KCNJ2

KCNJ2
Identifikatori
Aliasi	KCNJ2
Vanjski ID-jevi	OMIM: 600681 MGI: 104744 HomoloGene: 20249 GeneCards: KCNJ2
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	70,180,044 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	110,967,647 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; • voltage-gated ion channel activity; • vezivanje identičnih proteina; • phosphatidylinositol-4,5-bisphosphate binding; • inward rectifier potassium channel activity; • G-protein activated inward rectifier potassium channel activity;
Ćelijska komponenta	• integral component of membrane; • rough endoplasmic reticulum; • Golđijev aparat; • membrana; • Interkalirani disk; • T-tubule; • voltage-gated potassium channel complex; • ćelijska membrana; • dendritična kičma; • integral component of plasma membrane; • smooth endoplasmic reticulum; • soma; • dendrit; • intrinsic component of membrane;
Biološki proces	• cardiac muscle cell action potential; • regulation of ion transmembrane transport; • magnesium ion transport; • cardiac muscle cell action potential involved in contraction; • ion transport; • GO:0097301 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;
	Izvori:Amigo / QuickGO
Ortolozi
	3759
	16518
	ENSG00000123700
	ENSMUSG00000041695
	P63252
	P35561
	NM_000891
	NM_008425
	NP_000882
	NP_032451
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

K_ir2.1 usmjerivač kalij-ionskog kanala prema unutra je lipidno usidreni kanal kodiran genom KCNJ2.^[5]^[6]^[7]^[8]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 427 aminokiselina, a molekulska težina 48.288 Da.^[9]

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10	20	30	40	50
MGSVRTNRYS	IVSSEEDGMK	LATMAVANGF	GNGKSKVHTR	QQCRSRFVKK
DGHCNVQFIN	VGEKGQRYLA	DIFTTCVDIR	WRWMLVIFCL	AFVLSWLFFG
CVFWLIALLH	GDLDASKEGK	ACVSEVNSFT	AAFLFSIETQ	TTIGYGFRCV
TDECPIAVFM	VVFQSIVGCI	IDAFIIGAVM	AKMAKPKKRN	ETLVFSHNAV
IAMRDGKLCL	MWRVGNLRKS	HLVEAHVRAQ	LLKSRITSEG	EYIPLDQIDI
NVGFDSGIDR	IFLVSPITIV	HEIDEDSPLY	DLSKQDIDNA	DFEIVVILEG
MVEATAMTTQ	CRSSYLANEI	LWGHRYEPVL	FEEKHYYKVD	YSRFHKTYEV
PNTPLCSARD	LAEKKYILSN	ANSFCYENEV	ALTSKEEDDS	ENGVPESTST
DTPPDIDLHN	QASVPLEPRP	LRRESEI

Klinički značaj

Defekt ovog gena povezan je sa Andersen–Tawilovim sindromom.^[10]

Pokazalo se da i mutacija gena KCNJ2 uzrokuje sindrom kratkog QT.^[11]

Istraživanje

U neurogenetici, Kir2.1 se koristi u istraživanju voćnih mušica roda Drosophila, za inhibiranje neurona, jer prekomjerna ekspresija ovog kanala hiperpolarizira ćelije.

U optogenetici, sekvenca prometa Kir2.1 dodata je u halorodopsin radi poboljšanja lokalizacije njegove membrane. Dobijeni protein eNpHR3.0 koristi se u optogenetičkim istraživanjima za inhibiciju neurona svetlošću.^[12]

Ekspresija gena Kir2.1 u ljudskim ćelijama HEK293 inducira privremenu vanjsku struju, stvarajući postojani membranski potencijal, blizu potencijala preokreta kalija.^[13]

Interakcije

Pokazano je da Kir2.1 međureagira sa:

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000123700 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000041695 - Ensembl, maj 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 (maj 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. S2CID 14452157.
^ 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. S2CID 11588492.
^ "UniProt, P63252". Pristupljeno 25. 6. 2021.
^ 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. S2CID 7362563.
^ 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 (1. 4. 2009). "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. S2CID 3120804.
^ 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.

Dopunska literatura

Kubo Y, Adelman JP, Clapham DE, et al. (2006). "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. S2CID 11588492.
Wood LS, Tsai TD, Lee KS, Vogeli G (1995). "Cloning and functional expression of a human gene, hIRK1, encoding the heart inward rectifier K+-channel". Gene. 163 (2): 313–7. doi:10.1016/0378-1119(95)00244-Z. PMID 7590287.
Kubo Y, Baldwin TJ, Jan YN, Jan LY (1993). "Primary structure and functional expression of a mouse inward rectifier potassium channel". Nature. 362 (6416): 127–33. Bibcode:1993Natur.362..127K. doi:10.1038/362127a0. PMID 7680768. S2CID 4243856.
Raab-Graham KF, Radeke CM, Vandenberg CA (1995). "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.
Ashen MD, O'Rourke B, Kluge KA, et al. (1995). "Inward rectifier K+ channel from human heart and brain: cloning and stable expression in a human cell line". Am. J. Physiol. 268 (1 Pt 2): H506–11. doi:10.1152/ajpheart.1995.268.1.H506. PMID 7840300.
Tang W, Qin CL, Yang XC (1996). "Cloning, localization, and functional expression of a human brain inward rectifier potassium channel (hIRK1)". Recept. Channels. 3 (3): 175–83. PMID 8821791.
Tare M, Prestwich SA, Gordienko DV, et al. (1998). "Inwardly rectifying whole cell potassium current in human blood eosinophils". J. Physiol. 506 (2): 303–18. doi:10.1111/j.1469-7793.1998.303bw.x. PMC 2230727. PMID 9490857.
Rae JL, Shepard AR (1998). "Inwardly rectifying potassium channels in lens epithelium are from the IRK1 (Kir 2.1) family". Exp. Eye Res. 66 (3): 347–59. doi:10.1006/exer.1997.0432. PMID 9533862.
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.
Tucker SJ, Ashcroft FM (1999). "Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2". J. Biol. Chem. 274 (47): 33393–7. doi:10.1074/jbc.274.47.33393. PMID 10559219.
Nehring RB, Wischmeyer E, Döring F, et al. (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.
Leonoudakis D, Mailliard W, Wingerd K, et al. (2001). "Inward rectifier potassium channel Kir2.2 is associated with synapse-associated protein SAP97". J. Cell Sci. 114 (Pt 5): 987–98. PMID 11181181.
Derst C, Karschin C, Wischmeyer E, et al. (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. S2CID 14452157.
Stockklausner C, Ludwig J, Ruppersberg JP, Klöcker N (2001). "A sequence motif responsible for ER export and surface expression of Kir2.0 inward rectifier K(+) channels". FEBS Lett. 493 (2–3): 129–33. doi:10.1016/S0014-5793(01)02286-4. PMID 11287009. S2CID 19230587.
Dart C, Leyland ML (2001). "Targeting of an A kinase-anchoring protein, AKAP79, to an inwardly rectifying potassium channel, Kir2.1". J. Biol. Chem. 276 (23): 20499–505. doi:10.1074/jbc.M101425200. PMID 11287423.
Plaster NM, Tawil R, Tristani-Firouzi M, et al. (2001). "Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome". Cell. 105 (4): 511–9. doi:10.1016/S0092-8674(01)00342-7. PMID 11371347. S2CID 17015195.
Jeong JS, Lee HJ, Jung JS, et al. (2001). "Characterization of inwardly rectifying K(+) conductance across the basolateral membrane of rat tracheal epithelia". Biochem. Biophys. Res. Commun. 288 (4): 914–20. doi:10.1006/bbrc.2001.5831. PMID 11688996.
Giovannardi S, Forlani G, Balestrini M, et al. (2002). "Modulation of the inward rectifier potassium channel IRK1 by the Ras signaling pathway". J. Biol. Chem. 277 (14): 12158–63. doi:10.1074/jbc.M110466200. PMID 11809752.
Preisig-Müller R, Schlichthörl G, Goerge T, et al. (2002). "Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome". Proc. Natl. Acad. Sci. U.S.A. 99 (11): 7774–9. Bibcode:2002PNAS...99.7774P. doi:10.1073/pnas.102609499. PMC 124349. PMID 12032359.
Ai T, Fujiwara Y, Tsuji K, et al. (2002). "Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia". Circulation. 105 (22): 2592–4. doi:10.1161/01.CIR.0000019906.35135.A3. PMID 12045162.

Vanjski linkovi

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

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

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000041695 - Ensembl, maj 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 (maj 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. S2CID 14452157.

[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. S2CID 11588492.

[UniProt-9] "UniProt, P63252". Pristupljeno 25. 6. 2021.

[pmid15176430-10] 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. S2CID 7362563.

[pmid15761194-11] 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.

[pmid20303157-12] 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.

[13] Zhang, De-Yong; Lau, Chu-Pak; Li, Gui-Rong (1. 4. 2009). "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. S2CID 3120804.

[pmid10627592-14] 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.

[pmid10479680-15] 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.

[pmid16895905-16] 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.

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