KCNJ2

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features.

potassium inwardly rectifying channel subfamily J member 2

Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium.

Cardiac muscle cell action potential involved in contractionManual Assertion Based On ExperimentIMP:BHF-UCL
Cellular potassium ion homeostasisManual Assertion Based On ExperimentTAS:BHF-UCL
Cellular response to mechanical stimulusIEA:Ensembl
Magnesium ion transportIEA:Ensembl
Membrane depolarization during cardiac muscle cell action potentialManual Assertion Based On ExperimentTAS:BHF-UCL
Membrane repolarization during action potentialManual Assertion Based On ExperimentIMP:BHF-UCL
Membrane repolarization during cardiac muscle cell action potentialManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of potassium ion transmembrane transportIEA:Ensembl
Potassium ion import across plasma membraneManual Assertion Based On ExperimentIDA:BHF-UCL
Potassium ion transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL
Potassium ion transportManual Assertion Based On ExperimentIDA:UniProtKB
Protein homotetramerizationManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of cardiac muscle cell contractionIEA:Ensembl
Regulation of heart rate by cardiac conductionManual Assertion Based On ExperimentIMP:BHF-UCL

Membrane

Long QT syndrome 7 (LQT7):
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features.
Short QT syndrome 3 (SQT3):
A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves.
Atrial fibrillation, familial, 9 (ATFB9):
A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

Cytoplasmic: 2-81
Helical: 82-106
Extracellular: 107-128
Helical: 129-140
Pore-forming: 141-147
Extracellular: 148-156
Helical: 157-178
Cytoplasmic: 179-427

S-nitrosylation increases the open probability and inward rectifying currents.