KRT4 Chromosome 12
Keratin 4
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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 differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. 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
ENSG00000170477
Associated Conditions (2)
White sponge nevus 1
Inborn genetic diseases
Key Variants
RS188245182
Conflicting classifications of pathogenicity
White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1
Health Risk
RS190897990
Conflicting classifications of pathogenicity
White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1
Health Risk
RS200831095
Conflicting classifications of pathogenicity
White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1
Health Risk
RS201754946
Conflicting classifications of pathogenicity
Inborn genetic diseases, White sponge nevus 1, Inborn genetic diseases
Health Risk
RS201805600
Conflicting classifications of pathogenicity
White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1
Health Risk
RS369207280
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370759790
Conflicting classifications of pathogenicity
White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1
Health Risk
RS371421345
Conflicting classifications of pathogenicity
White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1
Health Risk
RS377329227
Conflicting classifications of pathogenicity
White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1
Health Risk
RS377399080
Conflicting classifications of pathogenicity
White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1
Health Risk
RS749943854
Conflicting classifications of pathogenicity
White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1
Health Risk
RS754420448
Conflicting classifications of pathogenicity
White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS188245182 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1 |
| RS190897990 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1 |
| RS200831095 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1 |
| RS201754946 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, White sponge nevus 1, Inborn genetic diseases |
| RS201805600 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1 |
| RS369207280 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370759790 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1 |
| RS371421345 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1 |
| RS377329227 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1 |
| RS377399080 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1 |
| RS749943854 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1 |
| RS754420448 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 1, Inborn genetic diseases, White sponge nevus 1 |
| RS587776844 | Health Risk | Pathogenic | White sponge nevus 1, White sponge nevus 1 |
| RS587776845 | Health Risk | Pathogenic | White sponge nevus 1, White sponge nevus 1 |
| RS62642055 | Health Risk | Pathogenic | White sponge nevus 1, White sponge nevus 1 |