Keratin, type II cytoskeletal 2 epidermal

Details

Name
Keratin, type II cytoskeletal 2 epidermal
Synonyms
  • CK-2e
  • Cytokeratin-2e
  • Epithelial keratin-2e
  • K2e
  • Keratin-2 epidermis
  • Keratin-2e
  • KRT2A
  • KRT2E
  • Type-II keratin Kb2
Gene Name
KRT2
Organism
Humans
Amino acid sequence
>lcl|BSEQ0049838|Keratin, type II cytoskeletal 2 epidermal
MSCQISCKSRGRGGGGGGFRGFSSGSAVVSGGSRRSTSSFSCLSRHGGGGGGFGGGGFGS
RSLVGLGGTKSISISVAGGGGGFGAAGGFGGRGGGFGGGSSFGGGSGFSGGGFGGGGFGG
GRFGGFGGPGGVGGLGGPGGFGPGGYPGGIHEVSVNQSLLQPLNVKVDPEIQNVKAQERE
QIKTLNNKFASFIDKVRFLEQQNQVLQTKWELLQQMNVGTRPINLEPIFQGYIDSLKRYL
DGLTAERTSQNSELNNMQDLVEDYKKKYEDEINKRTAAENDFVTLKKDVDNAYMIKVELQ
SKVDLLNQEIEFLKVLYDAEISQIHQSVTDTNVILSMDNSRNLDLDSIIAEVKAQYEEIA
QRSKEEAEALYHSKYEELQVTVGRHGDSLKEIKIEISELNRVIQRLQGEIAHVKKQCKNV
QDAIADAEQRGEHALKDARNKLNDLEEALQQAKEDLARLLRDYQELMNVKLALDVEIATY
RKLLEGEECRMSGDLSSNVTVSVTSSTISSNVASKAAFGGSGGRGSSSGGGYSSGSSSYG
SGGRQSGSRGGSGGGGSISGGGYGSGGGSGGRYGSGGGSKGGSISGGGYGSGGGKHSSGG
GSRGGSSSGGGYGSGGGGSSSVKGSSGEAFGSSVTFSFR
Number of residues
639
Molecular Weight
65432.65
Theoretical pI
Not Available
GO Classification
Functions
cytoskeletal protein binding / structural constituent of cytoskeleton / structural constituent of epidermis
Processes
cornification / epidermis development / intermediate filament organization / keratinization / keratinocyte activation / keratinocyte development / keratinocyte migration / keratinocyte proliferation / peptide cross-linking / skin epidermis development
Components
cornified envelope / cytosol / extracellular exosome / extracellular space / intermediate filament / keratin filament / membrane / nucleus
General Function
Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation and keratinization.
Specific Function
Cytoskeletal protein binding
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Not Available
Gene sequence
>lcl|BSEQ0049839|Keratin, type II cytoskeletal 2 epidermal (KRT2)
ATGAGTTGTCAGATCTCTTGCAAATCTCGAGGAAGAGGAGGAGGTGGAGGAGGATTCCGG
GGCTTCAGCAGCGGCTCAGCTGTGGTGTCTGGTGGAAGCCGGAGATCAACTTCCAGCTTC
TCCTGCTTGAGCCGCCATGGTGGTGGTGGCGGGGGCTTCGGTGGAGGCGGCTTTGGCAGT
CGGAGTCTTGTTGGCCTTGGAGGGACCAAGAGCATCTCCATTAGTGTGGCTGGAGGAGGT
GGTGGCTTTGGCGCCGCTGGTGGATTTGGTGGCAGAGGAGGTGGTTTTGGAGGCGGCAGC
AGCTTTGGAGGTGGCAGCGGCTTCAGTGGTGGTGGTTTCGGTGGAGGCGGCTTTGGTGGA
GGCCGCTTTGGAGGTTTTGGGGGCCCTGGTGGTGTTGGAGGTTTAGGGGGTCCTGGTGGC
TTTGGGCCTGGAGGATACCCTGGTGGCATCCACGAAGTCTCTGTCAACCAGAGCCTCCTG
CAGCCTCTCAACGTGAAAGTTGACCCAGAGATCCAGAATGTGAAGGCCCAAGAGCGTGAG
CAGATCAAAACTCTCAACAACAAATTTGCCTCCTTCATTGACAAGGTGCGGTTCTTGGAG
CAGCAGAACCAGGTGTTACAGACCAAATGGGAGCTGCTACAACAAATGAATGTTGGCACC
CGCCCCATCAACCTGGAGCCCATCTTCCAGGGGTATATCGACAGCCTCAAGAGATATCTG
GATGGGCTCACTGCAGAAAGAACATCACAGAATTCAGAGCTGAATAACATGCAGGATCTT
GTGGAGGATTATAAGAAGAAGTATGAGGATGAAATCAATAAGCGCACAGCTGCTGAGAAT
GATTTTGTGACGCTTAAAAAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAG
TCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGAG
ATATCCCAGATACATCAGAGTGTCACTGACACCAACGTCATCCTCTCCATGGACAACAGC
CGCAACCTGGACTTGGATAGCATCATCGCCGAGGTCAAGGCCCAGTATGAGGAGATCGCC
CAGAGGAGCAAGGAAGAAGCGGAGGCCCTGTACCACAGCAAGTATGAGGAGCTCCAGGTG
ACTGTCGGGAGACATGGAGACAGCCTGAAAGAGATCAAGATAGAGATCAGCGAGCTGAAC
CGCGTGATCCAGAGGCTGCAGGGGGAGATCGCACATGTGAAGAAGCAGTGTAAGAATGTG
CAAGATGCCATCGCAGATGCCGAGCAGCGTGGGGAGCATGCCCTCAAGGATGCCAGGAAC
AAGTTGAATGACCTGGAGGAGGCCCTGCAGCAGGCCAAGGAGGACTTGGCGCGGCTGCTG
CGTGACTACCAGGAGCTGATGAACGTGAAGCTGGCCCTAGATGTGGAGATCGCCACCTAC
CGCAAACTGCTGGAGGGCGAGGAGTGCAGGATGTCTGGAGACCTCAGCAGCAATGTGACT
GTGTCTGTGACAAGCAGCACCATTTCATCAAATGTGGCATCCAAGGCTGCCTTTGGAGGT
TCTGGAGGTAGAGGGTCCAGTTCCGGAGGAGGATACAGCTCTGGAAGCAGCAGTTATGGC
TCTGGAGGCCGACAGTCTGGCTCCAGAGGCGGTAGTGGAGGAGGAGGTTCTATCTCTGGA
GGAGGATATGGCTCTGGCGGTGGTTCTGGAGGAAGATACGGATCTGGTGGTGGCTCTAAG
GGAGGGTCCATCTCTGGAGGAGGATATGGCTCTGGAGGTGGAAAACACAGCTCTGGAGGT
GGCTCTAGAGGAGGCTCCAGCTCTGGAGGAGGATATGGCTCTGGAGGTGGGGGTTCTAGC
TCTGTAAAGGGTAGCTCAGGTGAAGCTTTTGGTTCCAGCGTGACCTTCTCTTTTAGATAA
Chromosome Location
12
Locus
12q13.13
External Identifiers
ResourceLink
UniProtKB IDP35908
UniProtKB Entry NameK22E_HUMAN
HGNC IDHGNC:6439
General References
  1. Collin C, Moll R, Kubicka S, Ouhayoun JP, Franke WW: Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation. Exp Cell Res. 1992 Sep;202(1):132-41. [PubMed:1380918]
  2. Smith FJ, Maingi C, Covello SP, Higgins C, Schmidt M, Lane EB, Uitto J, Leigh IM, McLean WH: 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. 1998 Nov;111(5):817-21. [PubMed:9804344]
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  5. Smith LT, Underwood RA, McLean WH: 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. 1999 Apr;140(4):582-91. [PubMed:10233306]
  6. Bloor BK, Tidman N, Leigh IM, Odell E, Dogan B, Wollina U, Ghali L, Waseem A: Expression of keratin K2e in cutaneous and oral lesions: association with keratinocyte activation, proliferation, and keratinization. Am J Pathol. 2003 Mar;162(3):963-75. [PubMed:12598329]
  7. Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. doi: 10.1016/j.molcel.2008.07.007. [PubMed:18691976]
  8. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [PubMed:21269460]
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  11. McLean WH, Morley SM, Lane EB, Eady RA, Griffiths WA, Paige DG, Harper JI, Higgins C, Leigh IM: Ichthyosis bullosa of Siemens--a disease involving keratin 2e. J Invest Dermatol. 1994 Sep;103(3):277-81. [PubMed:7521371]
  12. Kremer H, Zeeuwen P, McLean WH, Mariman EC, Lane EB, van de Kerkhof CM, Ropers HH, Steijlen PM: Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. J Invest Dermatol. 1994 Sep;103(3):286-9. [PubMed:8077693]
  13. Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR: Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet. 1994 Aug;7(4):485-90. [PubMed:7524919]
  14. Jones DO, Watts C, Mills C, Sharpe G, Marks R, Bowden PE: A new keratin 2e mutation in ichthyosis bullosa of Siemens. J Invest Dermatol. 1997 Mar;108(3):354-6. [PubMed:9036938]
  15. Yang JM, Lee S, Bang HD, Kim WS, Lee ES, Steinert PM: A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens. J Invest Dermatol. 1997 Jul;109(1):116-8. [PubMed:9204966]
  16. Yang JM, Lee ES, Kang HJ, Choi GS, Yoneda K, Jung SY, Park KB, Steinert PM, Lee ES: A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens. Acta Derm Venereol. 1998 Nov;78(6):417-9. [PubMed:9833038]
  17. Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, Eady RA: Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature. Br J Dermatol. 1999 Apr;140(4):689-95. [PubMed:10233323]
  18. Arin MJ, Longley MA, Epstein EH Jr, Scott G, Goldsmith LA, Rothnagel JA, Roop DR: A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. J Invest Dermatol. 1999 Mar;112(3):380-2. [PubMed:10084318]
  19. Moraru R, Cserhalmi-Friedman PB, Grossman ME, Schneiderman P, Christiano AM: Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene. Clin Exp Dermatol. 1999 Sep;24(5):412-5. [PubMed:10564334]
  20. Irvine AD, Smith FJ, Shum KW, Williams HC, McLean WH: A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. Clin Exp Dermatol. 2000 Nov;25(8):648-51. [PubMed:11167982]
  21. Suga Y, Arin MJ, Scott G, Goldsmith LA, Magro CM, Baden LA, Baden HP, Roop DR: Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. Exp Dermatol. 2000 Feb;9(1):11-5. [PubMed:10688369]
  22. Takizawa Y, Akiyama M, Nagashima M, Shimizu H: 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. 2000 Jan;114(1):193-5. [PubMed:10620137]
  23. Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA: New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. Br J Dermatol. 2001 Aug;145(2):330-5. [PubMed:11531804]
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Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB09130Copperapproved, investigationalunknownDetails
DB01593Zincapproved, investigationalunknownDetails
DB11157AnthralinapprovedyesantagonistDetails
DB14487Zinc acetateapproved, investigationalunknownDetails
DB14533Zinc chlorideapproved, investigationalunknownDetails