Aliases for KCNJ11 Gene
- Potassium Voltage-Gated Channel Subfamily J Member 11 2 3 5
- Potassium Inwardly-Rectifying Channel, Subfamily J, Member 11 2 3
- Potassium Channel, Inwardly Rectifying Subfamily J Member 11 3 4
- Inward Rectifier K(+) Channel Kir6.2 3 4
- IKATP 3 4
- Potassium Channel Inwardly Rectifing Subfamily J Member 11 3
- ATP-Sensitive Inward Rectifier Potassium Channel 11 3
- Inwardly Rectifying Potassium Channel KIR6.2 3
External Ids for KCNJ11 Gene
Previous GeneCards Identifiers for KCNJ11 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, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
GeneCards Summary for KCNJ11 Gene
KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11) is a Protein Coding gene. Diseases associated with KCNJ11 include Diabetes Mellitus, Permanent Neonatal and Hyperinsulinemic Hypoglycemia, Familial, 2. Among its related pathways are Insulin secretion and Cardiac conduction. GO annotations related to this gene include protein C-terminus binding and voltage-gated potassium channel activity. An important paralog of this gene is KCNJ8.
UniProtKB/Swiss-Prot for KCNJ11 Gene
This receptor is controlled by G proteins. 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 (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.
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.