Aliases for KCNJ2 Gene
External Ids for KCNJ2 Gene
Previous GeneCards Identifiers for KCNJ2 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for KCNJ2 Gene
KCNJ2 (Potassium Channel, Inwardly Rectifying Subfamily J, Member 2) is a Protein Coding gene. Diseases associated with KCNJ2 include short qt syndrome 3 and atrial fibrillation, familial, 9. Among its related pathways are GABA receptor activation and Transmission across Chemical Synapses. GO annotations related to this gene include identical protein binding and inward rectifier potassium channel activity. An important paralog of this gene is KCNJ3.
UniProtKB/Swiss-Prot for KCNJ2 Gene
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
The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (KIR2.x), the G-protein-activated inward-rectifier channels (KIR3.x) and the ATP-sensitive channels (KIR6.x, which combine with sulphonylurea receptors (SUR)). Structurally, the pore-forming subunit of KIR channels is the alpha-subunit. It contains a single pore domain between two membrane spanning regions. Four alpha-subunits combine to form a tetramer, with the pore domain of each subunit contributing to the structure of the central pore. Heteromeric channels can also be formed within subfamilies, e.g. KIR3.2 with KIR3.3.