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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.

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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9.

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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10.

None (2013) Primary aldosteronism and potassium channel mutations.

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11.

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

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12.

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

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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.

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

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15.

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

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16.

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

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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.

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18.

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

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19.

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

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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.

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21.

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

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22.

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

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23.

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

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24.

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

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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
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