KCNJ5

Official Full Name

potassium inwardly rectifying channel subfamily J member 5

Organism

Homo sapiens

Gene ID

3762

Background

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. [provided by RefSeq, Aug 2017]

Synonyms

CIR; GIRK4; KATP1; LQT13; KIR3.4

Cat.No.	Product Name	Price
CSC-RI0119	Human KCNJ3/KCNJ5 Stable Cell Line-HEK293	Inquiry
CSC-DC007971	Panoply™ Human KCNJ5 Knockdown Stable Cell Line	Inquiry
CSC-SC007971	Panoply™ Human KCNJ5 Over-expressing Stable Cell Line	Inquiry

Cat.No.	Product Name	Price
AD08428Z	Human KCNJ5 adenoviral particles	Inquiry

Cat.No.	Product Name	Price
SHL191451	shRNA set against Rat Kcnj5(NM_017297.2)	Inquiry
SHG169957	shRNA set against Human KCNJ5(NM_000890.3)	Inquiry
SHH323315	shRNA set against Mouse KCNJ5 (NM_010605.4)	Inquiry
SHH323319	shRNA set against Rat KCNJ5 (NM_017297.2)	Inquiry
SHL191420	shRNA set against Mouse Kcnj5(NM_010605.4)	Inquiry

Cat.No.	Product Name	Price
CDCB186403	Rabbit KCNJ5 ORF clone (XM_002708453.2)	Inquiry
CDCL123105	Mouse Kcnj5 ORF clone (NM_010605.4)	Inquiry
CDFH009654	Human KCNJ5 cDNA Clone(NM_000890.3)	Inquiry
CDFL006453	Mouse Kcnj5 cDNA Clone(NM_010605.4)	Inquiry
CDFR011344	Rat Kcnj5 cDNA Clone(NM_017297.2)	Inquiry
MiUTR1H-05139	KCNJ5 miRNA 3'UTR clone	Inquiry
MiUTR1M-06239	KCNJ5 miRNA 3'UTR clone	Inquiry
MiUTR1R-02825	KCNJ5 miRNA 3'UTR clone	Inquiry
CDCR047344	Human KCNJ5 ORF clone (NM_000890.3)	Inquiry
CDCR378398	Rat Kcnj5 ORF Clone(NM_017297.2)	Inquiry
CDCS405976	Human KCNJ5 ORF Clone (BC069482)	Inquiry
CDCS418812	Human KCNJ5 ORF Clone (BC015040)	Inquiry

Detailed Information

Recent Research

KCNJ5 gene, encodes GIRK4 (cytogenetic location: 11q24.3). GIRK4 is a member of the family of G protein-activated inwardly-rectifying potassium channels. GIRK4 contains the pore domain signature sequence GlyTyrGly that is conserved in K⁺selective channels. The channel is expressed at the plasma membrane in various different tissues, including the heart, peripheral and central neurons, various endocrine tissues, as well as non-excitable structures, such as blood platelets, and exists both as a homotetramer and as a hetero tetrameric complex with GIRK1. GIRK channels form transmembrane permeation pathways or pores with a high selectivity for K⁺ thereby preferentially allowing K⁺ to flow into the cell.

Some reports have shown that somatic mutations of KCNJ5 affect the function of the GIRK4 channel, The adenoma-associated gain-of-function mutations of KCNJ5 are localized in or close to the ion selectivity filter and confer a pathological Na⁺ and Ca2⁺ permeability to the mutated channels. Activity of the mutated KCNJ5 leads to influx of cations, thereby, to membrane depolarization. The depolarization results in activation of voltage-gated Ca2⁺ channels. The increased cytosolic Ca2⁺ activity ultimately promotes aldosterone secretion and adenoma formation.

Mutations of the KCNJ5 K⁺ channel gene have been identified as causative of familial and sporadic forms of primary aldosteronism (PA) and Aldosterone-producing adenoma (APA) in humans. PA is the most common form of secondary hypertension, with a prevalence of 5% to 15% among hypertensive patients and is characterized by the autonomous hypersecretion of aldosterone. Somatic APA mutations in the KCNJ5 gene were first identified by Choi et al. The cortisol production pathway is down-regulated in KCNJ5-mutated APA tissue, resulting in highly autonomous aldosterone production. Subsequently, Boulkroun et al determined a 34% prevalence of KCNJ5 mutations in a large European cohort of 380 APA. In patients with APA, the KCNJ5 mutations are remarkably more prevalent in female than in male individuals (>70%) and the mutation carriers are significantly younger compared with noncarriers.

References:

Williams T A, et al. KCNJ5 Mutations: Sex, Salt and Selection. Hormone & Metabolic Research, 2015, 47(13):953-958.
Kitamoto T, et al. Comparison of cardiovascular complications in patients with and without KCNJ5 gene mutations harboring aldosterone-producing adenomas. Journal of Atherosclerosis & Thrombosis, 2015, 22(2):191-200.
Tauber P, et al. Pharmacology and Pathophysiology of Mutated KCNJ5 Found in Adrenal Aldosterone-Producing Adenomas. Endocrinology, 2014, 155(4):1353-1362.

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