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Potassium inwardly-rectifying channel, subfamily J, member 11

Kir6.2, KCNJ11, BIR
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] (from NCBI)
Top mentioned proteins: Insulin, CAN, HAD, AGE, CagA
Papers on Kir6.2
Clinical, genetic characteristics, management and long-term follow up of Turkish patients with congenital hyperinsulinism.
New
Flanagan et al., In J Clin Res Pediatr Endocrinol, Jan 2016
Other mutations included a paternally inherited KCNJ11 mutation, a homozygous HADH mutation and heterozygous GLUD1 mutation.
Impairment of biliverdin reductase-A promotes brain insulin resistance in Alzheimer disease: A new paradigm.
New
Perluigi et al., Roma, Italy. In Free Radic Biol Med, Jan 2016
However, the mechanisms responsible for the onset of brain insulin resistance (BIR) need further elucidations.
A functional circadian clock is required for proper insulin secretion by human pancreatic islet cells.
New
Dibner et al., Genève, Switzerland. In Diabetes Obes Metab, Jan 2016
Among them, key regulators of the insulin secretion pathway (GNAQ, ATP1A1, ATP5G2, KCNJ11) and transcripts required for granule maturation and release (VAMP3, STX6, SLC30A8) were affected.
Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.
New
Zhou et al., Shanghai, China. In Mol Genet Genomic Med, Nov 2015
Extensive mutational analysis (ABCC8,KCNJ11,GCK,GLUD1,HADH,HNF4A, and UCP2) was performed on Ion torrent platform, which could analyze hundreds of genes simultaneously with ultrahigh-multiplex PCR using up to 6144 primer pairs in a single primer pool and address time-sensitive samples with single-day assays, from samples to annotated variants, to identify the genetic etiology of this disease.
Pharmacogenetics and individual responses to treatment of hyperglycemia in type 2 diabetes.
Review
New
Vestergaard et al., Copenhagen, Denmark. In Pharmacogenet Genomics, Oct 2015
Some are present in drug receptors or drug metabolizers (OCT genes, KCNJ11, ABCC8, and CYP2C9).
The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia.
Review
New
Hussain et al., London, United Kingdom. In J Clin Res Pediatr Endocrinol, Jun 2015
Recent advances in genetics have linked CHI to mutations in 9 genes that play a key role in regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A and HNF1A).
The UBC Domain Is Required for BRUCE to Promote BRIT1/MCPH1 Function in DSB Signaling and Repair Post Formation of BRUCE-USP8-BRIT1 Complex.
Du et al., Cincinnati, United States. In Plos One, 2014
BRUCE contains UBC and BIR domains, but neither is required for the scaffolding function of BRUCE mentioned above.
KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus.
Review
Haerian et al., Kuala Lumpur, Malaysia. In J Diabetes Res, 2014
Kir6.2 is encoded by the potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) gene, a member of the potassium channel genes.
Pharmacogenomics of Drug Response in Type 2 Diabetes: Toward the Definition of Tailored Therapies?
Review
Ciccodicola et al., Napoli, Italy. In Ppar Res, 2014
Here, we review the relationship between drug responsiveness and polymorphisms in genes involved in drug metabolism (CYP2C9) and insulin signaling (ABCC8, KCNJ11, and PPARG).
Association between Genetic Variants and Diabetes Mellitus in Iranian Populations: A Systematic Review of Observational Studies.
Review
Amoli et al., Tehrān, Iran. In J Diabetes Res, 2014
We found significant association between CTLA-4, IL-18, VDR, TAP2, IL-12, and CD4 genes and T1DM, HNFα and MODY, haptoglobin, paraoxonase, leptin, TCF7L2, calreticulin, ERα, PPAR-γ2, CXCL5, calpain-10, IRS-1 and 2, GSTM1, KCNJ11, eNOS, VDR, INSR, ACE, apoA-I, apo E, adiponectin, PTPN1, CETP, AT1R, resistin, MMP-3, BChE K, AT2R, SUMO4, IL-10, VEGF, MTHFR, and GSTM1 with T2DM or its complications.
Pif1 helicase and Polδ promote recombination-coupled DNA synthesis via bubble migration.
Impact
Ira et al., Houston, United States. In Nature, 2013
A good candidate DNA helicase is Pif1, an evolutionarily conserved helicase in Saccharomyces cerevisiae important for break-induced replication (BIR) as well as HR-dependent telomere maintenance in the absence of telomerase found in 10-15% of all cancers.
Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes.
GeneRIF
Flanagan et al., Exeter, United Kingdom. In Eur J Endocrinol, 2012
Kir6.2 mutations that affect residues harboring various amino acid substitutions are found in neonatal diabetes.
Blockade of ATP-sensitive potassium channels prevents the attenuation of the exercise pressor reflex by tempol in rats with ligated femoral arteries.
GeneRIF
Kaufman et al., United States. In Am J Physiol Heart Circ Physiol, 2012
Tempol attenuates the exercise pressor reflex in rats with ligated femoral arteries via effects on K(ATP) channels.
E23K polymorphism of the KCNJ11 gene in Korean children with type 1 diabetes.
GeneRIF
Hwang et al., Seoul, South Korea. In World J Pediatr, 2012
Although a rather small sample size constituted a limitation of this study, the association of the E23K polymorphism with type 1 diabetes was not statistically significant in the Korean population evaluated
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
GeneRIF
Froguel et al., Lille, France. In Plos One, 2011
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.
GeneRIF
Sampaio et al., Lisbon, Portugal. In J Pediatr Endocrinol Metab, 2011
KCNJ11 mutation is associated with permanent neonatal diabetes mellitus.
Antagonists induce a conformational change in cIAP1 that promotes autoubiquitination.
Impact
Fairbrother et al., San Francisco, United States. In Science, 2011
Binding of endogenous or small-molecule antagonists to select baculovirus IAP repeat (BIR) domains within cellular IAP (cIAP) proteins promotes autoubiquitination and proteasomal degradation and so releases inhibition of apoptosis mediated by cIAP.
The NLRC4 inflammasome receptors for bacterial flagellin and type III secretion apparatus.
Impact
Shao et al., Beijing, China. In Nature, 2011
Here we show that NAIP5, a BIR-domain NLR protein required for Legionella pneumophila replication in mouse macrophages, is a universal component of the flagellin-NLRC4 pathway.
Survivin reads phosphorylated histone H3 threonine 3 to activate the mitotic kinase Aurora B.
Impact
Funabiki et al., New York City, United States. In Science, 2010
Here, we demonstrate that histone H3 phosphorylated at threonine 3 is directly recognized by an evolutionarily conserved binding pocket in the BIR domain of Survivin, which is a member of the chromosomal passenger complex (CPC).
Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin.
Impact
GeneRIF
Ashcroft et al., Oxford, United Kingdom. In Science, 2010
in mice with human Kir6.2 mutation targeted to either muscle or nerve, data show motor impairment originates in central nervous system rather than muscle or peripheral nerves;identifed motor hyperactivity as a feature of KATP channel overactivity
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