Aliases for KCNJ6 Gene
External Ids for KCNJ6 Gene
Previous HGNC Symbols for KCNJ6 Gene
Previous GeneCards Identifiers for KCNJ6 Gene
This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]
GeneCards Summary for KCNJ6 Gene
KCNJ6 (Potassium Voltage-Gated Channel Subfamily J Member 6) is a Protein Coding gene. Diseases associated with KCNJ6 include keppen-lubinsky syndrome and lubinsky syndrome. Among its related pathways are Circadian entrainment and Transmission across Chemical Synapses. GO annotations related to this gene include inward rectifier potassium channel activity and G-protein activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ3.
UniProtKB/Swiss-Prot for KCNJ6 Gene
This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. 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.