Keratin_2A Knowpia

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)
End	52,652,211 bp
RNA expression pattern
	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
	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
	3849
	n/a
	ENSG00000172867
	n/a
	P35908
	n/a
	NM_000423
	n/a
	NP_000414
	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 edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000172867 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ 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 edit

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 edit

Keratin-2 at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000172867 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1380918-3] 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.

[pmid9804344-4] 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.

[pmid7524919-5] 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.

[3]

[4]

[1]

[2]

[5]

Summary

References edit

Further reading edit

External links edit