Biology:KCNJ6
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Short description: Protein-coding gene in the species Homo sapiens
 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
- G protein-coupled inwardly-rectifying potassium channel
- Inward-rectifier potassium ion channel
References
- ↑ "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.
- ↑ "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.
- ↑ 3.0 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.
- ↑ 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.
- ↑ "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.
- ↑ "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.
- ↑ "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
- "A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation.". Nat. Genet. 11 (2): 126–9. 1995. doi:10.1038/ng1095-126. PMID 7550338.
- "Pancreatic islet cells express a family of inwardly rectifying K+ channel subunits which interact to form G-protein-activated channels.". J. Biol. Chem. 270 (44): 26086–91. 1995. doi:10.1074/jbc.270.44.26086. PMID 7592809.
- "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.". Diabetes 44 (5): 592–6. 1995. doi:10.2337/diabetes.44.5.592. PMID 7729621.
- "Cloning provides evidence for a family of inward rectifier and G-protein coupled K+ channels in the brain.". FEBS Lett. 353 (1): 37–42. 1994. doi:10.1016/0014-5793(94)01007-2. PMID 7926018.
- "Heteromultimerization of G-protein-gated inwardly rectifying K+ channel proteins GIRK1 and GIRK2 and their altered expression in weaver brain.". J. Neurosci. 16 (22): 7137–50. 1996. doi:10.1523/JNEUROSCI.16-22-07137.1996. PMID 8929423.
- "Normal cerebellar development but susceptibility to seizures in mice lacking G protein-coupled, inwardly rectifying K+ channel GIRK2.". Proc. Natl. Acad. Sci. U.S.A. 94 (3): 923–7. 1997. doi:10.1073/pnas.94.3.923. PMID 9023358. Bibcode: 1997PNAS...94..923S.
- "Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21.". Genome Res. 7 (1): 47–58. 1997. doi:10.1101/gr.7.1.47. PMID 9037601.
- "Binding of the G protein betagamma subunit to multiple regions of G protein-gated inward-rectifying K+ channels.". FEBS Lett. 405 (3): 291–8. 1997. doi:10.1016/S0014-5793(97)00197-X. PMID 9108307.
- "Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome.". Genomics 48 (1): 12–23. 1998. doi:10.1006/geno.1997.5146. PMID 9503011.
- "Molecular cloning and characterization of a novel splicing variant of the Kir3.2 subunit predominantly expressed in mouse testis.". J. Physiol.. 521 Pt 1 (Pt 1): 19–30. 2000. doi:10.1111/j.1469-7793.1999.00019.x. PMID 10562331.
- "Anchoring proteins confer G protein sensitivity to an inward-rectifier K(+) channel through the GK domain.". EMBO J. 19 (1): 78–83. 2000. doi:10.1093/emboj/19.1.78. PMID 10619846.
- "Co-expression of human Kir3 subunits can yield channels with different functional properties.". Cell. Signal. 11 (12): 871–83. 2000. doi:10.1016/S0898-6568(99)00059-5. PMID 10659995.
- "The DNA sequence of human chromosome 21.". Nature 405 (6784): 311–9. 2000. doi:10.1038/35012518. PMID 10830953. Bibcode: 2000Natur.405..311H. https://archive-ouverte.unige.ch/unige:8796.
- "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. 2000. doi:10.1074/jbc.M007087200. PMID 10956667.
- "A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome.". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8430–5. 2002. doi:10.1073/pnas.122682899. PMID 12034888. Bibcode: 2002PNAS...99.8430C.
- "G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase.". J. Biol. Chem. 277 (48): 46010–9. 2003. doi:10.1074/jbc.M205035200. PMID 12297500.
- "Mapping the Gbetagamma-binding sites in GIRK1 and GIRK2 subunits of the G protein-activated K+ channel.". J. Biol. Chem. 278 (31): 29174–83. 2003. doi:10.1074/jbc.M304518200. PMID 12743112.
External links
- KCNJ6+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Overview of all the structural information available in the PDB for UniProt: P48542 (Mouse G protein-activated inward rectifier potassium channel 2) at the PDBe-KB.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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