Potassium Channel, Voltage-Gated, ISK-Related Subfamily, Member 2

Alternative Names

  • KCNE2
  • Minimum Potassium Ion Channel-Related Peptide 1
  • MIRP1
  • Mink-Related Peptide 1
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OMIM Number

603796

NCBI Gene ID

9992

Uniprot ID

Q9Y6J6

Length

7,376 bases

No. of Exons

2

Protein Name

Potassium voltage-gated channel subfamily E member 2

Molecular Mass

14472 Da

Amino Acid Count

123

Genomic Location

chr21:34,364,005-34,371,380

Gene Map Locus
21q22.11

Description

The KCNE2 gene encodes the subunit of a voltage gated potassium channel.  By associating with the pore forming protein KCNH2, it generates a rapid delayed-rectifier channel.  KCNE2 is responsible for modulating the gating kinetics and enhancing the stability of the channel complex.  As it regulates several cardiac ion channels, it is integral to the maintenance of the heart rate and rhythm. 

Mutations in KCNE2 have been associated with Long QT Syndrome 6 (LQT6).  These mutations alter the protein’s functioning, resulting in slowly-opening and rapidly-closing channels that decrease the flow of potassium ions out of the cells.  This causes delayed repolarization of the heart following a heartbeat and results in arrhythmia.  In LQT6, also known as Romano-Ward syndrome, this can lead to syncope, seizures and even sudden death.  A mutation in the gene has also been linked to rare cases of familial atrial fibrillation 4.  The mutation alters the protein function leading to an increase in the flow of potassium ions through certain channels.  The enhanced ion transport results in uncoordinated electrical activity in the atria of the heart.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Wakil et al. (2016) aimed to identify gene loci in Saudi Arabs that were associated with Coronary Artery Disease (CAD) and Myocardial Infarction (MI).  To do this, they recruited 2668 patients and 3000 healthy controls, all of ethnic Saudi origin. The individuals were genotyped and statistical analysis was carried out.  For the GWAS study, a p value less than 5x10-8 was considered significant while a p value less than 1x10-5 was considered suggestive of an association.  Several SNPS were found to be associated with CAD/MI.  Of these, the KCNE2 gene carried the SNP rs9982601 that showed a conspicuous association with MI [p=3.49E-08, OR=1.38(1.23-1.55)].  The rs9982601_T allele was found to be the risk allele for the disease, similar to studies in European and South Asian populations.  As earlier studies in different ethnic groups had implicated KCNE2 in CAD, early onset atrial fibrillation, sudden death and long QT syndrome, this study confirmed its cardiovascular association in Arabs. 

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