KRT2 Chromosome 12
Keratin 2
Upload your DNA to see your personal genotypes for variants in KRT2.
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 expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. 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
ENSG00000172867
Associated Conditions (4)
KRT2-related disorder
Ichthyosis bullosa of Siemens
Inborn genetic diseases
Exfoliative ichthyosis
Key Variants
RS1064795317
Conflicting classifications of pathogenicity
KRT2-related disorder, KRT2-related disorder
Health Risk
RS139954107
Conflicting classifications of pathogenicity
Ichthyosis bullosa of Siemens, Inborn genetic diseases, Ichthyosis bullosa of Siemens
Health Risk
RS150413930
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199836359
Conflicting classifications of pathogenicity
Ichthyosis bullosa of Siemens, Inborn genetic diseases, Ichthyosis bullosa of Siemens
Health Risk
RS202243677
Conflicting classifications of pathogenicity
Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
Health Risk
RS2498607342
Conflicting classifications of pathogenicity
KRT2-related disorder, KRT2-related disorder
Health Risk
RS374913826
Conflicting classifications of pathogenicity
Ichthyosis bullosa of Siemens, Inborn genetic diseases, Ichthyosis bullosa of Siemens
Health Risk
RS571471637
Conflicting classifications of pathogenicity
Health Risk
RS746933813
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755185776
Conflicting classifications of pathogenicity
Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
Health Risk
RS762825254
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2120939967
Likely pathogenic
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064795317 | Health Risk | Conflicting classifications of pathogenicity | KRT2-related disorder, KRT2-related disorder |
| RS139954107 | Health Risk | Conflicting classifications of pathogenicity | Ichthyosis bullosa of Siemens, Inborn genetic diseases, Ichthyosis bullosa of Siemens |
| RS150413930 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199836359 | Health Risk | Conflicting classifications of pathogenicity | Ichthyosis bullosa of Siemens, Inborn genetic diseases, Ichthyosis bullosa of Siemens |
| RS202243677 | Health Risk | Conflicting classifications of pathogenicity | Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens |
| RS2498607342 | Health Risk | Conflicting classifications of pathogenicity | KRT2-related disorder, KRT2-related disorder |
| RS374913826 | Health Risk | Conflicting classifications of pathogenicity | Ichthyosis bullosa of Siemens, Inborn genetic diseases, Ichthyosis bullosa of Siemens |
| RS571471637 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746933813 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755185776 | Health Risk | Conflicting classifications of pathogenicity | Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens |
| RS762825254 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2120939967 | Health Risk | Likely pathogenic | — |
| RS2498607356 | Health Risk | Likely pathogenic | Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens |
| RS57510142 | Health Risk | Likely pathogenic | Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens |
| RS61726452 | Health Risk | Likely pathogenic | Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens |
| RS137852628 | Health Risk | Pathogenic | Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens |
| RS137852629 | Health Risk | Pathogenic | Ichthyosis bullosa of Siemens, Exfoliative ichthyosis, Ichthyosis bullosa of Siemens |
| RS137852630 | Health Risk | Pathogenic | Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens |
| RS137852631 | Health Risk | Pathogenic | Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens |
| RS137852632 | Health Risk | Pathogenic | Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens |
| RS56829062 | Health Risk | Pathogenic | Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens |