Property Summary

NCBI Gene PubMed Count 91
PubMed Score 186.64
PubTator Score 155.34

Knowledge Summary

Patent (24,291)


Protein-protein Interaction (13)

MLP Assay (10)

AID Type Active / Inconclusive / Inactive Description
686924 other 0 / 0 / 1 ML347 Eurofin Panel Assay for BMP Inhibitor (Probe Compound)
686925 other 0 / 0 / 1 ML352 Eurofin Panel Assay for Choline Transporter Inhibitor (Probe Compound)
686926 other 0 / 0 / 1 ML354 Eurofin Panel Assay for PAR4 Antagonists Inhibitor (Probe Compound)
686927 other 0 / 0 / 1 ML353 Eurofin Panel Assay for mGlu5 SAM Inhibitor (Probe Compound)
743249 screening 1 / 0 / 0 Development of the First Potent, Selective and CNS penetrant M5 Negative Allosteric Modulator (NAM)
743250 screening 1 / 0 / 0 Discovery and characterization of a small molecule allosteric agonists of mas-related G-Protein coupled receptor X1 ( MrgX1)
743251 screening 1 / 0 / 0 Development of a novel orthosteric Muscarinic 5 (M5) antagonist possessing a hig degree of muscarinic subtype selectivity
743252 screening 1 / 0 / 0 Development of the first CNS penetrant Muscarinic 5 (M5) Positive Allosteric Modulator based on a novel non-isatin core
743435 other 0 / 0 / 0 Development of inhibitors for Dopamine D4 Receptors: Eurofin Panel Assay Results
743437 other 0 / 0 / 0 Development of inhibitors for PLD2 (Eurofin Panel Assay Results)

Gene RIF (73)

26807823 The present study demonstrated the high prevalence of somatic KCNJ5 mutations in Korean patients with aldosterone-secreting adenoma. Carriers of somatic KCNJ5 mutations were more likely to be female.
26566104 KCNJ5 mutations in aldosterone-producing adenomas are more frequent in women; however, this gender dimorphism is a reported phenomenon of Western but not East Asian populations (review).
26351028 Different mutations (KCNJ5, ATP1A1, ATP2B3, and CACNA1D) are found in different aldosterone-producing nodules from the same adrenal, suggesting that somatic mutations are independent events triggered by mechanisms that remain to be identified.
26340408 This study confirms the frequency of somatic KCNJ5 mutations in aldosterone production by adenomas.
26066531 Meta-analysis showed that more pronounced hyperaldosteronism, young age, female gender, and larger tumors are the phenotypic features of APA patients with KCNJ5 mutations.[meta-analysis; review]
26059367 Serum adiponectin level was an independent predictor of early atherosclerosis in smokers. Nicotine might decrease adiponectin in part through altering KATP channels in adipocytes.
25998841 In aldosterone-producing cells of an in vitro model of hyperaldosteronism GIRK4 does not form functional channels.
25906099 KCNJ5-mutated patients benefit more from surgical resection of ALDOSTERONE-PRODUCING ADENOMA than nonmutated patients
25636093 Missense mutations of KCNJ5 gene may be associated with unilateral adrenal hyperplasia (UAH).
25617716 GIRK4 immunohistochemistry might be used for initial screening of the somatic mutation status of aldosterone producing adenoma.
25417227 Congenital long QT syndrome: a case report of LQT2 and LQT13 in a neonate.
25347571 Besides Na(+)-leak mutations, novel KCNJ5 mutations causing a reduction of surface and total abundance of Kir3.4 are also associated with sporadic aldosterone-producing adenoma.
25253161 KCNJ5 gene mutations are associated with aldosterone-producing adenomas.
25057880 A novel KCNJ5 channelopathy located after the pore alpha-helix preceding the selectivity filter causes constitutive secretion of aldosterone with ensuing resistant hypertension in a patient with a small adenoma.
24866132 Patients with aldosterone-producing adenomas that had KCNJ5 mutations were more frequently female, diagnosed younger, and with higher minimal plasma potassium concentrations compared with CACNA1D mutation carriers or noncarriers.
24840790 Biased transmission of the same haplotypes for TS and ADHD was identified in independent samples, supporting this gene as a possible susceptibility locus for both disorders.
24819081 Diverse clinical severity in FH-III cannot be defined solely by KCNJ5 genotype.
24759126 Compared to wild-type aldosterone-producing adenoma patients, those with KCNJ5 mutations showed more prominent cardiovascular damage.
24711039 Rs3740835(C/A) polymorphism may be associated with unilateral primary aldosteronism(PA) not with bilateral PA.
24574546 KCNJ5 is a second gene causing Andersen-Tawil syndrome: the inhibitory effects of mutant Kir3.4 on inwardly rectifying potassium channels may account for the clinical presentation in both skeletal and heart muscles.
24510572 The rs11221497 SNP of the GIRK4 gene is associated with essential hypertension.
24506072 Overexpression of mutant KCNJ5 in adrenocortical NCI-H295R cells increased intracellular Ca2+ at resting conditions and impaired Ca2+ export by Na+/Ca2+ exchangers.
24420545 Germline variation in the KCNJ5 gene has a role to play in the common sporadic form as well as the much rarer syndromic forms of primary aldosteronism.
24274318 Findings in a large Australian cohort show that patients with mutations in KCNJ5 present earlier with the signs and symptoms of primary hyperaldosteronism and benefit from surgical intervention.
24179102 Somatic mutations found in KCNJ5, ATP1A1, and ATP2B3 appear to be the driving forces for a higher aldosterone production and proliferations of glomerulosa cells.
24148898 heterogeneously expressed across human ventricular wall
24082052 KCNJ5 mutations are present in aldosterone producing adenomas that result in an increase in CYP11B2 gene expression and may account for the dysregulated aldosterone production in a subset of patients with sporadic primary aldosteronism.
24037882 We describe a new germline mutation in KCNJ5 responsible for familial hyperaldosteronism-III.
23872692 data suggest that QTpeak intervals and T-wave morphology combination score may be the better parameters than the corrected QT interval to predict the phenotype-genotype relationship in patients with type 13 long QT syndrome with mutation in KCNJ5.
23829355 Kir3.4 potassium channel is expressed in the zona glomerulosa cell membrane and regulates aldosterone biosynthesis[review].
23778974 KCNJ5 mutations are associated with better surgical outcome in patients diagnosed with adrenal gland neoplasms.
23383108 A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5) in peptide-treated PBMCs
23382865 The genetic variant rs2604204 of KCNJ5 is associated with sporadic PA in Chinese males, suggesting that KCNJ5 may be involved in the pathogenesis of sporadic PA in these particular patients
23376008 KCNJ5 mutations are not correlated with adrenal cortex remodeling in aldosterone producing adenoma
23318698 new insight into the pathogenesis of aldosterone-producing adenomas (APAs) and inherited primary aldosteronism; the role of mutations in the potassium channel KCNJ5 in these disorders (Review)
23229280 Mutations in the KCNJ5 gene, which encodes the GIRK4 K+ channel, have been shown to be responsible for familial hyperaldosteronism type III and a consistent proportion of sporadic aldosterone-producing adenomas. [Review]
23225057 GIRK4 gene polymorphisms may be associated with IR in Uygur ethnics from Xinjiang. The CC genotype of rs11221497 variant is a risk factor for insulin resistance.
23012392 Aldosterone-producing adenoma patients with the somatic KCNJ5 mutations showed a higher production of aldosterone than those without such mutations, which translates in a higher lateralization index.
22863749 findings suggested that at least some aldosterone- and cortisol-co-secreting adrenal tumors have mutations of the KCNJ5 gene, suggesting the origin to be adrenal aldosterone-producing adenoma(APA), and pure APAs may show a high incidence of KCNJ5 mutations
22848660 Either of two somatic KCNJ5 mutations are highly prevalent and specific for aldosterone producing lesions
22798349 A-II appears to stimulate aldosterone secretion by depolarizing the membrane acting in part through the regulation of the expression and activity of Kir3.4.
22743686 novel KCNJ5 mutation behaves like the three selectivity filter mutations previously reported in APAs depolarizing the cell and showing reduced cation selectivity
22701748 Hyaluronan export through plasma membranes depends on concurrent K+ efflux by K(ir) channels.
22645387 An investigation into the GIRK4 genotypes revealed that each of the four common polymorphisms examined (rs2604204, rs4937391, rs6590367 and rs11221497) are significantly associated with metabolic syndrome in the Uygurian population,and this association may be influenced by age.
22628608 KCNJ5 mutations are prevalent in aldosterone producing adenomas (APA).
22628607 Sequencing of the KCNJ5 gene revealed a single, heterozygous guanine to thymine (G --> T) substitution at nucleotide position 470 (n.G470T), resulting in isoleucine (I) to serine (S) substitution at amino acid 157 (p.I157S).
22442279 KCNJ5 mutations are common in aldosterone-producing adenomas, particularly those arising from zona fasiculata. The long-recognized heterogeneity among aldosterone-producing adenomas may have a genetic basis.
22323562 Two somatic KCNJ5 mutations were identified in 16 human aldosterone producing adenomas, one of them is novel; both mutations result in a depolarization of current reversal potential and loss of channel selectivity
22315453 Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.
22308486 findings demonstrate variations in phenotypes and clinical outcome resulting from different mutations of the same amino acid in KCNJ5 and have implications for diagnosis and pathogenesis of primary aldosteronism with and without adrenal hyperplasia
22278422 Data suggest that significant number of patients with aldosterone-producing adenoma (APA) have KCNJ5 mutations; KCNJ5 mRNA level is higher in APA with mutation; KCNJ5 mRNA level is higher in APA than in cortisol-producing adenoma/pheochromocytoma.
22275527 younger age and higher aldosterone levels at diagnosis suggest that KCNJ5 mutations may be associated with a more florid phenotype of primary aldosteronism.
22252394 somatic KCNJ5 mutations are not restricted to large APAs (>2 cm), and their frequency in our unselected series suggests they are common and could be important in the molecular pathogenesis of many sporadic cases of APA.
22203740 A new mutation in the KCNJ5 potassium channel is associated with familial hyperaldosteronism-III and is responsible for marked alterations of channel function. And it associated with a mild clinical and hormonal phenotype.
21659651 Mutations in KCNJ5 gene cause hyperaldosteronism
21637918 This study is the first to identify the expression of GIRK2-4 subunits in human esophageal smooth muscle cells.
21586291 The activation of atrial and ventricular K(ATP) channels enhances arrhythmogenicity, suggesting that such activation may contribute to reentrant arrhythmias in ischemic hearts.
21555883 Both genotype distribution and allele frequencies of the SNPs rs6590357 and rs7118824 in KCNJ5 significantly differed between the early-onset lone atrial fibrillation patients and control group.
21311022 identified 2 somatic mutations in and near selectivity filter of KCNJ5 channel in aldosterone-producing adrenal adenomas and an inherited KCNJ5 mutation producing increased Na(+) conductance in Mendelian form of aldosteronism and adrenal hyperplasia
20560207 Our findings suggest a role for Kir3.4 in the etiology of LQTS.
20110696 We identified several known single nucleotide polymorphisms in KCNJ3 and KCNJ5, but no mutations in either of the genes.
20110696 Observational study of gene-disease association. (HuGE Navigator)
19805912 loss of KATP channel activity may protect against streptozotocin-induced diabetes in vivo
19208499 the frequency of genotype and allele in the C171T and G810T polymorphisms of Kir3.4 (K+ channel potassium inwardly-rectifier) are significantly different between lone paroxysmal Atrial fibrillation patients than in control subjects
19208499 Observational study of gene-disease association. (HuGE Navigator)
19135528 Sar 1 H79G and Rab 1 S25N mutants efficiently blocked the plasma membrane trafficking of the Kir3.1/Kir3.4 complex.
18976975 Knockdown of potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication
18289755 No genetic association between polymorphisms in the kainate-type glutamate receptor gene, GRIK4, and schizophrenia in the Chinese population.
18239147 review the structure and function of ABC proteins and discuss SUR, its regulation of the K(ATP) channel, and its role in cardiovascular disease.
17967416 This may explain the lack of clear clinical manifestations and further studies are necessary to elucidate if mutations in Kir3.4 are predisposing AF.
16109170 GIRK1 and GIRK2 channels, but not GIRK3 or GIRK4, may may activate signaling pathways in development of lung cancer
15694835 K(ATP) channels have important functions including homeostasis maintenance and vascular tone regulation under physiological conditions
15142872 GIRK channels are important functional effectors of the P2Y(12) receptor in human platelets.

AA Sequence


Text Mined References (93)

PMID Year Title
26807823 2016 Genetics of Aldosterone-Producing Adenoma in Korean Patients.
26566104 2015 KCNJ5 Mutations: Sex, Salt and Selection.
26351028 2015 Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma.
26340408 2015 Novel Insertion Mutation in KCNJ5 Channel Produces Constitutive Aldosterone Release From H295R Cells.
26066531 2015 A Meta-Analysis of Somatic KCNJ5 K(+) Channel Mutations In 1636 Patients With an Aldosterone-Producing Adenoma.
26059367 Adiponectin may be a biomarker of early atherosclerosis of smokers and decreased by nicotine through KATP channel in adipocytes.
25998841 2015 NCI-H295R cell line as in vitro model of hyperaldosteronism lacks functional KCNJ5 (GIRK4; Kir3.4) channels.
25906099 2015 Prevalence and characterization of somatic mutations in Chinese aldosterone-producing adenoma patients.
25636093 2015 [Sequence analysis of coding regions of KCNJ5 gene in unilateral adrenal hyperplasia].
25617716 2015 Functional histopathological markers of aldosterone producing adenoma and somatic KCNJ5 mutations.
25417227 2014 Congenital long QT syndrome: a case report of LQT2 and LQT13 in a neonate.
25347571 2015 Novel KCNJ5 mutations in sporadic aldosterone-producing adenoma reduce Kir3.4 membrane abundance.
25253161 2015 Comparison of cardiovascular complications in patients with and without KCNJ5 gene mutations harboring aldosterone-producing adenomas.
25057880 2014 A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.
24866132 2014 Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.
24840790 2014 Association of the KCNJ5 gene with Tourette Syndrome and Attention-Deficit/Hyperactivity Disorder.
24819081 2014 Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature.
24759126 2014 KCNJ5 gene somatic mutations affect cardiac remodelling but do not preclude cure of high blood pressure and regression of left ventricular hypertrophy in primary aldosteronism.
24711039 2014 [Association of KCNJ5 gene rs3740835(C/A) and rs2604204(A/C) polymorphism with unilateral and bilateral primary aldosteronism].
24574546 2014 A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.
24510572 2014 [Association of GIRK4 gene polymorphisms with essential hypertension in obese ethnics Uygur from southern Xinjiang].
24506072 2014 Pharmacology and pathophysiology of mutated KCNJ5 found in adrenal aldosterone-producing adenomas.
24420545 2014 Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.
24274318 2015 Mutations in KCNJ5 determines presentation and likelihood of cure in primary hyperaldosteronism.
24179102 2014 Complementary somatic mutations of KCNJ5, ATP1A1, and ATP2B3 in sporadic aldosterone producing adrenal adenomas.
24148898 2014 G-protein-coupled inward rectifier potassium current contributes to ventricular repolarization.
24082052 2014 Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.
24037882 2013 a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
23872692 2013 The phenotype characteristics of type 13 long QT syndrome with mutation in KCNJ5 (Kir3.4-G387R).
23829355 2013 Regulation of aldosterone biosynthesis by the Kir3.4 (KCNJ5) potassium channel.
23778974 2013 Outcome after surgery for primary hyperaldosteronism may depend on KCNJ5 tumor mutation status: a population-based study from Western Norway.
23382865 2013 Genetic variations in the KCNJ5 gene in primary aldosteronism patients from Xinjiang, China.
23376008 2013 KCNJ5 mutations in aldosterone producing adenoma and relationship with adrenal cortex remodeling.
23318698 2013 New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5.
23229280 2013 Role of KCNJ5 in familial and sporadic primary aldosteronism.
23225057 2012 [Association between GIRK4 gene polymorphisms and insulin resistance in Xinjiang Uygur population].
23012392 2012 Somatic mutations in the KCNJ5 gene raise the lateralization index: implications for the diagnosis of primary aldosteronism by adrenal vein sampling.
22863749 2012 KCNJ5 mutations in aldosterone- and cortisol-co-secreting adrenal adenomas.
22848660 2012 Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.
22798349 2012 The potassium channel, Kir3.4 participates in angiotensin II-stimulated aldosterone production by a human adrenocortical cell line.
22743686 2012 Characterization of a novel somatic KCNJ5 mutation delI157 in an aldosterone-producing adenoma.
22701748 2012 Hyaluronan export through plasma membranes depends on concurrent K+ efflux by K(ir) channels.
22645387 2012 Influence of age on the association of GIRK4 with metabolic syndrome.
22628608 2012 Effect of KCNJ5 mutations on gene expression in aldosterone-producing adenomas and adrenocortical cells.
22628607 2012 A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.
22442279 2012 Microarray, qPCR, and KCNJ5 sequencing of aldosterone-producing adenomas reveal differences in genotype and phenotype between zona glomerulosa- and zona fasciculata-like tumors.
22323562 2012 KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.
22315453 2012 Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.
22308486 2012 Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.
22278422 2012 Expression and mutations of KCNJ5 mRNA in Japanese patients with aldosterone-producing adenomas.
22275527 2012 Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.
22252394 2012 Somatic mutations affecting the selectivity filter of KCNJ5 are frequent in 2 large unselected collections of adrenal aldosteronomas.
22203740 2012 KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.
21659651 2011 Mutations in KCNJ5 gene cause hyperaldosteronism.
21637918 Identification of GIRK2-4 subunits in human esophageal smooth muscle cells.
21586291 2011 Effects of KATP channel openers diazoxide and pinacidil in coronary-perfused atria and ventricles from failing and non-failing human hearts.
21555883 2011 Common polymorphisms in KCNJ5 [corrected] are associated with early-onset lone atrial fibrillation in Caucasians.
21311022 2011 K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.
20560207 2010 Identification of a Kir3.4 mutation in congenital long QT syndrome.
20110696 2010 Genetic variation in the inwardly rectifying K channel subunits KCNJ3 (GIRK1) and KCNJ5 (GIRK4) in patients with sinus node dysfunction.
19805912 2009 Suppression of KATP channel activity protects murine pancreatic beta cells against oxidative stress.
19208499 2009 The single nucleotide polymorphisms of Kir3.4 gene and their correlation with lone paroxysmal atrial fibrillation in Chinese Han population.
19135528 2009 Intracellular trafficking and assembly of specific Kir3 channel/G protein complexes.
18391953 2008 Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
18289755 2008 No genetic association between polymorphisms in the kainate-type glutamate receptor gene, GRIK4, and schizophrenia in the Chinese population.
18239147 2008 The sulfonylurea receptor, an atypical ATP-binding cassette protein, and its regulation of the KATP channel.
17967416 2007 Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17185339 2007 Evidence for association of GABA(B) receptors with Kir3 channels and regulators of G protein signalling (RGS4) proteins.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16382105 2005 International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels.
16109170 2005 Expression of G-protein inwardly rectifying potassium channels (GIRKs) in lung cancer cell lines.
15694835 2005 KATP channel: relation with cell metabolism and role in the cardiovascular system.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15142872 2004 Role of G protein-gated inwardly rectifying potassium channels in P2Y12 receptor-mediated platelet functional responses.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12297500 2002 G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase.
11879649 2002 Diverse trafficking patterns due to multiple traffic motifs in G protein-activated inwardly rectifying potassium channels from brain and heart.
11741896 2002 Identification of critical residues controlling G protein-gated inwardly rectifying K(+) channel activity through interactions with the beta gamma subunits of G proteins.
10659995 1999 Co-expression of human Kir3 subunits can yield channels with different functional properties.
9891030 1999 GIRK4 confers appropriate processing and cell surface localization to G-protein-gated potassium channels.
9765280 1998 Identification of native atrial G-protein-regulated inwardly rectifying K+ (GIRK4) channel homomultimers.
9642257 1998 Gbeta binding to GIRK4 subunit is critical for G protein-gated K+ channel activation.
9245502 1997 Subunit interactions in the assembly of neuronal Kir3.0 inwardly rectifying K+ channels.
9169438 1997 Activation of the calcium-permeable cation channel CD20 by alpha subunits of the Gi protein.
9108307 1997 Binding of the G protein betagamma subunit to multiple regions of G protein-gated inward-rectifying K+ channels.
8868049 1996 A recombinant inwardly rectifying potassium channel coupled to GTP-binding proteins.
8834003 1995 Functional characterization and localization of a cardiac-type inwardly rectifying K+ channel.
8558261 1996 A G-protein-activated inwardly rectifying K+ channel (GIRK4) from human hippocampus associates with other GIRK channels.
8524415 1995 Cloning and functional expression of a rat heart KATP channel.
8047164 1994 Cloning and functional expression of a rat heart KATP channel.
7590741 1995 Assignment of KATP-1, the cardiac ATP-sensitive potassium channel gene (KCNJ5), to human chromosome 11q24.