Property Summary

NCBI Gene PubMed Count 91
Grant Count 60
R01 Count 34
Funding $4,817,082.32
PubMed Score 186.64
PubTator Score 155.34

Knowledge Summary

Patent (24,291)

Expression

Synonym

Accession P48544 B2R744 Q6DK13 Q6DK14 Q92807 GIRK-4
Symbols CIR
GIRK4
KATP1
LQT13
KIR3.4

Gene

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)

PMID Text
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.
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AA Sequence

MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQET      1 - 70
YRYLSDLFTTLVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAF     71 - 140
LFSIETETTIGYGFRVITEKCPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISM    141 - 210
RDEKLCLMFRVGDLRNSHIVEASIRAKLIKSRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEI    211 - 280
NQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARSSYMDTEVLWGHRFTPVLTLEKGFYEVDYNT    281 - 350
FHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQNEEDEPKGLGGSREARGSV     351 - 419
//

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.
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