Protein-coding gene in the species Homo sapiens
| KCNJ11 |
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| Identifiers |
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| 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 |
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| External IDs | OMIM: 600937 MGI: 107501 HomoloGene: 441 GeneCards: KCNJ11 |
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| Gene location (Human) |
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 | | Chr. | Chromosome 11 (human)[1] |
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| | Band | 11p15.1 | Start | 17,365,172 bp[1] |
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| End | 17,389,331 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 7 (mouse)[2] |
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| | Band | 7 B3|7 29.66 cM | Start | 45,743,377 bp[2] |
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| End | 45,750,188 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - gastrocnemius muscle
- tibialis anterior muscle
- islet of Langerhans
- prefrontal cortex
- left ventricle
- skeletal muscle tissue
- Brodmann area 9
- cingulate gyrus
- body of pancreas
- body of stomach
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| | Top expressed in | - medial ganglionic eminence
- molar
- calvaria
- triceps brachii muscle
- temporal muscle
- ankle
- intercostal muscle
- major salivary gland
- ankle joint
- parotid gland
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| 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
- neuronal cell body
- 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | |
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NM_000525
NM_001166290
NM_001377296
NM_001377297 |
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| RefSeq (protein) | |
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NP_000516
NP_001159762
NP_001364225
NP_001364226 |
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| Location (UCSC) | Chr 11: 17.37 – 17.39 Mb | Chr 7: 45.74 – 45.75 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Kir6.2 is a major subunit of the ATP-sensitive K+ channel, a lipid-gated 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 congenital hyperinsulinism (CHI), an autosomal recessive disorder characterized by unregulated insulin secretion.[7] Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM).[5][8]
See also
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".
- ^ 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.
- ^ 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.
- ^ 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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