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KCNJ5 gene
URL of this page: https://medlineplus.gov/genetics/gene/kcnj5/

KCNJ5 gene

potassium inwardly rectifying channel subfamily J member 5

Normal Function

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.

Health Conditions Related to Genetic Changes

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.

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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.

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Andersen-Tawil syndrome

MedlinePlus Genetics provides information about Andersen-Tawil syndrome

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Romano-Ward syndrome

MedlinePlus Genetics provides information about Romano-Ward syndrome

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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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Choi M, Scholl UI, Yue P, Bjorklund 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, Akerstrom G, Wang W, Carling T, Lifton RP. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science. 2011 Feb 11;331(6018):768-72. doi: 10.1126/science.1198785. Citation on PubMed or Free article on PubMed Central
  • Funder JW. The genetic basis of primary aldosteronism. Curr Hypertens Rep. 2012 Apr;14(2):120-4. doi: 10.1007/s11906-012-0255-x. Citation on PubMed
  • Lenzini L, Rossitto G, Maiolino G, Letizia C, Funder JW, Rossi GP. A Meta-Analysis of Somatic KCNJ5 K(+) Channel Mutations In 1636 Patients With an Aldosterone-Producing Adenoma. J Clin Endocrinol Metab. 2015 Aug;100(8):E1089-95. doi: 10.1210/jc.2015-2149. Epub 2015 Jun 11. Citation on PubMed
  • Monticone S, Hattangady NG, Penton D, Isales CM, Edwards MA, Williams TA, Sterner C, Warth R, Mulatero P, Rainey WE. a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III. J Clin Endocrinol Metab. 2013 Nov;98(11):E1861-5. doi: 10.1210/jc.2013-2428. Epub 2013 Sep 13. Citation on PubMed or Free article on PubMed Central
  • Moraitis AG, Rainey WE, Auchus RJ. Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertension. Appl Clin Genet. 2013 Dec 24;7:1-13. doi: 10.2147/TACG.S35571. Citation on PubMed or Free article on PubMed Central
  • Mulatero P, Monticone S, Rainey WE, Veglio F, Williams TA. Role of KCNJ5 in familial and sporadic primary aldosteronism. Nat Rev Endocrinol. 2013 Feb;9(2):104-12. doi: 10.1038/nrendo.2012.230. Epub 2012 Dec 11. Citation on PubMed
  • Mulatero P, Tauber P, Zennaro MC, Monticone S, Lang K, Beuschlein F, Fischer E, Tizzani D, Pallauf A, Viola A, Amar L, Williams TA, Strom TM, Graf E, Bandulik S, Penton D, Plouin PF, Warth R, Allolio B, Jeunemaitre X, Veglio F, Reincke M. KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. Hypertension. 2012 Feb;59(2):235-40. doi: 10.1161/HYPERTENSIONAHA.111.183996. Epub 2011 Dec 27. Citation on PubMed
  • Scholl UI, Lifton RP. New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5. Curr Opin Nephrol Hypertens. 2013 Mar;22(2):141-7. doi: 10.1097/MNH.0b013e32835cecf8. Citation on PubMed
  • 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 without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Proc Natl Acad Sci U S A. 2012 Feb 14;109(7):2533-8. doi: 10.1073/pnas.1121407109. Epub 2012 Jan 30. Citation on PubMed or Free article on PubMed Central
  • Stowasser M. Primary aldosteronism and potassium channel mutations. Curr Opin Endocrinol Diabetes Obes. 2013 Jun;20(3):170-9. doi: 10.1097/MED.0b013e32835ef2fd. Citation on PubMed
  • Zennaro MC, Jeunemaitre X. Mutations in KCNJ5 gene cause hyperaldosteronism. Circ Res. 2011 Jun 10;108(12):1417-8. doi: 10.1161/RES.0b013e318224a359. No abstract available. Citation on PubMed

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