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KCNJ11 Genepotassium channel, inwardly rectifying subfamily J, member 11 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] |
kcnj11 Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term kcnj11 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
KCNJ11 Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for KCNJ11 from the Pathway Commons Protein-Protein Interactions dataset. |
KCNJ11 Gene SetFrom CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the KCNJ11 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas. |
EPI-1958-1 (KCNJ11) Gene Setproteins in the EPI-1958-1 (KCNJ11) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset. |