KCNJ11, Official Symbol KCNJ11provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 11provided by HGNC Primary source HGNC:HGNC:6257 See related Ensembl:ENSG00000187486 MIM:600937; AllianceGenome:HGNC:6257 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BIR; HHF2; PHHI; IKATP; PNDM2; TNDM3; KIR6.2; MODY13 Summary 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] Expression Broad expression in brain (RPKM 2.5), thyroid (RPKM 2.3) and 20 other tissues See more Orthologs mouse all