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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed January 2007

What is the official name of the KCNE2 gene?

The official name of this gene is “potassium channel, voltage gated subfamily E regulatory beta subunit 2.”

KCNE2 is the gene's official symbol. The KCNE2 gene is also known by other names, listed below.

What is the normal function of the KCNE2 gene?

The KCNE2 gene provides instructions for making a protein that regulates the activity of potassium channels. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.

The specific function of a potassium channel depends on its protein components and its location in the body. The KCNE2 protein regulates several ion channels, including a channel made up of proteins produced by the KCNH2 gene. Channels made with the KCNH2 protein are present in heart (cardiac) muscle, where they transport potassium ions out of cells. This form of ion transport is involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm.

The proteins produced from the KCNH2 and KCNE2 genes interact to form a functional potassium channel. Four alpha subunits, each produced from the KCNH2 gene, form the structure of each channel. One beta subunit, produced from the KCNE2 gene, binds to the channel and regulates its activity.

Does the KCNE2 gene share characteristics with other genes?

The KCNE2 gene belongs to a family of genes called KCN (potassium channels).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? ( in the Handbook.

How are changes in the KCNE2 gene related to health conditions?

Romano-Ward syndrome - caused by mutations in the KCNE2 gene

More than 10 mutations in the KCNE2 gene have been identified in people with Romano-Ward syndrome. These mutations change a single protein building block (amino acid) in the KCNE2 protein, which alters the protein's ability to regulate potassium channels in cardiac muscle cells. The channels open more slowly and close more rapidly than usual, decreasing the flow of potassium ions out of these cells. This disruption in ion transport causes an abnormal heart rhythm (arrhythmia) that increases the risk of fainting (syncope) and sudden death.

familial atrial fibrillation - associated with the KCNE2 gene

A mutation in the KCNE2 gene is associated with rare cases of an abnormal heart rhythm called familial atrial fibrillation. In a small number of people with this condition, researchers have found a mutation that replaces the amino acid arginine with the amino acid cysteine at position 27 of the protein made by the KCNE2 gene (written as Arg27Cys or R27C). In cardiac muscle cells, this mutation appears to increase the flow of potassium ions through certain channels regulated by the KCNE2 protein. The enhanced ion transport may alter the heart's normal rhythm. Researchers are working to determine whether the R27C mutation is the direct cause of atrial fibrillation in these affected individuals.

other disorders - caused by mutations in the KCNE2 gene

Certain drugs, including medications used to treat arrhythmias, infections, seizures, and psychotic disorders, can lead to another type of abnormal heart rhythm in some people. This drug-induced heart condition, which is known as acquired long QT syndrome, increases the risk of cardiac arrest and sudden death. A small percentage of cases of acquired long QT syndrome occur in people who have an underlying mutation in the KCNE2 gene.

Where is the KCNE2 gene located?

Cytogenetic Location: 21q22.12

Molecular Location on chromosome 21: base pairs 34,364,024 to 34,371,141

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The KCNE2 gene is located on the long (q) arm of chromosome 21 at position 22.12.

The KCNE2 gene is located on the long (q) arm of chromosome 21 at position 22.12.

More precisely, the KCNE2 gene is located from base pair 34,364,024 to base pair 34,371,141 on chromosome 21.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about KCNE2?

You and your healthcare professional may find the following resources about KCNE2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the KCNE2 gene or gene products?

  • LQT6
  • minimum potassium ion channel-related peptide 1
  • MinK-related peptide 1
  • MIRP1
  • Potassium channel beta subunit MiRP1
  • potassium voltage-gated channel, Isk-related family, member 2

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding KCNE2?

amino acid ; arginine ; arrhythmia ; atrial ; atrial fibrillation ; cardiac ; cardiac arrest ; cell ; channel ; cysteine ; fainting ; familial ; fibrillation ; gene ; ions ; ion transport ; long QT syndrome ; muscle cells ; mutation ; peptide ; potassium ; protein ; psychotic ; subunit ; syncope ; syndrome ; voltage

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Chiang CE. Congenital and acquired long QT syndrome. Current concepts and management. Cardiol Rev. 2004 Jul-Aug;12(4):222-34. Review. (
  • Gene Review: Long QT Syndrome (
  • Isbrandt D, Friederich P, Solth A, Haverkamp W, Ebneth A, Borggrefe M, Funke H, Sauter K, Breithardt G, Pongs O, Schulze-Bahr E. Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics. J Mol Med (Berl). 2002 Aug;80(8):524-32. Epub 2002 Jun 28. (
  • Lundquist AL, Manderfield LJ, Vanoye CG, Rogers CS, Donahue BS, Chang PA, Drinkwater DC, Murray KT, George AL Jr. Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks). J Mol Cell Cardiol. 2005 Feb;38(2):277-87. Epub 2005 Jan 20. (
  • Lundquist AL, Turner CL, Ballester LY, George AL Jr. Expression and transcriptional control of human KCNE genes. Genomics. 2006 Jan;87(1):119-28. Epub 2005 Nov 21. (
  • McCrossan ZA, Abbott GW. The MinK-related peptides. Neuropharmacology. 2004 Nov;47(6):787-821. Review. (
  • NCBI Gene (
  • Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, Smeets HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 Mar;82(3):182-8. Epub 2004 Feb 4. (
  • Towbin JA, Vatta M. Molecular biology and the prolonged QT syndromes. Am J Med. 2001 Apr 1;110(5):385-98. Review. (
  • Yang Y, Xia M, Jin Q, Bendahhou S, Shi J, Chen Y, Liang B, Lin J, Liu Y, Liu B, Zhou Q, Zhang D, Wang R, Ma N, Su X, Niu K, Pei Y, Xu W, Chen Z, Wan H, Cui J, Barhanin J, Chen Y. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet. 2004 Nov;75(5):899-905. Epub 2004 Sep 13. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: January 2007
Published: February 8, 2016