Kir6.2

KCNJ11
Identifiers
Aliases	KCNJ11, BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, TNDM3, potassium voltage-gated channel subfamily J member 11, potassium inwardly rectifying channel subfamily J member 11, PNDM2
External IDs	OMIM: 600937; MGI: 107501; HomoloGene: 441; GeneCards: KCNJ11; OMA:KCNJ11 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11p15.1 Start 17,365,172 bp End 17,389,331 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 B3|7 29.66 cM Start 45,743,377 bp End 45,750,188 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle tibialis anterior muscle islet of Langerhans prefrontal cortex left ventricle skeletal muscle tissue Brodmann area 9 cingulate gyrus body of pancreas body of stomach Top expressed in medial ganglionic eminence molar calvaria triceps brachii muscle temporal muscle ankle intercostal muscle major salivary gland ankle joint parotid gland More reference expression data BioGPS n/a
Gene ontology Molecular function transmembrane transporter binding potassium ion binding voltage-gated ion channel activity ankyrin binding voltage-gated potassium channel activity ATP-activated inward rectifier potassium channel activity inward rectifier potassium channel activity ATP binding protein binding protein C-terminus binding heat shock protein binding Cellular component integral component of membrane cytosol endosome nuclear envelope membrane intracellular membrane-bounded organelle intercalated disc cell body fiber T-tubule myelin sheath plasma membrane integral component of plasma membrane neuronal cell body endoplasmic reticulum mitochondrion axolemma inward rectifying potassium channel sarcolemma acrosomal vesicle Biological process positive regulation of cation channel activity response to ATP response to estradiol negative regulation of insulin secretion regulation of insulin secretion response to testosterone regulation of membrane potential cellular response to tumor necrosis factor regulation of ion transmembrane transport nervous system process cellular response to nicotine ion transport potassium ion transport response to ischemia potassium ion transmembrane transport glucose metabolic process cellular response to glucose stimulus positive regulation of protein localization to plasma membrane potassium ion import across plasma membrane transmembrane transport regulation of cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3767 16514 Ensembl ENSG00000187486 ENSMUSG00000096146 UniProt Q14654 Q61743 RefSeq (mRNA) NM_000525 NM_001166290 NM_001377296 NM_001377297 NM_001204411 NM_010602 RefSeq (protein) NP_000516 NP_001159762 NP_001364225 NP_001364226 NP_001191340 NP_034732 Location (UCSC) Chr 11: 17.37 – 17.39 Mb Chr 7: 45.74 – 45.75 Mb PubMed search
Wikidata
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K_ir6.2 is a major subunit of the ATP-sensitive K⁺ channel, an inward-rectifier potassium ion channel. The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism.

Structure

It is an integral membrane protein. The 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) to constitute the ATP-sensitive K⁺ channel.

Pathology

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).

See also

• Inward-rectifier potassium ion channel
• Potassium channel

External links

• GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism
• GeneReviews/NCBI/NIH/UW entry on Permanent Neonatal Diabetes Mellitus
• KCNJ11+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• SUR1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.