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{{Infobox_gene}}
{{Infobox_gene}}


'''Keratin 2A''' also known as '''keratin 2E''' or '''keratin 2''' is a [[protein]] that in humans is encoded by the ''KRT2A'' [[gene]].<ref name="pmid1380918">{{cite journal |vauthors=Collin C, Moll R, Kubicka S, Ouhayoun JP, Franke WW | title = Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation | journal = Exp. Cell Res. | volume = 202 | issue = 1 | pages = 132–41 |date=September 1992 | pmid = 1380918 | doi = 10.1016/0014-4827(92)90412-2}}</ref><ref name="pmid9804344">{{cite journal |vauthors=Smith FJ, Maingi C, Covello SP, Higgins C, Schmidt M, Lane EB, Uitto J, Leigh IM, McLean WH | title = Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens | journal = J. Invest. Dermatol. | volume = 111 | issue = 5 | pages = 817–21 |date=November 1998 | pmid = 9804344 | doi = 10.1046/j.1523-1747.1998.00371.x }}</ref>
'''Keratin 2A''' also known as '''keratin 2E''' or '''keratin 2''' is a [[protein]] that in humans is encoded by the ''KRT2A'' [[gene]].<ref name="pmid1380918">{{cite journal |vauthors=Collin C, Moll R, Kubicka S, Ouhayoun JP, Franke WW | title = Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation | journal = Exp. Cell Res. | volume = 202 | issue = 1 | pages = 132–41 |date=September 1992 | pmid = 1380918 | doi = 10.1016/0014-4827(92)90412-2}}</ref><ref name="pmid9804344">{{cite journal |vauthors=Smith FJ, Maingi C, Covello SP, Higgins C, Schmidt M, Lane EB, Uitto J, Leigh IM, McLean WH | title = Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens | journal = J. Invest. Dermatol. | volume = 111 | issue = 5 | pages = 817–21 |date=November 1998 | pmid = 9804344 | doi = 10.1046/j.1523-1747.1998.00371.x | doi-access = free }}</ref>


Keratin 2A is a [[type II cytokeratin]]. It is found largely in the upper spinous layer of epidermal [[keratinocyte]]s and mutations in the gene encoding this protein have been associated with [[ichthyosis bullosa of Siemens]].<ref name="pmid7524919">{{cite journal |vauthors=Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR | title = Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens | journal = Nat. Genet. | volume = 7 | issue = 4 | pages = 485–90 |date=August 1994 | pmid = 7524919 | doi = 10.1038/ng0894-485 | s2cid = 9123045 }}</ref>
Keratin 2A is a [[type II cytokeratin]]. It is found largely in the upper spinous layer of epidermal [[keratinocyte]]s and mutations in the gene encoding this protein have been associated with [[ichthyosis bullosa of Siemens]].<ref name="pmid7524919">{{cite journal |vauthors=Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR | title = Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens | journal = Nat. Genet. | volume = 7 | issue = 4 | pages = 485–90 |date=August 1994 | pmid = 7524919 | doi = 10.1038/ng0894-485 | s2cid = 9123045 }}</ref>
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{{refbegin | 2}}
{{refbegin | 2}}
*{{cite journal |vauthors=Whittock NV, Ashton GH, Griffiths WA, etal |title=New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. |journal=Br. J. Dermatol. |volume=145 |issue= 2 |pages= 330–5 |year= 2001 |pmid= 11531804 |doi=10.1046/j.1365-2133.2001.04327.x |s2cid=36140204 }}
*{{cite journal |vauthors=Whittock NV, Ashton GH, Griffiths WA, etal |title=New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. |journal=Br. J. Dermatol. |volume=145 |issue= 2 |pages= 330–5 |year= 2001 |pmid= 11531804 |doi=10.1046/j.1365-2133.2001.04327.x |s2cid=36140204 }}
*{{cite journal |vauthors=Lan L, Hayes CS, Laury-Kleintop L, Gilmour SK |title=Suprabasal induction of ornithine decarboxylase in adult mouse skin is sufficient to activate keratinocytes. |journal=J. Invest. Dermatol. |volume=124 |issue= 3 |pages= 602–14 |year= 2005 |pmid= 15737202 |doi= 10.1111/j.0022-202X.2005.23620.x }}
*{{cite journal |vauthors=Lan L, Hayes CS, Laury-Kleintop L, Gilmour SK |title=Suprabasal induction of ornithine decarboxylase in adult mouse skin is sufficient to activate keratinocytes. |journal=J. Invest. Dermatol. |volume=124 |issue= 3 |pages= 602–14 |year= 2005 |pmid= 15737202 |doi= 10.1111/j.0022-202X.2005.23620.x |doi-access= free }}
*{{cite journal |vauthors=Takizawa Y, Akiyama M, Nagashima M, Shimizu H |title=A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. |journal=J. Invest. Dermatol. |volume=114 |issue= 1 |pages= 193–5 |year= 2000 |pmid= 10620137 |doi= 10.1046/j.1523-1747.2000.00817.x }}
*{{cite journal |vauthors=Takizawa Y, Akiyama M, Nagashima M, Shimizu H |title=A novel asparagine→aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. |journal=J. Invest. Dermatol. |volume=114 |issue= 1 |pages= 193–5 |year= 2000 |pmid= 10620137 |doi= 10.1046/j.1523-1747.2000.00817.x |doi-access= free }}
*{{cite journal |vauthors=Bloor BK, Tidman N, Leigh IM, etal |title=Expression of Keratin K2e in Cutaneous and Oral Lesions : Association with Keratinocyte Activation, Proliferation, and Keratinization |journal=Am. J. Pathol. |volume=162 |issue= 3 |pages= 963–75 |year= 2003 |pmid= 12598329 |pmc=1868097 |doi=10.1016/S0002-9440(10)63891-6 }}
*{{cite journal |vauthors=Bloor BK, Tidman N, Leigh IM, etal |title=Expression of Keratin K2e in Cutaneous and Oral Lesions : Association with Keratinocyte Activation, Proliferation, and Keratinization |journal=Am. J. Pathol. |volume=162 |issue= 3 |pages= 963–75 |year= 2003 |pmid= 12598329 |pmc=1868097 |doi=10.1016/S0002-9440(10)63891-6 }}
*{{cite journal |vauthors=Basarab T, Smith FJ, Jolliffe VM, etal |title=Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature |journal=Br. J. Dermatol. |volume=140 |issue= 4 |pages= 689–95 |year= 1999 |pmid= 10233323 |doi=10.1046/j.1365-2133.1999.02772.x |s2cid=40212035 }}
*{{cite journal |vauthors=Basarab T, Smith FJ, Jolliffe VM, etal |title=Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature |journal=Br. J. Dermatol. |volume=140 |issue= 4 |pages= 689–95 |year= 1999 |pmid= 10233323 |doi=10.1046/j.1365-2133.1999.02772.x |s2cid=40212035 }}
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*{{cite journal |vauthors=Suga Y, Arin MJ, Scott G, etal |title=Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens |journal=Exp. Dermatol. |volume=9 |issue= 1 |pages= 11–5 |year= 2000 |pmid= 10688369 |doi=10.1034/j.1600-0625.2000.009001011.x |s2cid=11775232 }}
*{{cite journal |vauthors=Suga Y, Arin MJ, Scott G, etal |title=Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens |journal=Exp. Dermatol. |volume=9 |issue= 1 |pages= 11–5 |year= 2000 |pmid= 10688369 |doi=10.1034/j.1600-0625.2000.009001011.x |s2cid=11775232 }}
*{{cite journal |vauthors=Nishizawa A, Toyomaki Y, Nakano A, etal |title=A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens |journal=Br. J. Dermatol. |volume=156 |issue= 5 |pages= 1042–4 |year= 2007 |pmid= 17408392 |doi= 10.1111/j.1365-2133.2007.07832.x |s2cid=46240156 }}
*{{cite journal |vauthors=Nishizawa A, Toyomaki Y, Nakano A, etal |title=A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens |journal=Br. J. Dermatol. |volume=156 |issue= 5 |pages= 1042–4 |year= 2007 |pmid= 17408392 |doi= 10.1111/j.1365-2133.2007.07832.x |s2cid=46240156 }}
*{{cite journal |vauthors=Arin MJ, Longley MA, Epstein EH, etal |title=A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens |journal=J. Invest. Dermatol. |volume=112 |issue= 3 |pages= 380–2 |year= 1999 |pmid= 10084318 |doi= 10.1046/j.1523-1747.1999.00529.x }}
*{{cite journal |vauthors=Arin MJ, Longley MA, Epstein EH, etal |title=A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens |journal=J. Invest. Dermatol. |volume=112 |issue= 3 |pages= 380–2 |year= 1999 |pmid= 10084318 |doi= 10.1046/j.1523-1747.1999.00529.x |doi-access= free }}
*{{cite journal |vauthors=Akiyama M, Tsuji-Abe Y, Yanagihara M, etal |title=Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing |journal=Br. J. Dermatol. |volume=152 |issue= 6 |pages= 1353–6 |year= 2005 |pmid= 15949009 |doi= 10.1111/j.1365-2133.2005.06598.x |s2cid=19701339 }}
*{{cite journal |vauthors=Akiyama M, Tsuji-Abe Y, Yanagihara M, etal |title=Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing |journal=Br. J. Dermatol. |volume=152 |issue= 6 |pages= 1353–6 |year= 2005 |pmid= 15949009 |doi= 10.1111/j.1365-2133.2005.06598.x |s2cid=19701339 }}
*{{cite journal |vauthors=Schweizer J, Bowden PE, Coulombe PA, etal |title=New consensus nomenclature for mammalian keratins |journal=J. Cell Biol. |volume=174 |issue= 2 |pages= 169–74 |year= 2006 |pmid= 16831889 |pmc=2064177 |doi= 10.1083/jcb.200603161 }}
*{{cite journal |vauthors=Schweizer J, Bowden PE, Coulombe PA, etal |title=New consensus nomenclature for mammalian keratins |journal=J. Cell Biol. |volume=174 |issue= 2 |pages= 169–74 |year= 2006 |pmid= 16831889 |pmc=2064177 |doi= 10.1083/jcb.200603161 }}
*{{cite journal |vauthors=Barbe L, Lundberg E, Oksvold P, etal |title=Toward a confocal subcellular atlas of the human proteome |journal=Mol. Cell. Proteomics |volume=7 |issue= 3 |pages= 499–508 |year= 2008 |pmid= 18029348 |doi= 10.1074/mcp.M700325-MCP200 |doi-access= free }}
*{{cite journal |vauthors=Barbe L, Lundberg E, Oksvold P, etal |title=Toward a confocal subcellular atlas of the human proteome |journal=Mol. Cell. Proteomics |volume=7 |issue= 3 |pages= 499–508 |year= 2008 |pmid= 18029348 |doi= 10.1074/mcp.M700325-MCP200 |doi-access= free }}
*{{cite journal |vauthors=Yang JM, Lee ES, Kang HJ, etal |title=A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens |journal=Acta Derm. Venereol. |volume=78 |issue= 6 |pages= 417–9 |year= 1998 |pmid= 9833038 |doi=10.1080/000155598442683 |doi-access=free }}
*{{cite journal |vauthors=Yang JM, Lee ES, Kang HJ, etal |title=A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens |journal=Acta Derm. Venereol. |volume=78 |issue= 6 |pages= 417–9 |year= 1998 |pmid= 9833038 |doi=10.1080/000155598442683 |doi-access=free }}
*{{cite journal |vauthors=Grimsby S, Jaensson H, Dubrovska A, etal |title=Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity |journal=FEBS Lett. |volume=577 |issue= 1–2 |pages= 93–100 |year= 2004 |pmid= 15527767 |doi= 10.1016/j.febslet.2004.09.069 |s2cid=82568 }}
*{{cite journal |vauthors=Grimsby S, Jaensson H, Dubrovska A, etal |title=Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity |journal=FEBS Lett. |volume=577 |issue= 1–2 |pages= 93–100 |year= 2004 |pmid= 15527767 |doi= 10.1016/j.febslet.2004.09.069 |s2cid=82568 |doi-access=free }}
*{{cite journal |vauthors=Moraru R, Cserhalmi-Friedman PB, Grossman ME, etal |title=Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene |journal=Clin. Exp. Dermatol. |volume=24 |issue= 5 |pages= 412–5 |year= 1999 |pmid= 10564334 |doi=10.1046/j.1365-2230.1999.00514.x |s2cid=25442636 }}
*{{cite journal |vauthors=Moraru R, Cserhalmi-Friedman PB, Grossman ME, etal |title=Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene |journal=Clin. Exp. Dermatol. |volume=24 |issue= 5 |pages= 412–5 |year= 1999 |pmid= 10564334 |doi=10.1046/j.1365-2230.1999.00514.x |s2cid=25442636 }}
*{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |pmc=528928 |doi= 10.1101/gr.2596504 }}
*{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |pmc=528928 |doi= 10.1101/gr.2596504 }}
*{{cite journal |vauthors=Irvine AD, Smith FJ, Shum KW, etal |title=A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens |journal=Clin. Exp. Dermatol. |volume=25 |issue= 8 |pages= 648–51 |year= 2000 |pmid= 11167982 |doi=10.1046/j.1365-2230.2000.00728.x |s2cid=8740249 }}
*{{cite journal |vauthors=Irvine AD, Smith FJ, Shum KW, etal |title=A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens |journal=Clin. Exp. Dermatol. |volume=25 |issue= 8 |pages= 648–51 |year= 2000 |pmid= 11167982 |doi=10.1046/j.1365-2230.2000.00728.x |s2cid=8740249 }}
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |pmc=139241 |doi= 10.1073/pnas.242603899 }}
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |pmc=139241 |doi= 10.1073/pnas.242603899 |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal |vauthors=Frum R, Busby SA, Ramamoorthy M, etal |title=HDM2-binding partners: interaction with translation elongation factor EF1alpha |journal=J. Proteome Res. |volume=6 |issue= 4 |pages= 1410–7 |year= 2007 |pmid= 17373842 |pmc=4626875 |doi= 10.1021/pr060584p }}
*{{cite journal |vauthors=Frum R, Busby SA, Ramamoorthy M, etal |title=HDM2-binding partners: interaction with translation elongation factor EF1alpha |journal=J. Proteome Res. |volume=6 |issue= 4 |pages= 1410–7 |year= 2007 |pmid= 17373842 |pmc=4626875 |doi= 10.1021/pr060584p }}
{{refend}}
{{refend}}

Latest revision as of 06:13, 25 April 2024

KRT2
Identifiers
AliasesKRT2, CK-2e, K2e, KRT2A, KRT2E, KRTE, keratin 2
External IDsOMIM: 600194; MGI: 96699; HomoloGene: 30974; GeneCards: KRT2; OMA:KRT2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000423

NM_010668

RefSeq (protein)

NP_000414

NP_034798

Location (UCSC)Chr 12: 52.64 – 52.65 MbChr 15: 101.72 – 101.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Keratin 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the KRT2A gene.[5][6]

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.[7]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172867Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000064201Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ 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

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