Keratin 2A

KRT2
Identifiers
Aliases	KRT2 , CK-2e, K2e, KRT2A, KRT2E, KRTE, keratin 2
External IDs	OMIM: 600194 HomoloGene: 30974 GeneCards: KRT2
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q13.13 Start 52,644,558 bp [1] End 52,652,211 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of abdomen nipple human penis vulva palpebral conjunctiva gastrocnemius muscle tibialis anterior muscle left ventricle popliteal artery right lung n/a More reference expression data BioGPS n/a
Gene ontology Molecular function structural constituent of cytoskeleton protein binding structural molecule activity cytoskeletal protein binding structural constituent of skin epidermis Cellular component keratin filament extracellular exosome membrane nucleus intermediate filament extracellular space cytosol cornified envelope Biological process keratinocyte migration keratinocyte activation keratinocyte proliferation intermediate filament organization epidermis development keratinocyte development keratinization cornification peptide cross-linking positive regulation of epidermis development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3849 n/a Ensembl ENSG00000172867 n/a UniProt P35908 n/a RefSeq (mRNA) NM_000423 n/a RefSeq (protein) NP_000414 n/a Location (UCSC) Chr 12: 52.64 – 52.65 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Keratin 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the KRT2A gene. ^{[3] [4]}

Keratin 2A is a type II cytokeratin. It is found largely in the upper spinous layer of epidermal keratinocytes and mutations in the gene encoding this protein have been associated with ichthyosis bullosa of Siemens. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000172867 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Collin C, Moll R, Kubicka S, Ouhayoun JP, Franke WW (September 1992). "Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation". Exp. Cell Res. 202 (1): 132–41. doi:10.1016/0014-4827(92)90412-2. PMID   1380918.
4. Smith FJ, Maingi C, Covello SP, Higgins C, Schmidt M, Lane EB, Uitto J, Leigh IM, McLean WH (November 1998). "Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens". J. Invest. Dermatol. 111 (5): 817–21. doi: 10.1046/j.1523-1747.1998.00371.x . PMID   9804344.
5. Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR (August 1994). "Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens". Nat. Genet. 7 (4): 485–90. doi:10.1038/ng0894-485. PMID   7524919. S2CID   9123045.

Further reading

• Whittock NV, Ashton GH, Griffiths WA, et al. (2001). "New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens". Br. J. Dermatol. 145 (2): 330–5. doi:10.1046/j.1365-2133.2001.04327.x. PMID   11531804. S2CID   36140204.
• Lan L, Hayes CS, Laury-Kleintop L, Gilmour SK (2005). "Suprabasal induction of ornithine decarboxylase in adult mouse skin is sufficient to activate keratinocytes". J. Invest. Dermatol. 124 (3): 602–14. doi: 10.1111/j.0022-202X.2005.23620.x . PMID   15737202.
• Takizawa Y, Akiyama M, Nagashima M, Shimizu H (2000). "A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens". J. Invest. Dermatol. 114 (1): 193–5. doi: 10.1046/j.1523-1747.2000.00817.x . PMID   10620137.
• Bloor BK, Tidman N, Leigh IM, et al. (2003). "Expression of Keratin K2e in Cutaneous and Oral Lesions : Association with Keratinocyte Activation, Proliferation, and Keratinization". Am. J. Pathol. 162 (3): 963–75. doi:10.1016/S0002-9440(10)63891-6. PMC   1868097 . PMID   12598329.
• Basarab T, Smith FJ, Jolliffe VM, et al. (1999). "Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature". Br. J. Dermatol. 140 (4): 689–95. doi:10.1046/j.1365-2133.1999.02772.x. PMID   10233323. S2CID   40212035.
• Smith LT, Underwood RA, McLean WH (1999). "Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development". Br. J. Dermatol. 140 (4): 582–91. doi:10.1046/j.1365-2133.1999.02755.x. PMID   10233306. S2CID   22985265.
• Suga Y, Arin MJ, Scott G, et al. (2000). "Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens". Exp. Dermatol. 9 (1): 11–5. doi:10.1034/j.1600-0625.2000.009001011.x. PMID   10688369. S2CID   11775232.
• Nishizawa A, Toyomaki Y, Nakano A, et al. (2007). "A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens". Br. J. Dermatol. 156 (5): 1042–4. doi:10.1111/j.1365-2133.2007.07832.x. PMID   17408392. S2CID   46240156.
• Arin MJ, Longley MA, Epstein EH, et al. (1999). "A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens". J. Invest. Dermatol. 112 (3): 380–2. doi: 10.1046/j.1523-1747.1999.00529.x . PMID   10084318.
• Akiyama M, Tsuji-Abe Y, Yanagihara M, et al. (2005). "Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing". Br. J. Dermatol. 152 (6): 1353–6. doi:10.1111/j.1365-2133.2005.06598.x. PMID   15949009. S2CID   19701339.
• Schweizer J, Bowden PE, Coulombe PA, et al. (2006). "New consensus nomenclature for mammalian keratins". J. Cell Biol. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC   2064177 . PMID   16831889.
• Barbe L, Lundberg E, Oksvold P, et al. (2008). "Toward a confocal subcellular atlas of the human proteome". Mol. Cell. Proteomics. 7 (3): 499–508. doi: 10.1074/mcp.M700325-MCP200 . PMID   18029348.
• Yang JM, Lee ES, Kang HJ, et al. (1998). "A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens". Acta Derm. Venereol. 78 (6): 417–9. doi: 10.1080/000155598442683 . PMID   9833038.
• Grimsby S, Jaensson H, Dubrovska A, et al. (2004). "Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity". FEBS Lett. 577 (1–2): 93–100. doi: 10.1016/j.febslet.2004.09.069 . PMID   15527767. S2CID   82568.
• Moraru R, Cserhalmi-Friedman PB, Grossman ME, et al. (1999). "Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene". Clin. Exp. Dermatol. 24 (5): 412–5. doi:10.1046/j.1365-2230.1999.00514.x. PMID   10564334. S2CID   25442636.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Irvine AD, Smith FJ, Shum KW, et al. (2000). "A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens". Clin. Exp. Dermatol. 25 (8): 648–51. doi:10.1046/j.1365-2230.2000.00728.x. PMID   11167982. S2CID   8740249.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Frum R, Busby SA, Ramamoorthy M, et al. (2007). "HDM2-binding partners: interaction with translation elongation factor EF1alpha". J. Proteome Res. 6 (4): 1410–7. doi:10.1021/pr060584p. PMC   4626875 . PMID   17373842.

External links

• Keratin-2 at the US National Library of Medicine Medical Subject Headings (MeSH)