Kir6.2
| Potassium inwardly-rectifying channel, subfamily J, member 11 | |||||||||||
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| Identifiers | |||||||||||
| Symbols | KCNJ11 ; BIR; HHF2; IKATP; KIR6.2; MGC133230; PHHI; TNDM3 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 441 | ||||||||||
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| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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Kir6.2 is a major subunit of the ATP-sensitive K+ channel, an inward-rectifier potassium ion channel.[1] The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism.[2]
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 familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM).[1][3]
See also
References
- ↑ 1.0 1.1 "Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11".
- ↑ Smith AJ, Taneja TK, Mankouri J, Sivaprasadarao A (2007). "Molecular cell biology of KATP channels: implications for neonatal diabetes". Expert Rev Mol Med. 9 (21): 1–17. doi:10.1017/S1462399407000403. PMID 17666135.
- ↑ Koo BK, Cho YM, Park BL, Cheong HS, Shin HD, Jang HC, Kim SY, Lee HK, Park KS (2007). "Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population". Diabet. Med. 24 (2): 178–86. doi:10.1111/j.1464-5491.2006.02050.x. PMID 17257281.
Further reading
- Aguilar-Bryan L, Bryan J (1999). "Molecular biology of adenosine triphosphate-sensitive potassium channels". Endocr. Rev. 20 (2): 101–35. PMID 10204114.
- Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Hum. Mutat. 13 (5): 351–61. doi:10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R. PMID 10338089.
- Kubo Y, Adelman JP, Clapham DE; et al. (2006). "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.
- Gloyn AL, Siddiqui J, Ellard S (2006). "Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism". Hum. Mutat. 27 (3): 220–31. doi:10.1002/humu.20292. PMID 16416420.
- Flechtner I, de Lonlay P, Polak M (2007). "Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences". Diabetes Metab. 32 (6): 569–80. doi:10.1016/S1262-3636(07)70311-7. PMID 17296510.
- Inagaki N, Gonoi T, Clement JP; et al. (1996). "Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor". Science. 270 (5239): 1166–70. PMID 7502040.
- Thomas PM, Cote GJ, Hallman DM, Mathew PM (1995). "Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy". Am. J. Hum. Genet. 56 (2): 416–21. PMID 7847376.
- Iwasaki N, Kawamura M, Yamagata K; et al. (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): 267–9. PMID 8549873.
- Sakura H, Wat N, Horton V; et al. (1997). "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): 1233–6. PMID 8897013.
- Thomas P, Ye Y, Lightner E (1997). "Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy". Hum. Mol. Genet. 5 (11): 1809–12. PMID 8923010.
- Inoue H, Ferrer J, Warren-Perry M; et al. (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): 502–7. PMID 9032109.
- Tucker SJ, Gribble FM, Zhao C; et al. (1997). "Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor". Nature. 387 (6629): 179–83. doi:10.1038/387179a0. PMID 9144288.
- Halushka MK, Fan JB, Bentley K; et al. (1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis". Nat. Genet. 22 (3): 239–47. doi:10.1038/10297. PMID 10391210.
- Tucker SJ, Ashcroft FM (1999). "Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2". J. Biol. Chem. 274 (47): 33393–7. PMID 10559219.
- Cui Y, Giblin JP, Clapp LH, Tinker A (2001). "A mechanism for ATP-sensitive potassium channel diversity: Functional coassembly of two pore-forming subunits". Proc. Natl. Acad. Sci. U.S.A. 98 (2): 729–34. doi:10.1073/pnas.011370498. PMID 11136227.
- Giblin JP, Cui Y, Clapp LH, Tinker A (2002). "Assembly limits the pharmacological complexity of ATP-sensitive potassium channels". J. Biol. Chem. 277 (16): 13717–23. doi:10.1074/jbc.M112209200. PMID 11825905.
- Crawford RM, Budas GR, Jovanović S; et al. (2002). "M-LDH serves as a sarcolemmal K(ATP) channel subunit essential for cell protection against ischemia". EMBO J. 21 (15): 3936–48. doi:10.1093/emboj/cdf388. PMID 12145195.
- Tschritter O, Stumvoll M, Machicao F; et al. (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): 2854–60. PMID 12196481.
External links
- KCNJ11+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- SUR1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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