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Keratin 2

K2e, Keratin-2, KRT2, KRT2E
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] (from NCBI)
Top mentioned proteins: cytokeratin, ACID, K10, HAIR, POLYMERASE
Papers on K2e
Keratins K2 and K10 are essential for the epidermal integrity of plantar skin.
New
Eckhart et al., Vienna, Austria. In J Dermatol Sci, Jan 2016
METHODS: Krt2(-/-) Krt10(-/-) mice were generated by crossing Krt2(-/-) and Krt10(-/-) mice.
The organic osmolyte betaine induces keratin 2 expression in rat epidermal keratinocytes - A genome-wide study in UVB irradiated organotypic 3D cultures.
New
Pasonen-Seppänen et al., Kuopio, Finland. In Toxicol In Vitro, Jan 2016
Among the 89 genes influenced by betaine, the differentiation marker keratin 2 showed the highest upregulation, which was also confirmed at protein level.
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
New
Fischer et al., Freiburg, Germany. In Acta Derm Venereol, Dec 2015
Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism.
Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10.
New
McGrath et al., Nagoya, Japan. In Clin Exp Dermatol, Oct 2015
No additional mutations were identified in the genes for keratin 1 (KRT1) keratin 2 (KRT2), connexin 31 (GJB3) or connexin 30.3 (GJB4) that might account for the clinical heterogeneity seen in this family.
Ferrocenyl-functionalized Sn/Se and Sn/Te complexes: synthesis, reactivity, optical, and electronic properties.
Dehnen et al., Marburg an der Lahn, Germany. In Inorg Chem, 2015
An adamantane-shaped, ferrocenyl-substituted tin selenide complex, [(FcSn)4Se6] (1; Fc = ferrocenyl), and a ferrocenyl-substituted tin telluride five-membered ring, [(Fc2Sn)3Te2] (2), were obtained upon treatment of FcSnCl3 with K2E (E = Se, Te).
Mapping the global mRNA transcriptome during development of the murine first molar.
Osmundsen et al., Oslo, Norway. In Front Genet, 2014
Differentially expressed genes (DE) not described earlier during murine tooth development; Inositol 1, 4, 5-triphosphate receptor 3 (Itpr3), metallothionein 1(Mt1), cyclin-dependent kinase 4 (Cdk4), cathepsin D (Ctsd), keratin complex 2, basic, gene 6a (Krt2-6a), cofilin 1, non-muscle (Cfl1), cyclin 2 (Ccnd2), were verified by real-time RT-PCR.
Maslinic acid, a triterpenic anti-tumoural agent, interferes with cytoskeleton protein expression in HT29 human colon-cancer cells.
Peragón et al., Granada, Spain. In J Proteomics, 2013
One group of these proteins, made up of keratin 2, keratin 8, keratin type II cytoskeletal 8, keratin type I cytoskeletal 9, keratin type I cytoskeletal 18, cytokeratins 18 and 19, and β-actin, exert a structural function, whilst another group, made up of lamin B1, gelsolin 1, septin 2, villin 1, actin-related protein 2 and moesin, is related to the nucleation of actin and cytoskeleton formation.
Genetic variation in the 5'UTR of the KRT2.13 gene of sheep.
Hickford et al., New Zealand. In Anim Sci J, 2012
KRT2.13 is a type II keratin wool intermediate filament (IF) protein.
Changes in keratin expression during metastatic progression of breast cancer: impact on the detection of circulating tumor cells.
Pantel et al., Hamburg, Germany. In Clin Cancer Res, 2012
EXPERIMENTAL DESIGN: Protein expression of keratin 2, 4-10, 13-16, 18, and 19 were assessed by a cocktail of antibodies (C11, AE1, AE3, and K7) and keratin antibodies C11 and A45-B/B3 alone in 11 breast cancer cell lines and 50 primary breast carcinomas and their lymph node metastases.
A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens.
GeneRIF
Nakano et al., Hirosaki, Japan. In Br J Dermatol, 2007
novel H1 domain mutation in a family with icthyosis bullosa Siemens
Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.
Review
Shimizu et al., Sapporo, Japan. In Br J Dermatol, 2005
To detect the pathogenic mutations, we performed direct sequencing of the entire coding regions of KRT2E encoding K2e in the patients and healthy family members.
Expression of keratin K2e in cutaneous and oral lesions: association with keratinocyte activation, proliferation, and keratinization.
GeneRIF
Waseem et al., London, United Kingdom. In Am J Pathol, 2003
influence of keratinocyte activation, proliferation, and keratinization on K2e expression in samples of cutaneous and oral lesions (keratin K2e)
The molecular genetics of keratin disorders.
Review
Smith, Dundee, United Kingdom. In Am J Clin Dermatol, 2002
These include ichthyosis bullosa of Siemens (K2e), epidermolytic palmoplantar keratoderma (K1, K9), pachyonychia congenita (K6a, K6b, K16, K17), white sponge nevus (K4, K13), Meesmann's corneal dystrophy (K3, K12), cryptogenic cirrhosis (K8, K18) and monilethrix (hHb6, hHb1).In general, these disorders are inherited as autosomal dominant traits and the mutations act in a dominant-negative manner.
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
Review
McGrath et al., London, United Kingdom. In Br J Dermatol, 2001
Previous studies have shown that these genodermatoses are due to mutations in the KRT1 and KRT2E genes, respectively.
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Review
McLean et al., Dundee, United Kingdom. In Exp Dermatol, 1996
Mutations in palmoplantar specific keratin K9 cause epidermolytic palmoplantar keratoderma (EPPK) and mutations in the late differentiation suprabasal keratin K2e cause ichthyosis bullosa of Siemens (IBS).
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
Impact
Roop et al., Houston, United States. In Nat Genet, 1994
Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re-examined for mutations in their K2e genes.
Biochemical evidence for keratinization by mouse epidermal cells in culture.
Impact
Yuspa et al., In Science, 1978
More than 70 percent of the urea-extractable proteins from mouse stratum corneum or from differentiated cells of mouse epidermis grown in culture are two proteins of molecular weight 68,000 (keratin I) and 60,000 (kerae are two proteins of molecular weight 68,000 (keratin 1) and 60,000 (keratin 2), which are present in equimolar amounts on polyacrylamide gels.
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