Property Summary

NCBI Gene PubMed Count 28
PubMed Score 30.44
PubTator Score 22.08

Knowledge Summary

Patent (1,927)

Expression

 MGI Phenotype (1)

Protein-protein Interaction (1)

Gene RIF (5)

PMID Text
26663529 Variability has been found in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel approximately 1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
25339316 Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients
24193250 study provides an explanation for the pathophysiology of the p.A167V KCNJ10 mutation, which had not been considered pathogenic on its own; findings provide evidence for functional cooperation of KCNJ10 and KCNJ16; in vitro ascertainment of KCNJ10 function may necessitate co-expression with KCNJ16
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19240061 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MSYYGSSYHIINADAKYPGYPPEHIIAEKRRARRRLLHKDGSCNVYFKHIFGEWGSYVVDIFTTLVDTKW      1 - 70
RHMFVIFSLSYILSWLIFGSVFWLIAFHHGDLLNDPDITPCVDNVHSFTGAFLFSLETQTTIGYGYRCVT     71 - 140
EECSVAVLMVILQSILSCIINTFIIGAALAKMATARKRAQTIRFSYFALIGMRDGKLCLMWRIGDFRPNH    141 - 210
VVEGTVRAQLLRYTEDSEGRMTMAFKDLKLVNDQIILVTPVTIVHEIDHESPLYALDRKAVAKDNFEILV    211 - 280
TFIYTGDSTGTSHQSRSSYVPREILWGHRFNDVLEVKRKYYKVNCLQFEGSVEVYAPFCSAKQLDWKDQQ    281 - 350
LHIEKAPPVRESCTSDTKARRRSFSAVAIVSSCENPEETTTSATHEYRETPYQKALLTLNRISVESQM      351 - 418
//

Text Mined References (29)

PMID Year Title
26663529 2016 Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ?1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
25339316 2014 Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.
24561201 2014 Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.
24559202 2014 Expedient total synthesis of small to medium-sized membrane proteins via Fmoc chemistry.
24193250 2013 KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23873931 2013 Src family protein tyrosine kinase regulates the basolateral K channel in the distal convoluted tubule (DCT) by phosphorylation of KCNJ10 protein.
23704328 2013 Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
23362303 2013 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
22907060 2012 S-Glutathionylation underscores the modulation of the heteromeric Kir4.1-Kir5.1 channel in oxidative stress.
22863731 2012 Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3.
22436252 2012 An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19234473 2009 Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
18391953 2008 Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
17185339 2007 Evidence for association of GABA(B) receptors with Kir3 channels and regulators of G protein signalling (RGS4) proteins.
16382105 2005 International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
12923169 2003 Identification of a heteromeric interaction that influences the rectification, gating, and pH sensitivity of Kir4.1/Kir5.1 potassium channels.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12456399 2003 Identification of domains that control the heteromeric assembly of Kir5.1/Kir4.0 potassium channels.
11988170 2002 PSD-95 mediates formation of a functional homomeric Kir5.1 channel in the brain.
11306656 2001 Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1.
11240146 2001 Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits.
11060447 2000 The human inward rectifier K(+) channel subunit kir5.1 (KCNJ16) maps to chromosome 17q25 and is expressed in kidney and pancreas.
9882736 1999 Expression of a functional Kir4 family inward rectifier K+ channel from a gene cloned from mouse liver.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.