Biology:KCNJ6

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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

References

  1. "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. August 1995. doi:10.1016/0014-5793(95)00498-X. PMID 7796919. 
  2. "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol Rev 57 (4): 509–26. December 2005. doi:10.1124/pr.57.4.11. PMID 16382105. 
  3. 3.0 3.1 "Entrez Gene: KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3763. 
  4. Masotti, Andrea; Uva, Paolo; Davis-Keppen, Laura; Basel-Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola et al. (2015-02-05). "Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6" (in en). The American Journal of Human Genetics 96 (2): 295–300. doi:10.1016/j.ajhg.2014.12.011. ISSN 0002-9297. PMID 25620207. 
  5. "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. November 2000. doi:10.1074/jbc.M007087200. PMID 10956667. 
  6. "G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase". J. Biol. Chem. 277 (48): 46010–9. November 2002. doi:10.1074/jbc.M205035200. PMID 12297500. 
  7. "Anchoring proteins confer G protein sensitivity to an inward-rectifier K(+) channel through the GK domain". EMBO J. 19 (1): 78–83. January 2000. doi:10.1093/emboj/19.1.78. PMID 10619846. 

Further reading

External links

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