Gene: KRT2

Alternate names for this Gene: CK-2e|K2e|KRT2A|KRT2E|KRTE

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.13

Description of this Gene: keratin 2

Type of Gene: protein-coding

rs760067 in KRT2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs137852628 in KRT2 gene and Ichthyosis Bullosa of Siemens PMID 9036938 1997 A new keratin 2e mutation in ichthyosis bullosa of Siemens.

PMID 15949009 2005 Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.

PMID 10233323 1999 Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.

PMID 11531804 2001 New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.

PMID 11167982 2000 A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.

PMID 10084318 1999 A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.

PMID 10564334 1999 Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene.

PMID 7521371 1994 Ichthyosis bullosa of Siemens--a disease involving keratin 2e.

PMID 7524919 1994 Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.

PMID 10688369 2000 Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.

PMID 9204966 1997 A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens.

PMID 9804344 1998 Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.

PMID 10620137 2000 A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.

PMID 8077693 1994 Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.

PMID 9833038 1998 A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens.