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KCNJ11 gene
URL of this page: https://medlineplus.gov/genetics/gene/kcnj11/

KCNJ11 gene

potassium inwardly rectifying channel subfamily J member 11

Normal Function

The KCNJ11 gene provides instructions for making one part (subunit) of the ATP-sensitive potassium (KATP) channels that are found in specialized pancreas cells called beta cells. These KATP channels consist of eight subunits: four of these subunits are produced from the KCNJ11 gene and four are produced from another gene called ABCC8.

These KATP channels span the cell membranes of the beta cells. Beta cells secrete the hormone insulin, which helps control the levels of glucose in the blood, also called blood sugar. Glucose is a simple sugar and the primary energy source for most cells in the body. When blood glucose levels are high, the KATP channels close, which triggers the beta cells to release insulin into the bloodstream. In this way, KATP channels help regulate insulin secretion and control blood glucose levels.

Health Conditions Related to Genetic Changes

Congenital hyperinsulinism

Variants (also called mutations) in the KCNJ11 gene can cause congenital hyperinsulinism. This condition causes frequent episodes of low blood glucose levels, decreased energy, and irritability. Many of the KCNJ11 gene variants that cause congenital hyperinsulinism lead to the substitution of one protein building block (amino acid) for another in the KCNJ11 protein, which impairs the activity of the KATP channels. This causes the beta cells to release too much insulin. As a result, glucose is rapidly removed from the bloodstream. Without treatment, the low blood glucose levels caused by congenital hyperinsulinism may result in serious complications, such as intellectual disabilities and seizures.

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Permanent neonatal diabetes mellitus

Different variants in the KCNJ11 gene cause permanent neonatal diabetes mellitus, which is a form of diabetes that typically appears within the first 6 months after birth (the neonatal period) and continues throughout life. Approximately 25 percent of cases of permanent neonatal diabetes mellitus are caused by a variant in the KCNJ11 gene. Some affected individuals also have neurologic problems, which can include developmental delays, sleep disorders, attention-deficit/hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). The combination of developmental delays, epilepsy, and neonatal diabetes is called DEND syndrome. DEND syndrome is a severe form of permanent neonatal diabetes mellitus. Approximately 20 to 23 percent of people with permanent neonatal diabetes mellitus caused by variants in the KCNJ11 gene have DEND syndrome.

The KCNJ11 gene variants that cause permanent neonatal diabetes mellitus often lead to the substitution of one amino acid for another in the KCNJ11 protein. The altered proteins impair the activity of the KATP channels. As a result, the channels do not close properly, which reduces insulin secretion and leads to higher blood glucose levels. Affected individuals develop a form of diabetes in infancy that lasts throughout life.

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Gestational diabetes

MedlinePlus Genetics provides information about Gestational diabetes

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Maturity-onset diabetes of the young

MedlinePlus Genetics provides information about Maturity-onset diabetes of the young

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Other disorders

Other KCNJ11 gene variants cause a condition called transient neonatal diabetes mellitus. Infants with this condition have high blood levels of glucose during the first 6 months of life, but their blood glucose levels typically return to normal by age 18 months. However, affected individuals often develop high blood glucose levels again during adolescence or early adulthood. As in people with permanent neonatal diabetes mellitus, the KCNJ11 gene variants that cause transient neonatal diabetes mellitus lead to a disruption in the activity of the KATP channels, which reduces insulin secretion. However, these variants have a milder effect on KATP channel function than those that cause permanent neonatal diabetes mellitus.

Other Names for This Gene

  • ATP-sensitive inward rectifier potassium channel 11
  • beta-cell inward rectifier
  • beta-cell inward rectifier subunit
  • BIR
  • inward rectifier K(+) channel Kir6.2
  • inwardly rectifying potassium channel KIR6.2
  • Kir6.2
  • potassium channel, inwardly rectifying subfamily J, member 11
  • potassium channel, inwardly rectifying, BIR subunit

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

  • Bennett K, James C, Hussain K. Pancreatic beta-cell KATP channels: Hypoglycaemia and hyperglycaemia. Rev Endocr Metab Disord. 2010 Sep;11(3):157-63. doi: 10.1007/s11154-010-9144-2. Citation on PubMed
  • De Leon DD, Pinney SE. Permanent Neonatal Diabetes Mellitus. 2008 Feb 8 [updated 2025 Sep 25]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1447/ Citation on PubMed
  • Flanagan SE, Clauin S, Bellanne-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2009 Feb;30(2):170-80. doi: 10.1002/humu.20838. Citation on PubMed
  • Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia. 2006 Jun;49(6):1190-7. doi: 10.1007/s00125-006-0246-z. Epub 2006 Apr 12. Citation on PubMed
  • Gloyn AL, Siddiqui J, Ellard S. 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. 2006 Mar;27(3):220-31. doi: 10.1002/humu.20292. Citation on PubMed
  • Golshan-Tafti M, Bahrami R, Dastgheib SA, Karimi-Zarchi M, Azizi S, Marzbanrad Z, Hajizadeh N, Aghasipour M, Yeganegi M, Shiri A, Aghili K, Neamatzadeh H. Comprehensive data on the relationship between KCNJ11 polymorphisms and gestational diabetes mellitus predisposition: a meta-analysis. J Diabetes Metab Disord. 2024 Apr 18;23(1):475-486. doi: 10.1007/s40200-024-01428-0. eCollection 2024 Jun. Citation on PubMed
  • James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet. 2009 May;46(5):289-99. doi: 10.1136/jmg.2008.064337. Epub 2009 Mar 1. Citation on PubMed
  • Polak M, Cave H. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis. 2007 Mar 9;2:12. doi: 10.1186/1750-1172-2-12. Citation on PubMed or Free article on PubMed Central
  • Reyes S, Park S, Johnson BD, Terzic A, Olson TM. KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired exercise stress response. Hum Genet. 2009 Dec;126(6):779-89. doi: 10.1007/s00439-009-0731-9. Citation on PubMed or Free article on PubMed Central
  • Rubio-Cabezas O, Klupa T, Malecki MT; CEED3 Consortium. Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest. 2011 Mar;41(3):323-33. doi: 10.1111/j.1365-2362.2010.02409.x. Epub 2010 Nov 4. Citation on PubMed

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