KCNJ10

This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes.

Full Name

Potassium Voltage-Gated Channel Subfamily J Member 10

Function

May be responsible for potassium buffering action of glial cells in the brain. 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 and cesium (By similarity).
In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules.

Biological Process

Adult walking behaviorIEA:Ensembl
Central nervous system myelinationIEA:Ensembl
Glutamate reuptakeIEA:Ensembl
Non-motile cilium assemblyIEA:Ensembl
Potassium ion homeostasisIEA:Ensembl
Potassium ion import across plasma membraneManual Assertion Based On ExperimentIBA:GO_Central
Potassium ion transportManual Assertion Based On ExperimentTAS:ProtInc
Regulation of ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Regulation of long-term neuronal synaptic plasticityIEA:Ensembl
Regulation of resting membrane potentialIEA:Ensembl
Visual perceptionIEA:Ensembl

Cellular Location

Membrane; Basolateral cell membrane. In kidney distal convoluted tubules, located in the basolateral membrane where it colocalizes with KCNJ16.

Involvement in disease

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES):
A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.

Topology

Cytoplasmic: 1-64
Helical: 65-89
Extracellular: 90-114
Helical: 115-126
Pore-forming: 127-133
Extracellular: 134-142
Helical: 143-164
Cytoplasmic: 165-379