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Keratin 2A

From Wikipedia, the free encyclopedia
KRT2
Identifiers
AliasesKRT2, CK-2e, K2e, KRT2A, KRT2E, KRTE, keratin 2
External IDsOMIM:600194;MGI:96699;HomoloGene:30974;GeneCards:KRT2;OMA:KRT2 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for KRT2
Genomic location for KRT2
Band12q13.13Start52,644,558bp[1]
End52,652,211bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for KRT2
Genomic location for KRT2
Band15 F2|15 57.03 cMStart101,719,124bp[2]
End101,726,604bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • skin of arm

  • skin of thigh

  • skin of hip

  • skin of abdomen

  • nipple

  • human penis

  • gingival epithelium

  • vulva

  • palpebral conjunctiva

  • gastrocnemius muscle
Top expressed in
  • skin of external ear

  • lip

  • dentate gyrus of hippocampal formation granule cell

  • ankle

  • ankle joint

  • Ileal epithelium

  • entorhinal cortex

  • filiform papilla

  • stellate ganglion

  • ganglion of vagus nerve
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3849

16681

Ensembl

ENSG00000172867

ENSMUSG00000064201

UniProt

P35908

Q3TTY5

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 askeratin 2E orkeratin 2 is aprotein that in humans is encoded by theKRT2Agene.[5][6]

Keratin 2A is atype II cytokeratin. It is found largely in the upper spinous layer of epidermalkeratinocytes and mutations in the gene encoding this protein have been associated withichthyosis bullosa of Siemens.[7]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000172867Ensembl, May 2017
  2. ^abcGRCm38: 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

[edit]

External links

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Human
Microfilaments
andABPs
Myofilament
Actins
Myosins
Other
Other
Intermediate
filaments
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
Microtubules
andMAPs
Tubulins
MAPs
Kinesins
Dyneins
Microtubule organising proteins
Microtubule severing proteins
Other
Catenins
Membrane
Other
Nonhuman


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