Kir2.1

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KCNJ2
Protein KCNJ2 PDB 1u4f.png
Identifiers
AliasesKCNJ2, ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3, potassium voltage-gated channel subfamily J member 2, potassium inwardly rectifying channel subfamily J member 2
External IDsOMIM: 600681 MGI: 104744 HomoloGene: 20249 GeneCards: KCNJ2
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for KCNJ2
Genomic location for KCNJ2
Band17q24.3Start70,168,673 bp[1]
End70,180,048 bp[1]
RNA expression pattern
PBB GE KCNJ2 206765 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000891

NM_008425

RefSeq (protein)

NP_000882

NP_032451

Location (UCSC)Chr 17: 70.17 – 70.18 MbChr 11: 111.07 – 111.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The Kir2.1 inward-rectifier potassium ion channel is encoded by the KCNJ2 gene.[5][6][7]

Clinical significance[edit]

A defect in this gene is associated with Andersen-Tawil syndrome.[8]

A mutation in the KCNJ2 gene has also been shown to cause short QT syndrome.[9]

In research[edit]

In neurogenetics, Kir2.1 is used in Drosophila research to inhibit neurons, as overexpression of this channel will hyperpolarize cells.

In optogenetics, a trafficking sequence from Kir2.1 has been added to halorhodopsin to improve its membrane localization. The resulting protein eNpHR3.0 is used in optogenetic research to inhibit neurons with light.[10]

Expression of Kir2.1 gene in human HEK293 cells induce a transient outward current, creating a steady membrane potential close to the reversal potential of potassium.[11]

Interactions[edit]

Kir2.1 has been shown to interact with:

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000123700 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041695 - Ensembl, 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. ^ 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. doi:10.1097/00001756-199412000-00024. PMID 7696590.
  6. ^ 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. doi:10.1016/S0014-5793(01)02202-5. PMID 11240146.
  7. ^ 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. doi:10.1124/pr.57.4.11. PMID 16382105.
  8. ^ 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. doi:10.1080/17431380410032490. PMID 15176430.
  9. ^ Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, Anumonwo J, di Barletta MR, Gudapakkam S, Bosi G, Stramba-Badiale M, Jalife J (April 2005). "A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene". Circ. Res. 96 (7): 800–7. doi:10.1161/01.RES.0000162101.76263.8c. PMID 15761194.
  10. ^ Gradinaru V, Zhang F, Ramakrishnan C, Mattis J, Prakash R, Diester I, Goshen I, Thompson KR, Deisseroth K (April 2010). "Molecular and cellular approaches for diversifying and extending optogenetics". Cell. 141 (1): 154–65. doi:10.1016/j.cell.2010.02.037. PMC 4160532. PMID 20303157.
  11. ^ Zhang, De-Yong; Lau, Chu-Pak; Li, Gui-Rong (2009-04-01). "Human Kir2.1 channel carries a transient outward potassium current with inward rectification". Pflügers Archiv: European Journal of Physiology. 457 (6): 1275–1285. doi:10.1007/s00424-008-0608-0. ISSN 1432-2013. PMID 19002489.
  12. ^ Nehring RB, Wischmeyer E, Döring F, Veh RW, Sheng M, Karschin A (2000). "Neuronal inwardly rectifying K(+) channels differentially couple to PDZ proteins of the PSD-95/SAP90 family". J. Neurosci. 20 (1): 156–62. doi:10.1523/JNEUROSCI.20-01-00156.2000. PMID 10627592.
  13. ^ Kurschner C, Yuzaki M (1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". J. Neurosci. 19 (18): 7770–80. doi:10.1523/JNEUROSCI.19-18-07770.1999. PMID 10479680.
  14. ^ Grishin A, Li H, Levitan ES, Zaks-Makhina E (2006). "Identification of gamma-aminobutyric acid receptor-interacting factor 1 (TRAK2) as a trafficking factor for the K+ channel Kir2.1". J. Biol. Chem. 281 (40): 30104–11. doi:10.1074/jbc.M602439200. PMID 16895905.

Further reading[edit]

External links[edit]