Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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

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2.

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.

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3.

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

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4.

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

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5.

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

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6.

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.

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

None (2013) Primary aldosteronism and potassium channel mutations.

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

OMIM.ORG article

Omim 600734 [^]
26.

NCBI article

NCBI 3762 [^]
27.

Orphanet article

Orphanet ID 235181 [^]
28.

Wikipedia article

Wikipedia EN (KCNJ5) [^]
Update: April 29, 2019