Gene: KCNJ5

Alternate names for this Gene: CIR|GIRK4|KATP1|KIR3.4|LQT13

Gene Summary: This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas.

Gene is located in Chromosome: 11

Location in Chromosome : 11q24.3

Description of this Gene: potassium inwardly rectifying channel subfamily J member 5

Type of Gene: protein-coding

rs199830292 in KCNJ5 gene and Andersen Syndrome PMID 24574546 2014 A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.

rs75190942 in KCNJ5 gene and Atrial Fibrillation PMID 28416818 2017 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs387906778 in KCNJ5 gene and HYPERALDOSTERONISM, FAMILIAL, TYPE III PMID 22628607 2012 A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.

PMID 21311022 2011 K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

PMID 27099398 2016 Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production.

PMID 24037882 2013 a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.

PMID 22848660 2012 Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

PMID 22203740 2012 KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.

PMID 22315453 2012 Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.

PMID 22275527 2012 Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.

PMID 22308486 2012 Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

rs199830292 in KCNJ5 gene and LONG QT SYNDROME 13 PMID 20560207 2010 Identification of a Kir3.4 mutation in congenital long QT syndrome.

rs75190942 in KCNJ5 gene and RESTING HEART RATE PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.