Kir2.1

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potassium inwardly-rectifying channel, subfamily J, member 2
Identifiers
Symbol KCNJ2
Alt. Symbols Kir2.1, IRK1
Entrez 3759
HUGO 6263
OMIM 600681
RefSeq NM_000891
UniProt P63252
Other data
Locus Chr. 17 q23.1-24.2

The Kir2.1 inward-rectifier potassium ion channel is encoded by the KCNJ gene.[1][2][3]

Clinical significance

A defect in this gene is associated with Andersen-Tawil syndrome.[4]

References

  1. Raab-Graham KF, Radeke CM, Vandenberg CA (1994). "Molecular cloning and expression of a human heart inward rectifier potassium channel". Neuroreport. 5 (18): 2501–5. PMID 7696590. 
  2. Derst C, Karschin C, Wischmeyer E, Hirsch JR, Preisig-Müller R, Rajan S, Engel H, Grzeschik K, Daut J, Karschin A (2001). "Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits". FEBS Lett. 491 (3): 305–11. PMID 11240146. doi:10.1016/S0014-5793(01)02202-5. 
  3. Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol. Rev. 57 (4): 509–26. PMID 16382105. doi:10.1124/pr.57.4.11. 
  4. Donaldson MR, Yoon G, Fu YH, Ptacek LJ (2004). "Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity". Ann. Med. 36 Suppl 1: 92–7. PMID 15176430. 

External links

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