simplex 2C |
| RS59840738 | Health Risk | Pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2B, generalized intermediate |
| RS60271599 | Health Risk | Pathogenic | — |
| RS60715293 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 1A, generalized severe, Epidermolysis bullosa simplex 1A |
| RS61126080 | Health Risk | Pathogenic | Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex, Epidermolysis bullosa simplex with mottled pigmentation |
| RS61297109 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 1C, localized, Dowling-Degos disease 1 |
| RS61348424 | Health Risk | Pathogenic | Dowling-Degos disease 1, Dowling-Degos disease 1 |
| RS61348633 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 2A, generalized severe, Epidermolysis bullosa simplex 2A |
| RS61495052 | Health Risk | Pathogenic | — |
| RS763608512 | Health Risk | Pathogenic | EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE |
| RS886039403 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 2A, generalized severe, Epidermolysis bullosa simplex 2A |
| RS1938615785 | Health Risk | Pathogenic/Likely pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS1938666838 | Health Risk | Pathogenic/Likely pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS2498407244 | Health Risk | Pathogenic/Likely pathogenic | Dowling-Degos disease 1, Dowling-Degos disease 1 |
| RS56729325 | Health Risk | Pathogenic/Likely pathogenic | KRT5-related disorder, Epidermolysis bullosa, KRT5-related disorder |
| RS59092197 | Health Risk | Pathogenic/Likely pathogenic | Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex with mottled pigmentation |
| RS59243757 | Health Risk | Pathogenic/Likely pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS60586163 | Health Risk | Pathogenic/Likely pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2C, localized |
| RS121912476 | Health Risk | risk factor | Epidermolysis bullosa simplex 2C, localized, modifier of |