KCNJ11

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]

Description

Potassium inwardly rectifying channel subfamily J member 11

Tissue specificity

Group enriched (skeletal muscle, tongue)

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Chromosome

11 (17385248 - 17389331)

Ensembl ID

ENSG00000187486  (ver. 103.38)

Orthologs

Mouse Kcnj11: ENSMUSG00000096146

UniProt

Q14654

neXtProt

NX_Q14654

Human splice variants
Mouse splice variants

Protein structure