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Liu, D. KCNJ5 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4293 (accessed on 27 July 2024).
Liu D. KCNJ5 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4293. Accessed July 27, 2024.
Liu, Dean. "KCNJ5 Gene" Encyclopedia, https://encyclopedia.pub/entry/4293 (accessed July 27, 2024).
Liu, D. (2020, December 23). KCNJ5 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4293
Liu, Dean. "KCNJ5 Gene." Encyclopedia. Web. 23 December, 2020.
KCNJ5 Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/kcnj5

Potassium voltage-gated channel subfamily J member 5

genes

1. Introduction

The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium (K+) into and out of cells. Potassium channels produced from the KCNJ5 gene are found in several tissues, including the adrenal glands, which are small hormone-producing glands located on top of each kidney. In these glands, the flow of ions creates an electrical charge across the cell membrane, which affects the triggering of certain biochemical processes that regulate aldosterone production. Aldosterone helps control blood pressure by maintaining proper salt and fluid levels in the body.

2. Health Conditions Related to Genetic Changes

2.1. Aldosterone-Producing Adenoma

Mutations in the KCNJ5 gene cause about 40 percent of aldosterone-producing adenomas, which are noncancerous (benign) tumors that form in the adrenal glands. The genetic changes involved in these tumors, called somatic mutations, are acquired during a person's lifetime and are present only in adrenal gland cells that give rise to the tumor.

KCNJ5 gene mutations associated with this condition change single protein building blocks (amino acids) in the potassium channel. The altered potassium channels are less selective, allowing other ions, particularly sodium, to pass through. The flow of sodium ions into adrenal gland cells affects the electrical charge across the cell membrane, activating another type of channel that allows calcium ions to enter. The influx of calcium ions overactivates a process called the calcium/calmodulin pathway that increases aldosterone production, resulting in excess aldosterone and leading to high blood pressure (hypertension) and an increased risk of heart attack and stroke. Overactivation of the calcium/calmodulin pathway in the adrenal glands also increases cell growth and division (proliferation), which promotes adenoma formation.

2.2. Familial Hyperaldosteronism

Inherited KCNJ5 gene mutations have been identified in people with familial hyperaldosteronism type III. These mutations, known as germline mutations, are found in every cell of the body. Familial hyperaldosteronism causes hypertension, and some affected individuals have abnormally large adrenal glands (adrenal hyperplasia). As in aldosterone-producing adenomas (described above), KCNJ5 gene mutations result in production of less-selective potassium channels. The abnormal flow of ions through these channels leads to increased aldosterone production, causing hypertension.

3. Other Names for This Gene

  • cardiac ATP-sensitive potassium channel

  • CIR

  • G protein-activated inward rectifier potassium channel 4

  • GIRK4

  • heart KATP channel

  • inward rectifier K+ channel KIR3.4

  • IRK-4

  • KATP1

  • KIR3.4

  • LQT13

  • potassium channel, inwardly rectifying subfamily J, member 5

  • potassium inwardly-rectifying channel, subfamily J, member 5

References

  1. Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y,Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G,Åkerström G, Wang W, Carling T, Lifton RP. K+ channel mutations in adrenalaldosterone-producing adenomas and hereditary hypertension. Science. 2011 Feb11;331(6018):768-72. doi: 10.1126/science.1198785.
  2. Funder JW. The genetic basis of primary aldosteronism. Curr Hypertens Rep.2012 Apr;14(2):120-4. doi: 10.1007/s11906-012-0255-x. Review.
  3. Lenzini L, Rossitto G, Maiolino G, Letizia C, Funder JW, Rossi GP. AMeta-Analysis of Somatic KCNJ5 K(+) Channel Mutations In 1636 Patients With anAldosterone-Producing Adenoma. J Clin Endocrinol Metab. 2015 Aug;100(8):E1089-95.doi: 10.1210/jc.2015-2149.
  4. Monticone S, Hattangady NG, Penton D, Isales CM, Edwards MA, Williams TA,Sterner C, Warth R, Mulatero P, Rainey WE. a Novel Y152C KCNJ5 mutationresponsible for familial hyperaldosteronism type III. J Clin Endocrinol Metab.2013 Nov;98(11):E1861-5. doi: 10.1210/jc.2013-2428.
  5. Moraitis AG, Rainey WE, Auchus RJ. Gene mutations that promote adrenalaldosterone production, sodium retention, and hypertension. Appl Clin Genet. 2013Dec 24;7:1-13. doi: 10.2147/TACG.S35571. Review.
  6. Mulatero P, Monticone S, Rainey WE, Veglio F, Williams TA. Role of KCNJ5 infamilial and sporadic primary aldosteronism. Nat Rev Endocrinol. 2013Feb;9(2):104-12. doi: 10.1038/nrendo.2012.230.
  7. Mulatero P, Tauber P, Zennaro MC, Monticone S, Lang K, Beuschlein F, FischerE, Tizzani D, Pallauf A, Viola A, Amar L, Williams TA, Strom TM, Graf E, BandulikS, Penton D, Plouin PF, Warth R, Allolio B, Jeunemaitre X, Veglio F, Reincke M.KCNJ5 mutations in European families with nonglucocorticoid remediable familialhyperaldosteronism. Hypertension. 2012 Feb;59(2):235-40. doi:10.1161/HYPERTENSIONAHA.111.183996.
  8. Scholl UI, Lifton RP. New insights into aldosterone-producing adenomas andhereditary aldosteronism: mutations in the K+ channel KCNJ5. Curr Opin NephrolHypertens. 2013 Mar;22(2):141-7. doi: 10.1097/MNH.0b013e32835cecf8. Review.
  9. Scholl UI, Nelson-Williams C, Yue P, Grekin R, Wyatt RJ, Dillon MJ, Couch R,Hammer LK, Harley FL, Farhi A, Wang WH, Lifton RP. Hypertension with or withoutadrenal hyperplasia due to different inherited mutations in the potassium channelKCNJ5. Proc Natl Acad Sci U S A. 2012 Feb 14;109(7):2533-8. doi:10.1073/pnas.1121407109.
  10. Stowasser M. Primary aldosteronism and potassium channel mutations. Curr Opin Endocrinol Diabetes Obes. 2013 Jun;20(3):170-9. doi:10.1097/MED.0b013e32835ef2fd. Review.
  11. Zennaro MC, Jeunemaitre X. Mutations in KCNJ5 gene cause hyperaldosteronism.Circ Res. 2011 Jun 10;108(12):1417-8. doi: 10.1161/RES.0b013e318224a359. Review.
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Subjects: Genetics & Heredity
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Dean Liu
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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