Kir6.2
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| Location (UCSC) | Chr 11: 17.37 – 17.39 Mb | Chr 7: 45.74 – 45.75 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Kir6.2 is a major subunit of the
inward-rectifier potassium ion channel.[5] The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism.[6]
Structure
It is an integral membrane protein. The 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 is found associated with the sulfonylurea receptor
(SUR) to constitute the ATP-sensitive K+ channel.
Pathology
Mutations in this gene are a cause of
See also
- Inward-rectifier potassium ion channel
- Potassium channel
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000187486 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000096146 – Ensembl, May 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.
- ^ a b "Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11".
- S2CID 24280714.
- PMID 23345197.
- S2CID 22127350.
Further reading
- Aguilar-Bryan L, Bryan J (April 1999). "Molecular biology of adenosine triphosphate-sensitive potassium channels". Endocrine Reviews. 20 (2): 101–135. PMID 10204114.
- Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Human Mutation. 13 (5): 351–361. S2CID 30125046.
- Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, et al. (December 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacological Reviews. 57 (4): 509–526. S2CID 11588492.
- Gloyn AL, Siddiqui J, Ellard S (March 2006). "Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism". Human Mutation. 27 (3): 220–231. S2CID 38053792.
- Flechtner I, de Lonlay P, Polak M (December 2006). "Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences". Diabetes & Metabolism. 32 (6): 569–580. PMID 17296510.
- Inagaki N, Gonoi T, Clement JP, Namba N, Inazawa J, Gonzalez G, et al. (November 1995). "Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor". Science. 270 (5239): 1166–1170. S2CID 26409797.
- Thomas PM, Cote GJ, Hallman DM, Mathew PM (February 1995). "Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy". American Journal of Human Genetics. 56 (2): 416–421. PMID 7847376.
- Iwasaki N, Kawamura M, Yamagata K, Cox NJ, Karibe S, Ohgawara H, et al. (February 1996). "Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese". Diabetes. 45 (2): 267–269. PMID 8549873.
- Sakura H, Wat N, Horton V, Millns H, Turner RC, Ashcroft FM (October 1996). "Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro". Diabetologia. 39 (10): 1233–1236. S2CID 9490874.
- Thomas P, Ye Y, Lightner E (November 1996). "Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy". Human Molecular Genetics. 5 (11): 1809–1812. PMID 8923010.
- Inoue H, Ferrer J, Warren-Perry M, Zhang Y, Millns H, Turner RC, et al. (March 1997). "Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM". Diabetes. 46 (3): 502–507. PMID 9032109.
- Tucker SJ, Gribble FM, Zhao C, Trapp S, Ashcroft FM (May 1997). "Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor". Nature. 387 (6629): 179–183. S2CID 21570773.
- Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, et al. (July 1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis". Nature Genetics. 22 (3): 239–247. S2CID 4636523.
- Tucker SJ, Ashcroft FM (November 1999). "Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2". The Journal of Biological Chemistry. 274 (47): 33393–33397. PMID 10559219.
- Cui Y, Giblin JP, Clapp LH, Tinker A (January 2001). "A mechanism for ATP-sensitive potassium channel diversity: Functional coassembly of two pore-forming subunits". Proceedings of the National Academy of Sciences of the United States of America. 98 (2): 729–734. PMID 11136227.
- Giblin JP, Cui Y, Clapp LH, Tinker A (April 2002). "Assembly limits the pharmacological complexity of ATP-sensitive potassium channels". The Journal of Biological Chemistry. 277 (16): 13717–13723. PMID 11825905.
- Crawford RM, Budas GR, Jovanović S, Ranki HJ, Wilson TJ, Davies AM, Jovanović A (August 2002). "M-LDH serves as a sarcolemmal K(ATP) channel subunit essential for cell protection against ischemia". The EMBO Journal. 21 (15): 3936–3948. PMID 12145195.
- Tschritter O, Stumvoll M, Machicao F, Holzwarth M, Weisser M, Maerker E, et al. (September 2002). "The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia". Diabetes. 51 (9): 2854–2860. PMID 12196481.
External links
- GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism
- GeneReviews/NCBI/NIH/UW entry on Permanent Neonatal Diabetes Mellitus
- KCNJ11+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- SUR1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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