Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Potassium inwardly-rectifying channel, subfamily J, member 5

The KCNJ5 gene encodes a ubiquitus potassium channel, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Of crucial physiological importance is its presence in the zona glomerulosa of the adrenal cortex and in heart muscel cells. In the adrenal cortex, it controls aldosterone secretion in relation to the extracellular potassium concentration. In the heart it is involved in the pacemaker function. Somatic mutations are frequently found in aldosterone secreting tumors. Germline mutations may cause primary hyperaldosteronism type 3 and long QT syndrome type 13.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyperaldosteronism type 3
KCNJ5
Long QT syndrome 13
KCNJ5
Conn syndrome
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5

References:

1.

He C et al. (2002) Identification of critical residues controlling G protein-gated inwardly rectifying K(+) channel activity through interactions with the beta gamma subunits of G proteins.

external link
2.

Kennedy ME et al. (1999) GIRK4 confers appropriate processing and cell surface localization to G-protein-gated potassium channels.

external link
3.

Corey S et al. (1998) Identification of native atrial G-protein-regulated inwardly rectifying K+ (GIRK4) channel homomultimers.

external link
4.

Ji S et al. (1998) Mechanosensitivity of the cardiac muscarinic potassium channel. A novel property conferred by Kir3.4 subunit.

external link
5.

Wickman K et al. (1997) Partial structure, chromosome localization, and expression of the mouse Girk4 gene.

external link
6.

Ashford ML et al. (1994) Cloning and functional expression of a rat heart KATP channel.

external link
7.

Krapivinsky G et al. (1995) The G-protein-gated atrial K+ channel IKACh is a heteromultimer of two inwardly rectifying K(+)-channel proteins.

external link
8.

Bond CT et al. (1994) Cloning and expression of a family of inward rectifier potassium channels.

external link
9.

Tucker SJ et al. (1995) Assignment of KATP-1, the cardiac ATP-sensitive potassium channel gene (KCNJ5), to human chromosome 11q24.

external link
10.

None (2013) Primary aldosteronism and potassium channel mutations.

external link
11.

Li NF et al. (2013) Genetic variations in the KCNJ5 gene in primary aldosteronism patients from Xinjiang, China.

external link
12.

Boulkroun S et al. (2013) KCNJ5 mutations in aldosterone producing adenoma and relationship with adrenal cortex remodeling.

external link
13.

Scholl UI et al. (2013) New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5.

external link
14.

Mulatero P et al. (2013) Role of KCNJ5 in familial and sporadic primary aldosteronism.

external link
15.

Kang YA et al. (2012) Advances in research on G protein-coupled inward rectifier K(+) channel gene.

external link
16.

Yamada M et al. (2012) KCNJ5 mutations in aldosterone- and cortisol-co-secreting adrenal adenomas.

external link
17.

Åkerström T et al. (2012) Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

external link
18.

Zennaro MC et al. (2012) Integrating genetics and genomics in primary aldosteronism.

external link
19.

Bar-Lev A et al. (2012) Genetics of adrenocortical disease: an update.

external link
20.

Xekouki P et al. (2012) KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.

external link
21.

Choi M et al. (2011) K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

external link
22.

Yang Y et al. (2010) Identification of a Kir3.4 mutation in congenital long QT syndrome.

external link
23.

Geller DS et al. (2008) A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.

external link
24.

Perry CA et al. (2008) Predisposition to late-onset obesity in GIRK4 knockout mice.

external link
25.

OMIM.ORG article

Omim 600734 external link
26.

NCBI article

NCBI 3762 external link
27.

Orphanet article

Orphanet ID 235181 external link
28.

Wikipedia article

Wikipedia EN (KCNJ5) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits