KCNJ6 gene

potassium voltage-gated channel subfamily J member 6

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Keppen-Lubinsky syndrome

From UniProt:

Keppen-Lubinsky syndrome (KPLBS): A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance. [MIM:614098]

Cytogenetic Location: 21q22.13, which is the long (q) arm of chromosome 21 at position 22.13

Molecular Location: base pairs 37,624,223 to 37,916,438 on chromosome 21 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 21q22.13, which is the long (q) arm of chromosome 21 at position 22.13
  • BIR1
  • GIRK-2
  • GIRK2
  • hiGIRK2
  • KATP-2
  • KATP2
  • KCNJ7
  • KIR3.2