K_ir2.1

KCNJ2
Identifiers
Aliases	KCNJ2, 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 IDs	OMIM: 600681 MGI: 104744 HomoloGene: 20249 GeneCards: KCNJ2
Gene location (Human)
Chr.	Chromosome 17 (human)[1]
End	70,180,044 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	111,076,821 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; • voltage-gated ion channel activity; • identical protein binding; • phosphatidylinositol-4,5-bisphosphate binding; • inward rectifier potassium channel activity; • G-protein activated inward rectifier potassium channel activity;
Cellular component	• integral component of membrane; • rough endoplasmic reticulum; • Golgi apparatus; • membrane; • intercalated disc; • T-tubule; • voltage-gated potassium channel complex; • cell membrane; • dendritic spine; • integral component of plasma membrane; • smooth endoplasmic reticulum; • neuronal cell body; • dendrite; • intrinsic component of membrane;
Biological process	• cardiac muscle cell action potential; • regulation of ion transmembrane transport; • magnesium ion transport; • cardiac muscle cell action potential involved in contraction; • ion transport; • cellular potassium ion homeostasis; • potassium ion transport; • regulation of cardiac muscle cell contraction; • cellular response to mechanical stimulus; • membrane repolarization during action potential; • potassium ion transmembrane transport; • positive regulation of potassium ion transmembrane transport; • regulation of skeletal muscle contraction via regulation of action potential; • regulation of resting membrane potential; • regulation of membrane repolarization; • relaxation of skeletal muscle; • regulation of heart rate by cardiac conduction; • membrane repolarization during cardiac muscle cell action potential; • protein homotetramerization; • relaxation of cardiac muscle; • membrane depolarization during cardiac muscle cell action potential; • potassium ion import across plasma membrane; • cardiac conduction;
	Sources:Amigo / QuickGO
Orthologs
	3759
	16518
	ENSG00000123700
	ENSMUSG00000041695
	P63252
	P35561
	NM_000891
	NM_008425
	NP_000882
	NP_032451
	Wikidata
View/Edit Human	View/Edit Mouse

The K_ir2.1 inward-rectifier potassium ion channel is a lipid-gated ion channel encoded by the KCNJ2 gene.[5][6][7][8]

Clinical significance

A defect in this gene is associated with Andersen-Tawil syndrome.[9]

A mutation in the KCNJ2 gene has also been shown to cause short QT syndrome.[10]

In research

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.[11]

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.[12]

Interactions

Kir2.1 has been shown to interact with:

References

GRCh38: Ensembl release 89: ENSG00000123700 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000041695 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Hansen, SB (May 2015). "Lipid agonism: The PIP2 paradigm of ligand-gated ion channels". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1851 (5): 620–8. doi:10.1016/j.bbalip.2015.01.011. PMC 4540326. PMID 25633344.
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.
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.
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.
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.
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.
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.
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.
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. PMC 6774109. PMID 10627592.
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. PMC 6782450. PMID 10479680.
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.

External links

GeneReviews/NCBI/NIH/UW entry on Andersen-Tawil syndrome
OMIM entries on Anderson-Tawil syndrome
KCNJ2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
Kir2.1+channel at the US National Library of Medicine Medical Subject Headings (MeSH)

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000123700 - Ensembl, May 2017

[refGRCm38Ensembl-2] 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] Hansen, SB (May 2015). "Lipid agonism: The PIP2 paradigm of ligand-gated ion channels". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1851 (5): 620–8. doi:10.1016/j.bbalip.2015.01.011. PMC 4540326. PMID 25633344.

[pmid7696590-6] 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.

[pmid11240146-7] 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.

[pmid16382105-8] 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.

[pmid15176430-9] 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.

[pmid15761194-10] 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.

[pmid20303157-11] 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.

[12] 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.

[pmid10627592-13] 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. PMC 6774109. PMID 10627592.

[pmid10479680-14] 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. PMC 6782450. PMID 10479680.

[pmid16895905-15] 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.

Kir2.1