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Long QT syndrome 2; LQT2

Disease ID:935
Name:Long QT syndrome 2; LQT2
Associated with:1 target
Long QT syndrome | Romano-Ward syndrome
Database Links
Disease Ontology: DOID:2843
OMIM: 613688
Orphanet: ORPHA101016


Role:  Mutations in hERG (KCNH2) can reduce IKr function and lead to reduced repolarization, prolonged ventricular action potentials and Torsades de Pointes arrhythmia.
Most mutations cause an accumulation of hERG subunits in the endoplasmic reticulum. Others cause functional defects or nonsense-mediated mRNA decay. Most drugs causing LQTS target IKr/hERG channels.
Therapeutic use:  hERG stable cell lines are used for counterscreening drugs in development as a safety test to prevent acquired LQTS
References:  1-6


No ligand related data available for Long QT syndrome 2; LQT2


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1. Anderson CL, Delisle BP, Anson BD, Kilby JA, Will ML, Tester DJ, Gong Q, Zhou Z, Ackerman MJ, January CT. (2006) Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation, 113 (3): 365-73. [PMID:16432067]

2. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. (1995) A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell, 80 (5): 795-803. [PMID:7889573]

3. Gong Q, Zhang L, Vincent GM, Horne BD, Zhou Z. (2007) Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome. Circulation, 116 (1): 17-24. [PMID:17576861]

4. Sanguinetti MC, Tristani-Firouzi M. (2006) hERG potassium channels and cardiac arrhythmia. Nature, 440 (7083): 463-9. [PMID:16554806]

5. Thomas D, Karle CA, Kiehn J. (2006) The cardiac hERG/IKr potassium channel as pharmacological target: structure, function, regulation, and clinical applications. Curr Pharm Des, 12 (18): 2271-83. [PMID:16787254]

6. Trudeau MC, Warmke JW, Ganetzky B, Robertson GA. (1995) HERG, a human inward rectifier in the voltage-gated potassium channel family. Science, 269 (5220): 92-5. [PMID:7604285]