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KCNJ6

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
Protein class

Disease related genes, Human disease related genes, Potential drug targets, Transporters, Voltage-gated ion channels

Predicted location

Membrane

Single cell type specificity

Group enriched (Horizontal cells, Excitatory neurons, Inhibitory neurons)

Immune cell specificity

Immune cell enhanced (basophil, eosinophil)

Cell line specificity

Cell line enriched (LHCN-M2)

Interaction

Associates with GIRK1 or GIRK4 to form a G-protein-activated heteromultimer pore-forming unit. The resulting inward current is much larger. Interacts (via PDZ-binding motif) with SNX27 (via PDZ domain); the interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane (By similarity).

Molecular function

Ion channel, Voltage-gated channel

More Types Infomation

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