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Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)

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Kir6.2; BIR; IKATP; Inward rectifier K(+) channel Kir6.2; ATP-sensitive inward rectifier potassium channel 11

Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11)
CCC P929
HGNC 6257
MGI 107501
PubMed 16609879
RGD 69247
UniProt Q14654
Wiki KCNJ11
KCNJ11 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Inwardly Rectifying Channel Subfamily J, Member 11 (KCNJ11) ELISA Kit Customized Service Offer
  1. "Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor."Science 270:1166-1170(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells."Circ. Res. 83:1132-1143(1998) [PubMed] [Europe PMC] [Abstract]
  6. "Molecular basis for Kir6.2 channel inhibition by adenine nucleotides."Biophys. J. 84:266-276(2003) [PubMed] [Europe PMC] [Abstract]
  7. "Congenital hyperinsulinism: molecular basis of a heterogeneous disease."Hum. Mutat. 13:351-361(1999) [PubMed] [Europe PMC] [Abstract]
  8. "A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit."J. Physiol. (Lond.) 584:743-753(2007) [PubMed] [Europe PMC] [Abstract]
  9. "Functional modulation of the ATP-sensitive potassium channel by extracellular signal-regulated kinase-mediated phosphorylation."Neuroscience 152:371-380(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy."Am. J. Hum. Genet. 56:416-421(1995) [PubMed] [Europe PMC] [Abstract]
  11. "Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy."Hum. Mol. Genet. 5:1809-1812(1996) [PubMed] [Europe PMC] [Abstract]
  12. "Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in white Caucasian subjects or evidence of abnormal function when expressed in vitro."Diabetologia 39:1233-1236(1996) [PubMed] [Europe PMC] [Abstract]
  13. "Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM."Diabetes 46:502-507(1997) [PubMed] [Europe PMC] [Abstract]
  14. "Molecular biology of adenosine triphosphate-sensitive potassium channels."Endocr. Rev. 20:101-135(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis."Nat. Genet. 22:239-247(1999) [PubMed] [Europe PMC] [Abstract]
  16. "Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism."J. Clin. Endocrinol. Metab. 87:4502-4507(2002) [PubMed] [Europe PMC] [Abstract]
  17. "Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy."Diabetes 53:2713-2718(2004) [PubMed] [Europe PMC] [Abstract]
  18. "Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients."Diabetes 53:2719-2722(2004) [PubMed] [Europe PMC] [Abstract]
  19. "Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel."J. Clin. Endocrinol. Metab. 89:3932-3935(2004) [PubMed] [Europe PMC] [Abstract]
  20. "Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity." J. Clin. Endocrinol. Metab. 89:6224-6234(2004) [PubMed] [Europe PMC] [Abstract]
  21. "Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes." N. Engl. J. Med. 350:1838-1849(2004) [PubMed] [Europe PMC] [Abstract]
  22. Erratum N. Engl. J. Med. 351:1470-1470(2004)
  23. "Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features."Proc. Natl. Acad. Sci. U.S.A. 101:17539-17544(2004) [PubMed] [Europe PMC] [Abstract]
  24. "Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy."Clin. Endocrinol. (Oxf.) 62:458-465(2005) [PubMed] [Europe PMC] [Abstract]
  25. "Relapsing diabetes can result from moderately activating mutations in KCNJ11."Hum. Mol. Genet. 14:925-934(2005) [PubMed] [Europe PMC] [Abstract]
  26. "KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes."Hum. Mutat. 25:22-27(2005) [PubMed] [Europe PMC] [Abstract]
  27. "Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes."J. Clin. Endocrinol. Metab. 90:789-794(2005) [PubMed] [Europe PMC] [Abstract]
  28. "The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus."J. Clin. Endocrinol. Metab. 90:3174-3178(2005) [PubMed] [Europe PMC] [Abstract]
  29. "Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function."J. Clin. Endocrinol. Metab. 90:5401-5406(2005) [PubMed] [Europe PMC] [Abstract]
  30. "Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects."Diabetes 55:1705-1712(2006) [PubMed] [Europe PMC] [Abstract]
  31. "Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype."Diabetologia 49:1190-1197(2006) [PubMed] [Europe PMC] [Abstract]
  32. "Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)."Hum. Mutat. 27:214-214(2006) [PubMed] [Europe PMC] [Abstract]
  33. "A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels."J. Biol. Chem. 281:3006-3012(2006) [PubMed] [Europe PMC] [Abstract]
  34. "Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism."Mod. Pathol. 19:122-129(2006) [PubMed] [Europe PMC] [Abstract]
  35. "Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers."J. Clin. Endocrinol. Metab. 92:1276-1282(2007) [PubMed] [Europe PMC] [Abstract]