DISEASES

Disease-gene associations mined from literature

Literature associating KCNJ2 and Andersen-Tawil syndrome

KCNJ2 [ENSP00000243457]

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; Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily.

Synonyms:  KCNJ2,  KCNJ2p,  hKCNJ2,  P63252,  IRK1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM