KCNJ6
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKCNJ6, BIR1, GIRK-2, GIRK2, KATP-2, KATP2, KCNJ7, KIR3.2, hiGIRK2, KPLBS, potassium voltage-gated channel subfamily J member 6, potassium inwardly rectifying channel subfamily J member 6
External IDsOMIM: 600877 MGI: 104781 HomoloGene: 1688 GeneCards: KCNJ6
Orthologs
SpeciesHumanMouse
Entrez

3763

16522

Ensembl

ENSG00000157542

ENSMUSG00000043301

UniProt

P48051

P48542

RefSeq (mRNA)

NM_002240

NM_001025584
NM_001025585
NM_001025590
NM_010606

RefSeq (protein)

NP_002231

NP_001020755
NP_001020756
NP_001020761
NP_034736

Location (UCSC)Chr 21: 37.61 – 38.12 MbChr 16: 94.55 – 94.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

G protein-activated inward rectifier potassium channel 2 is a protein that in humans is encoded by the KCNJ6 gene.[5][6][7] Mutation in KCNJ6 gene has been proposed to be the cause of Keppen-Lubinsky Syndrome (KPLBS). [8]

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.[7]

Interactions

KCNJ6 has been shown to interact with KCNJ9[9][10] and DLG1.[11]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000157542 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043301 - 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. ^ Sakura H, Bond C, Warren-Perry M, Horsley S, Kearney L, Tucker S, Adelman J, Turner R, Ashcroft FM (August 1995). "Characterization and variation of a human inwardly-rectifying-K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit". FEBS Lett. 367 (2): 193–7. doi:10.1016/0014-5793(95)00498-X. PMID 7796919. S2CID 21441896.
  6. ^ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (December 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.
  7. ^ a b "Entrez Gene: KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6".
  8. ^ Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, Celluzzi A, Bencivenga P, Fang M (2015-02-05). "Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6". The American Journal of Human Genetics. 96 (2): 295–300. doi:10.1016/j.ajhg.2014.12.011. ISSN 0002-9297. PMC 4320262. PMID 25620207.
  9. ^ Jelacic TM, Kennedy ME, Wickman K, Clapham DE (November 2000). "Functional and biochemical evidence for G-protein-gated inwardly rectifying K+ (GIRK) channels composed of GIRK2 and GIRK3". J. Biol. Chem. 275 (46): 36211–6. doi:10.1074/jbc.M007087200. PMID 10956667.
  10. ^ Lavine N, Ethier N, Oak JN, Pei L, Liu F, Trieu P, Rebois RV, Bouvier M, Hebert TE, Van Tol HH (November 2002). "G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase". J. Biol. Chem. 277 (48): 46010–9. doi:10.1074/jbc.M205035200. PMID 12297500.
  11. ^ Hibino H, Inanobe A, Tanemoto M, Fujita A, Doi K, Kubo T, Hata Y, Takai Y, Kurachi Y (January 2000). "Anchoring proteins confer G protein sensitivity to an inward-rectifier K(+) channel through the GK domain". EMBO J. 19 (1): 78–83. doi:10.1093/emboj/19.1.78. PMC 1171779. PMID 10619846.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Membrane transport protein: ion channels (TC 1A)
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