Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Potassium voltage-gated channel subfamily H member 2

The KCNH2 gene encodes a potassium channel that is involved in cardiac conduction. Mutations cause autosomal dominant cardiac arrhythmias such al long and short QT syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Short QT syndrome 1
KCNH2
Long QT syndrome 02
KCNH2

References:

1.

Trudeau MC et. al. (1995) HERG, a human inward rectifier in the voltage-gated potassium channel family.

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2.

Sanguinetti MC et. al. (1995) A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel.

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3.

Curran ME et. al. (1995) A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

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4.

Warmke JW et. al. (1994) A family of potassium channel genes related to eag in Drosophila and mammals.

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5.

Thomas PJ et. al. (1995) Defective protein folding as a basis of human disease.

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6.

None (1996) The inconstancy of the human heart.

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7.

Smith PL et. al. (1996) The inward rectification mechanism of the HERG cardiac potassium channel.

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8.

Benson DW et. al. (1996) Missense mutation in the pore region of HERG causes familial long QT syndrome.

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9.

Satler CA et. al. (1996) Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.

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10.

Li X et. al. (1997) The human delta1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression.

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11.

Tanaka T et. al. (1997) Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

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12.

Satler CA et. al. (1998) Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.

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13.

Itoh T et. al. (1998) Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.

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14.

Splawski I et. al. (1998) Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

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15.

Zhou Z et. al. (1998) HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects.

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16.

Zareba W et. al. (1998) Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

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17.

Priori SG et. al. (1999) Low penetrance in the long-QT syndrome: clinical impact.

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18.

Berthet M et. al. (1999) C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

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19.

Jongbloed RJ et. al. (1999) Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

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20.

Larsen LA et. al. (2000) Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.

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21.

Kagan A et. al. (2000) The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.

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22.

Splawski I et. al. (2000) Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

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23.

Nakajima T et. al. (2000) Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties.

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24.

Yoshida H et. al. (2001) Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.

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25.

Gussak I et. al. (2000) Idiopathic short QT interval: a new clinical syndrome?

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26.

Moss AJ et. al. (2002) Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.

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27.

Yang P et. al. (2002) Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

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28.

Kupershmidt S et. al. (2002) Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus.

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29.

Paulussen A et. al. (2002) A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.

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30.

Lees-Miller JP et. al. (2003) Selective knockout of mouse ERG1 B potassium channel eliminates I(Kr) in adult ventricular myocytes and elicits episodes of abrupt sinus bradycardia.

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31.

Johnson WH et. al. (2003) Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.

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32.

Ficker E et. al. (2003) Role of the cytosolic chaperones Hsp70 and Hsp90 in maturation of the cardiac potassium channel HERG.

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33.

Gaita F et. al. (2003) Short QT Syndrome: a familial cause of sudden death.

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34.

Brugada R et. al. (2004) Sudden death associated with short-QT syndrome linked to mutations in HERG.

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35.

Westenskow P et. al. (2004) Compound mutations: a common cause of severe long-QT syndrome.

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36.

Gong Q et. al. (2005) Degradation of trafficking-defective long QT syndrome type II mutant channels by the ubiquitin-proteasome pathway.

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37.

Hong K et. al. (2005) Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

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38.

Tester DJ et. al. (2005) Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

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39.

Gong Q et. al. (2006) Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

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40.

Millat G et. al. (2006) Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

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41.

Vatta M et. al. (2006) Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

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42.

Xiao J et. al. (2007) MicroRNA miR-133 represses HERG K+ channel expression contributing to QT prolongation in diabetic hearts.

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43.

Amin AS et. al. (2008) Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome.

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44.

Tenenbaum M et. al. (2008) Identification of the gene causing long QT syndrome in an Israeli family.

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45.

Huffaker SJ et. al. (2009) A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia.

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46.

Rihel J et. al. (2010) Zebrafish behavioral profiling links drugs to biological targets and rest/wake regulation.

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47.

Itzhaki I et. al. (2011) Modelling the long QT syndrome with induced pluripotent stem cells.

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48.

Gianulis EC et. al. (2011) Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.

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Update: Sept. 26, 2018