Top ▲
This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 935 | |
Name: | Long QT syndrome 2; LQT2 | |
Associated with: | 1 target |
Synonyms |
Long QT syndrome | Romano-Ward syndrome |
Database Links |
Disease Ontology:
DOID:2843 OMIM: 613688 Orphanet: ORPHA101016 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖Kv11.1 | |
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 |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Long QT syndrome 2; LQT2
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]