KCNJ2 : potassium inwardly rectifying channel subfamily J member 2

Description

The KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) is a protein-coding gene located on chromosome 17.

The KCNJ2 gene provides instructions for making potassium channels, which are crucial for transporting potassium ions out of cells, thereby regulating electrical signaling. These channels are active in skeletal muscles and heart muscle, where they play important roles in muscle contraction and relaxation, and heart rhythm maintenance, respectively. The KCNJ2 protein requires a molecule called PIP2 to bind to it for proper function, as this binding activates the ion channel and keeps it open, allowing ion flow across the cell membrane.

The KCNJ2 gene encodes a protein that forms potassium channels responsible for regulating the flow of potassium ions into and out of cells. These channels are particularly important in neuronal and muscle tissues, contributing to the generation and transmission of electrical signals, ultimately influencing action potential waveforms and tissue excitability. KCNJ2 channels are known as inward rectifiers because they preferentially allow potassium to flow into the cell rather than out. The voltage at which these channels open is determined by the concentration of potassium outside the cell, with higher concentrations shifting the opening voltage to more positive values. The inward rectification is primarily caused by magnesium ions blocking the outward flow of potassium. Furthermore, the function of these channels can be blocked by barium or cesium ions in the extracellular environment.

KCNJ2 is also known as ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3.

Associated Diseases

• Familial short QT syndrome
• Andersen cardiodysrhythmic periodic paralysis
• Atrial fibrillation, familial, 9
• Andersen-Tawil syndrome
• Familial atrial fibrillation
• Short QT syndrome 3
• Short QT syndrome