Aliases for KCNJ12 Gene
- Potassium Voltage-Gated Channel Subfamily J Member 12 2 3 5
- Potassium Inwardly-Rectifying Channel, Subfamily J, Inhibitor 1 2 3
- Inward Rectifier K(+) Channel Kir2.2v 3 4
- KCNJN1 3 4
- IRK-2 3 4
- IRK2 3 4
- Potassium Channel, Inwardly Rectifying Subfamily J, Member 12 3
- Potassium Inwardly-Rectifying Channel, Subfamily J, Member 12 2
- Potassium Channel, Inwardly Rectifying Subfamily J Member 12 4
- ATP-Sensitive Inward Rectifier Potassium Channel 12 3
External Ids for KCNJ12 Gene
Previous HGNC Symbols for KCNJ12 Gene
Previous GeneCards Identifiers for KCNJ12 Gene
This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
GeneCards Summary for KCNJ12 Gene
KCNJ12 (Potassium Voltage-Gated Channel Subfamily J Member 12) is a Protein Coding gene. Diseases associated with KCNJ12 include Smith-Magenis Syndrome and Leber Congenital Amaurosis 16. Among its related pathways are GABA receptor activation and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ18.
UniProtKB/Swiss-Prot for KCNJ12 Gene
Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that probably participates in controlling the resting membrane potential in electrically excitable cells. 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.
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.