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KCNJ11
Identifiers
Aliases	KCNJ11, BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, TNDM3, potassium voltage-gated channel subfamily J member 11, potassium inwardly rectifying channel subfamily J member 11, PNDM2
External IDs	OMIM: 600937; MGI: 107501; HomoloGene: 441; GeneCards: KCNJ11; OMA:KCNJ11 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11p15.1 Start 17,365,172 bp End 17,389,331 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 B3|7 29.66 cM Start 45,743,377 bp End 45,750,188 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh tibialis anterior muscle right hemisphere of cerebellum apex of heart islet of Langerhans right frontal lobe prefrontal cortex left ventricle skeletal muscle tissue Top expressed in gastrula muscle of thigh medial ganglionic eminence molar calvaria triceps brachii muscle temporal muscle ankle intercostal muscle major salivary gland More reference expression data BioGPS n/a
Gene ontology Molecular function transmembrane transporter binding potassium ion binding voltage-gated ion channel activity ankyrin binding voltage-gated potassium channel activity ATP-activated inward rectifier potassium channel activity inward rectifier potassium channel activity ATP binding protein binding protein C-terminus binding heat shock protein binding Cellular component integral component of membrane cytosol endosome nuclear envelope membrane intracellular membrane-bounded organelle intercalated disc cell body fiber T-tubule myelin sheath plasma membrane integral component of plasma membrane soma endoplasmic reticulum mitochondrion axolemma inward rectifying potassium channel sarcolemma acrosomal vesicle Biological process positive regulation of cation channel activity response to ATP response to estradiol negative regulation of insulin secretion regulation of insulin secretion response to testosterone regulation of membrane potential cellular response to tumor necrosis factor regulation of ion transmembrane transport nervous system process cellular response to nicotine ion transport potassium ion transport response to ischemia potassium ion transmembrane transport glucose metabolic process cellular response to glucose stimulus positive regulation of protein localization to plasma membrane potassium ion import across plasma membrane transmembrane transport regulation of cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3767 16514 Ensembl ENSG00000187486 ENSMUSG00000096146 UniProt Q14654 Q61743 RefSeq (mRNA) NM_000525 NM_001166290 NM_001377296 NM_001377297 NM_001204411 NM_010602 RefSeq (protein) NP_000516 NP_001159762 NP_001364225 NP_001364226 NP_001191340 NP_034732 Location (UCSC) Chr 11: 17.37 – 17.39 Mb Chr 7: 45.74 – 45.75 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

K_ir6.2 is a major subunit of the ATP-sensitive K channel, a lipid-gated inward-rectifier potassium ion channel. The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism.

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 congenital hyperinsulinism (CHI), 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).

See also

• Inward-rectifier potassium ion channel
• Potassium channel

References

1. ^ GRCh38: Ensembl release 89: ENSG00000187486 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000096146 – 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. ^ "Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11".
6. Smith AJ, Taneja TK, Mankouri J, Sivaprasadarao A (August 2007). "Molecular cell biology of KATP channels: implications for neonatal diabetes". Expert Reviews in Molecular Medicine. 9 (21): 1–17. doi:10.1017/S1462399407000403. PMID 17666135. S2CID 24280714.
7. Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K (April 2013). "Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism". European Journal of Endocrinology. 168 (4): 557–564. doi:10.1530/EJE-12-0673. PMC 3599069. PMID 23345197.
8. Koo BK, Cho YM, Park BL, Cheong HS, Shin HD, Jang HC, et al. (February 2007). "Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population". Diabetic Medicine. 24 (2): 178–186. doi:10.1111/j.1464-5491.2006.02050.x. PMID 17257281. 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. doi:10.1210/edrv.20.2.0361. PMID 10204114.
• Meissner T, Beinbrech B, Mayatepek E (1999). "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Human Mutation. 13 (5): 351–361. doi:10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R. PMID 10338089. 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. doi:10.1124/pr.57.4.11. PMID 16382105. 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. doi:10.1002/humu.20292. PMID 16416420. 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. doi:10.1016/S1262-3636(07)70311-7. 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. Bibcode:1995Sci...270.1166I. doi:10.1126/science.270.5239.1166. PMID 7502040. 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. PMC 1801118. 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. doi:10.2337/diabetes.45.2.267. 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. doi:10.1007/BF02658512. PMID 8897013. 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. doi:10.1093/hmg/5.11.1809. 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. doi:10.2337/diabetes.46.3.502. 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. Bibcode:1997Natur.387..179T. doi:10.1038/387179a0. PMID 9144288. 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. doi:10.1038/10297. PMID 10391210. 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. doi:10.1074/jbc.274.47.33393. 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. doi:10.1073/pnas.011370498. PMC 14656. 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. doi:10.1074/jbc.M112209200. 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. doi:10.1093/emboj/cdf388. PMC 126135. 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. doi:10.2337/diabetes.51.9.2854. 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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