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词条 KCNJ6
释义

  1. Function

  2. Interactions

  3. See also

  4. References

  5. Further reading

  6. External links

{{Infobox_gene}}G protein-activated inward rectifier potassium channel 2 is a protein that in humans is encoded by the KCNJ6 gene.[1][2][3] Mutation in KCNJ6 gene has been proposed to be the cause of Keppen-Lubinsky Syndrome (KPLBS). [4]

Function

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and may be involved in the regulation of insulin secretion by glucose. It associates with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex.[3]

Interactions

KCNJ6 has been shown to interact with KCNJ9[5][6] and DLG1.[7]

See also

  • G protein-coupled inwardly-rectifying potassium channel
  • Inward-rectifier potassium ion channel

References

1. ^{{cite journal | vauthors = Sakura H, Bond C, Warren-Perry M, Horsley S, Kearney L, Tucker S, Adelman J, Turner R, Ashcroft FM | title = Characterization and variation of a human inwardly-rectifying-K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit | journal = FEBS Lett | volume = 367 | issue = 2 | pages = 193–7 | date = August 1995 | pmid = 7796919 | pmc = | doi = 10.1016/0014-5793(95)00498-X }}
2. ^{{cite journal | vauthors = Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA | title = International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels | journal = Pharmacol Rev | volume = 57 | issue = 4 | pages = 509–26 | date = December 2005 | pmid = 16382105 | pmc = | doi = 10.1124/pr.57.4.11 }}
3. ^{{cite web | title = Entrez Gene: KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3763| accessdate = }}
4. ^{{Cite journal|last=Masotti|first=Andrea|last2=Uva|first2=Paolo|last3=Davis-Keppen|first3=Laura|last4=Basel-Vanagaite|first4=Lina|last5=Cohen|first5=Lior|last6=Pisaneschi|first6=Elisa|last7=Celluzzi|first7=Antonella|last8=Bencivenga|first8=Paola|last9=Fang|first9=Mingyan|date=2015-02-05|title=Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6|url=http://www.cell.com/ajhg/abstract/S0002-9297(14)00517-5|journal=The American Journal of Human Genetics|language=English|volume=96|issue=2|pages=295–300|doi=10.1016/j.ajhg.2014.12.011|issn=0002-9297|pmid=25620207|pmc=4320262}}
5. ^{{cite journal | vauthors = Jelacic TM, Kennedy ME, Wickman K, Clapham DE | title = Functional and biochemical evidence for G-protein-gated inwardly rectifying K+ (GIRK) channels composed of GIRK2 and GIRK3 | journal = J. Biol. Chem. | volume = 275 | issue = 46 | pages = 36211–6 | date = November 2000 | pmid = 10956667 | doi = 10.1074/jbc.M007087200 }}
6. ^{{cite journal | vauthors = Lavine N, Ethier N, Oak JN, Pei L, Liu F, Trieu P, Rebois RV, Bouvier M, Hebert TE, Van Tol HH | title = G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase | journal = J. Biol. Chem. | volume = 277 | issue = 48 | pages = 46010–9 | date = November 2002 | pmid = 12297500 | doi = 10.1074/jbc.M205035200 }}
7. ^{{cite journal | vauthors = Hibino H, Inanobe A, Tanemoto M, Fujita A, Doi K, Kubo T, Hata Y, Takai Y, Kurachi Y | title = Anchoring proteins confer G protein sensitivity to an inward-rectifier K(+) channel through the GK domain | journal = EMBO J. | volume = 19 | issue = 1 | pages = 78–83 | date = January 2000 | pmid = 10619846 | pmc = 1171779 | doi = 10.1093/emboj/19.1.78 }}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors = Patil N, Cox DR, Bhat D, Faham M, Myers RM, Peterson AS | title = A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation. | journal = Nat. Genet. | volume = 11 | issue = 2 | pages = 126–9 | year = 1995 | pmid = 7550338 | doi = 10.1038/ng1095-126 }}
  • {{cite journal | vauthors = Ferrer J, Nichols CG, Makhina EN, Salkoff L, Bernstein J, Gerhard D, Wasson J, Ramanadham S, Permutt A | title = Pancreatic islet cells express a family of inwardly rectifying K+ channel subunits which interact to form G-protein-activated channels. | journal = J. Biol. Chem. | volume = 270 | issue = 44 | pages = 26086–91 | year = 1995 | pmid = 7592809 | doi = 10.1074/jbc.270.44.26086 }}
  • {{cite journal | vauthors = Tsaur ML, Menzel S, Lai FP, Espinosa R, Concannon P, Spielman RS, Hanis CL, Cox NJ, Le Beau MM, German MS | title = Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM. | journal = Diabetes | volume = 44 | issue = 5 | pages = 592–6 | year = 1995 | pmid = 7729621 | doi = 10.2337/diabetes.44.5.592 }}
  • {{cite journal | vauthors = Lesage F, Duprat F, Fink M, Guillemare E, Coppola T, Lazdunski M, Hugnot JP | title = Cloning provides evidence for a family of inward rectifier and G-protein coupled K+ channels in the brain. | journal = FEBS Lett. | volume = 353 | issue = 1 | pages = 37–42 | year = 1994 | pmid = 7926018 | doi = 10.1016/0014-5793(94)01007-2 }}
  • {{cite journal | vauthors = Liao YJ, Jan YN, Jan LY | title = Heteromultimerization of G-protein-gated inwardly rectifying K+ channel proteins GIRK1 and GIRK2 and their altered expression in weaver brain. | journal = J. Neurosci. | volume = 16 | issue = 22 | pages = 7137–50 | year = 1996 | pmid = 8929423 | doi = }}
  • {{cite journal | vauthors = Signorini S, Liao YJ, Duncan SA, Jan LY, Stoffel M | title = Normal cerebellar development but susceptibility to seizures in mice lacking G protein-coupled, inwardly rectifying K+ channel GIRK2. | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 94 | issue = 3 | pages = 923–7 | year = 1997 | pmid = 9023358 | pmc = 19615 | doi = 10.1073/pnas.94.3.923 }}
  • {{cite journal | vauthors = Ohira M, Seki N, Nagase T, Suzuki E, Nomura N, Ohara O, Hattori M, Sakaki Y, Eki T, Murakami Y, Saito T, Ichikawa H, Ohki M | title = Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21. | journal = Genome Res. | volume = 7 | issue = 1 | pages = 47–58 | year = 1997 | pmid = 9037601 | doi = 10.1101/gr.7.1.47 }}
  • {{cite journal | vauthors = Huang CL, Jan YN, Jan LY | title = Binding of the G protein betagamma subunit to multiple regions of G protein-gated inward-rectifying K+ channels. | journal = FEBS Lett. | volume = 405 | issue = 3 | pages = 291–8 | year = 1997 | pmid = 9108307 | doi = 10.1016/S0014-5793(97)00197-X }}
  • {{cite journal | vauthors = Dahmane N, Ghezala GA, Gosset P, Chamoun Z, Dufresne-Zacharia MC, Lopes C, Rabatel N, Gassanova-Maugenre S, Chettouh Z, Abramowski V, Fayet E, Yaspo ML, Korn B, Blouin JL, Lehrach H, Poutska A, Antonarakis SE, Sinet PM, Créau N, Delabar JM | title = Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. | journal = Genomics | volume = 48 | issue = 1 | pages = 12–23 | year = 1998 | pmid = 9503011 | doi = 10.1006/geno.1997.5146 }}
  • {{cite journal | vauthors = Inanobe A, Horio Y, Fujita A, Tanemoto M, Hibino H, Inageda K, Kurachi Y | title = Molecular cloning and characterization of a novel splicing variant of the Kir3.2 subunit predominantly expressed in mouse testis. | journal = J. Physiol. | volume = Pt 1 | issue = | pages = 19–30 | year = 2000 | pmid = 10562331 | pmc = 2269641 | doi = 10.1111/j.1469-7793.1999.00019.x| series = 521 }}
  • {{cite journal | vauthors = Hibino H, Inanobe A, Tanemoto M, Fujita A, Doi K, Kubo T, Hata Y, Takai Y, Kurachi Y | title = Anchoring proteins confer G protein sensitivity to an inward-rectifier K(+) channel through the GK domain. | journal = EMBO J. | volume = 19 | issue = 1 | pages = 78–83 | year = 2000 | pmid = 10619846 | pmc = 1171779 | doi = 10.1093/emboj/19.1.78 }}
  • {{cite journal | vauthors = Schoots O, Wilson JM, Ethier N, Bigras E, Hebert TE, Van Tol HH | title = Co-expression of human Kir3 subunits can yield channels with different functional properties. | journal = Cell. Signal. | volume = 11 | issue = 12 | pages = 871–83 | year = 2000 | pmid = 10659995 | doi = 10.1016/S0898-6568(99)00059-5 }}
  • {{cite journal | vauthors = Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML | title = The DNA sequence of human chromosome 21. | journal = Nature | volume = 405 | issue = 6784 | pages = 311–9 | year = 2000 | pmid = 10830953 | doi = 10.1038/35012518 }}
  • {{cite journal | vauthors = Jelacic TM, Kennedy ME, Wickman K, Clapham DE | title = Functional and biochemical evidence for G-protein-gated inwardly rectifying K+ (GIRK) channels composed of GIRK2 and GIRK3. | journal = J. Biol. Chem. | volume = 275 | issue = 46 | pages = 36211–6 | year = 2000 | pmid = 10956667 | doi = 10.1074/jbc.M007087200 }}
  • {{cite journal | vauthors = Chen L, Kawano T, Bajic S, Kaziro Y, Itoh H, Art JJ, Nakajima Y, Nakajima S | title = A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome. | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 99 | issue = 12 | pages = 8430–5 | year = 2002 | pmid = 12034888 | pmc = 123084 | doi = 10.1073/pnas.122682899 }}
  • {{cite journal | vauthors = Lavine N, Ethier N, Oak JN, Pei L, Liu F, Trieu P, Rebois RV, Bouvier M, Hebert TE, Van Tol HH | title = G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase. | journal = J. Biol. Chem. | volume = 277 | issue = 48 | pages = 46010–9 | year = 2003 | pmid = 12297500 | doi = 10.1074/jbc.M205035200 }}
  • {{cite journal | vauthors = Ivanina T, Rishal I, Varon D, Mullner C, Frohnwieser-Steinecke B, Schreibmayer W, Dessauer CW, Dascal N | title = Mapping the Gbetagamma-binding sites in GIRK1 and GIRK2 subunits of the G protein-activated K+ channel. | journal = J. Biol. Chem. | volume = 278 | issue = 31 | pages = 29174–83 | year = 2003 | pmid = 12743112 | doi = 10.1074/jbc.M304518200 }}
{{refend}}

External links

  • {{MeshName|KCNJ6+protein,+human}}
{{NLM content}}{{Ion channels|g3}}

1 : Ion channels

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