Keratin 2A

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KRT2
Identifiers
AliasesKRT2, CK-2e, K2e, KRT2A, KRT2E, KRTE, keratin 2
External IDsOMIM: 600194 HomoloGene: 30974 GeneCards: KRT2
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for KRT2
Genomic location for KRT2
Band12q13.13Start52,644,558 bp[1]
End52,652,211 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000423

n/a

RefSeq (protein)

NP_000414

n/a

Location (UCSC)Chr 12: 52.64 – 52.65 Mbn/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[edit]

  1. ^ a b c 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.

Further reading[edit]

External links[edit]