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Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2)

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ERG1; HERG; HERG1; Kv11.1; LQT2; SQT1; Ether-a-go-go-related gene potassium channel 1; Voltage-gated potassium channel subunit Kv11.1

Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2)
CCC L042
HGNC 6251
MGI 1341722
PubMed 22706279
RGD 621414
UniProt Q12809
Wiki KCNH2
11.1 potassium ion channel. This ion channel (sometimes simply denoted as 'hERG') is best known for its contribution to the electrical activity of the heart that coordinates the heart's beating (i.e., the hERG channel mediates the repolarizing IKr current in the cardiac action potential). When this channel's ability to conduct electrical current across the cell membrane is inhibited or compromised, either by application of drugs or by rare mutations in some families, it can result in a potentially fatal disorder called long QT syndrome; a number of clinically successful drugs in the market have had the tendency to inhibit hERG, and create a concomitant risk of sudden death, as an unwanted side effect, which has made hERG inhibition an important antitarget which must be avoided during drug development

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel Subfamily H, Member 2 (KCNH2) ELISA Kit Customized Service Offer
  1. "A family of potassium channel genes related to eag in Drosophila and mammals."Proc. Natl. Acad. Sci. U.S.A. 91:3438-3442(1994) [PubMed] [Europe PMC] [Abstract]
  2. "Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome."Hum. Genet. 102:435-439(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Isolation of novel heart-specific genes using the BodyMap database."Genomics 74:115-120(2001) [PubMed] [Europe PMC] [Abstract]
  4. "Cell cycle-dependent expression of HERG1 and HERG1B isoforms in tumor cells."J. Biol. Chem. 278:2947-2955(2003) [PubMed] [Europe PMC] [Abstract]
  5. "Identification of a posttranslational mechanism for the regulation of hERG1 K+ channel expression and hERG1 current density in tumor cells."Mol. Cell. Biol. 28:5043-5060(2008) [PubMed] [Europe PMC] [Abstract]
  6. "A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia." Nat. Medicines 15:509-518(2009) [PubMed] [Europe PMC] [Abstract]
  7. "The DNA sequence of human chromosome 7." Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
  8. "Two isoforms of the mouse ether-a-go-go-related gene coassemble to form channels with properties similar to the rapidly activating component of the cardiac delayed rectifier K+ current."Circ. Res. 81:870-878(1997) [PubMed] [Europe PMC] [Abstract]
  9. "Electrophysiological characterization of an alternatively processed ERG K+ channel in mouse and human hearts."Circ. Res. 81:719-726(1997) [PubMed] [Europe PMC] [Abstract]
  10. "Analysis of the human KCNH2(HERG) gene: identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion."Hum. Mutat. 15:483-483(2000) [PubMed] [Europe PMC] [Abstract]
  11. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  12. "A K+ channel splice variant common in human heart lacks a C-terminal domain required for expression of rapidly activating delayed rectifier current."J. Biol. Chem. 273:27231-27235(1998) [PubMed] [Europe PMC] [Abstract]
  13. "Role of glycosylation in cell surface expression and stability of HERG potassium channels."Am. J. Physiol. 283:H77-H84(2002) [PubMed] [Europe PMC] [Abstract]
  14. "Cyclic AMP regulates the HERG K(+) channel by dual pathways."Curr. Biol. 10:671-674(2000) [PubMed] [Europe PMC] [Abstract]
  15. "A minK-HERG complex regulates the cardiac potassium current I(Kr)."Nature 388:289-292(1997) [PubMed] [Europe PMC] [Abstract]
  16. "MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia."Cell 97:175-187(1999) [PubMed] [Europe PMC] [Abstract]
  17. "Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome."J. Biol. Chem. 281:4069-4074(2006) [PubMed] [Europe PMC] [Abstract]
  18. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  19. "Crystal structure and functional analysis of the HERG potassium channel N-terminus: a eukaryotic PAS domain."Cell 95:649-655(1998) [PubMed] [Europe PMC] [Abstract]
  20. "A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome."Cell 80:795-803(1995) [PubMed] [Europe PMC] [Abstract]
  21. "Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome."Am. J. Med. Genet. 65:27-35(1996) [PubMed] [Europe PMC] [Abstract]
  22. "Missense mutation in the pore region of HERG causes familial long QT syndrome."Circulation 93:1791-1795(1996) [PubMed] [Europe PMC] [Abstract]
  23. "A mutation in HERG associated with notched T waves in long QT syndrome."J. Mol. Cell. Cardiol. 28:1609-1615(1996) [PubMed] [Europe PMC] [Abstract]
  24. "Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome."Circulation 95:565-567(1997) [PubMed] [Europe PMC] [Abstract]
  25. "Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1."Genomics 51:86-97(1998) [PubMed] [Europe PMC] [Abstract]
  26. "Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome."Hum. Genet. 102:265-272(1998) [PubMed] [Europe PMC] [Abstract]
  27. "Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family."Hum. Mutat. Suppl. 1:S184-S186(1998) [PubMed] [Europe PMC] [Abstract]
  28. "C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence."Circulation 99:1464-1470(1999) [PubMed] [Europe PMC] [Abstract]
  29. "Novel KCNQ1 and HERG missense mutations in Dutch long-QT families."Hum. Mutat. 13:301-310(1999) [PubMed] [Europe PMC] [Abstract]
  30. "Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation."J. Biol. Chem. 274:10113-10118(1999) [PubMed] [Europe PMC] [Abstract]
  31. "Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome."J. Cardiovasc. Electrophysiol. 10:1262-1270(1999) [PubMed] [Europe PMC] [Abstract]
  32. "Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2."Clin. Genet. 57:125-130(2000) [PubMed] [Europe PMC] [Abstract]
  33. "Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2."Circulation 102:1178-1185(2000) [PubMed] [Europe PMC] [Abstract]
  34. "Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects."Hum. Mutat. 15:580-581(2000) [PubMed] [Europe PMC] [Abstract]
  35. "The dominant negative LQT2 mutation A561V reduces wild-type HERG expression."J. Biol. Chem. 275:11241-11248(2000) [PubMed] [Europe PMC] [Abstract]
  36. "Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG."Am. J. Med. Genet. 98:348-352(2001) [PubMed] [Europe PMC] [Abstract]
  37. "Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome."Cardiovasc. Res. 54:67-76(2002) [PubMed] [Europe PMC] [Abstract]
  38. "Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes."Circulation 105:1943-1948(2002) [PubMed] [Europe PMC] [Abstract]
  39. "A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency."J. Biol. Chem. 277:48610-48616(2002) [PubMed] [Europe PMC] [Abstract]
  40. "Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome."Pediatr. Res. 53:744-748(2003) [PubMed] [Europe PMC] [Abstract]
  41. "Sudden death associated with short-QT syndrome linked to mutations in HERG."Circulation 109:30-35(2004) [PubMed] [Europe PMC] [Abstract]
  42. "Compound mutations: a common cause of severe long-QT syndrome."Circulation 109:1834-1841(2004) [PubMed] [Europe PMC] [Abstract]
  43. "Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing."Heart Rhythm 2:507-517(2005) [PubMed] [Europe PMC] [Abstract]
  44. "Short QT syndrome and atrial fibrillation caused by mutation in KCNH2."J. Cardiovasc. Electrophysiol. 16:394-396(2005) [PubMed] [Europe PMC] [Abstract]
  45. "Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome."Clin. Genet. 70:214-227(2006) [PubMed] [Europe PMC] [Abstract]
  46. "Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2."Biochem. Biophys. Res. Commun. 418:830-835(2012) [PubMed] [Europe PMC] [Abstract]