KCNE2

Overview

KCNE2 is a gene that encodes a protein known as MinK-related peptide 1 (MiRP1), which is a member of the KCNE family of voltage-gated potassium (K+) channel ancillary subunits. These subunits are crucial for the modulation of cardiac and other physiological processes by altering the properties of potassium channels.

Structure

The KCNE2 gene is located on chromosome 21 in humans. The protein product, MiRP1, is a small transmembrane protein that interacts with various potassium channel alpha subunits to modify their function. MiRP1 is characterized by a single transmembrane domain, an extracellular N-terminus, and a cytoplasmic C-terminus.

Function

MiRP1 modulates the function of several potassium channels, including the HERG (human ether-à-go-go-related gene) channel, which is critical for cardiac repolarization. By associating with HERG, MiRP1 alters the kinetics and voltage dependence of the channel, impacting the cardiac action potential duration and, consequently, heart rhythm.

File:Differential-Association-between-HERG-and-KCNE1-or-KCNE2-pone.0000933.s002.ogv

Clinical Significance

Mutations in the KCNE2 gene have been associated with various cardiac arrhythmias, including Long QT syndrome and ventricular fibrillation. These conditions can lead to syncope, seizures, or sudden cardiac death. The role of KCNE2 in these pathologies underscores the importance of proper potassium channel function in maintaining cardiac electrical stability.

Interactions

KCNE2 interacts with several potassium channel alpha subunits, including HERG, KCNQ1, and others. These interactions are essential for the proper functioning of the channels, influencing their gating properties and response to physiological stimuli.

Research

Ongoing research is focused on understanding the precise mechanisms by which KCNE2 modulates potassium channel function and its role in cardiac and other physiological processes. Studies also aim to elucidate the impact of specific KCNE2 mutations on channel function and disease.

Related pages

• Potassium channel
• Long QT syndrome
• Cardiac arrhythmia