KCNE2

Summary

Gene Symbol: KCNE2
Description: potassium voltage-gated channel, Isk-related family, member 2
Alias: ATFB4, LQT5, LQT6, MIRP1, cardiac voltage-gated potassium channel accessory subunit 2, minK-related peptide 1, minK-related peptide-1, minimum potassium ion channel-related peptide 1, potassium channel subunit beta MiRP1, potassium channel subunit, MiRP1, potassium voltage-gated channel subfamily E member 2, voltage-gated K+ channel subunit MIRP1
Species: human

Top Publications

  1. pmc Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
    Jamie D Kapplinger
    Department of Medicine, Divisions of Cardiovascular Diseases and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Heart Rhythm 6:1297-303. 2009
  2. ncbi KCNE2 protein is expressed in ventricles of different species, and changes in its expression contribute to electrical remodeling in diseased hearts
    Min Jiang
    Department of Physiology, Virginia Commonwealth UniversityRichmond, VA 23298, USA
    Circulation 109:1783-8. 2004
  3. ncbi M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit
    N Tinel
    Institut de Pharmacologie Moleculaire et Cellulaire, CNRS UPR 411, Valbonne, France
    FEBS Lett 480:137-41. 2000
  4. ncbi MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
    G W Abbott
    Department of Pediatrics, Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, Connecticut 06536, USA
    Cell 97:175-87. 1999
  5. pmc KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel
    N Tinel
    Institut de Pharmacologie Moleculaire et Cellulaire, CNRS UPR 411, 660 route des Lucioles, Sophia Antipolis, 06560 Valbonne, France
    EMBO J 19:6326-30. 2000
  6. pmc Mutant MiRP1 subunits modulate HERG K+ channel gating: a mechanism for pro-arrhythmia in long QT syndrome type 6
    Yu Lu
    Physiological Laboratory, University of Cambridge, Cambridge CB2 3EG, UK
    J Physiol 551:253-62. 2003
  7. ncbi Expression and transcriptional control of human KCNE genes
    Andrew L Lundquist
    Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
    Genomics 87:119-28. 2006
  8. pmc Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
    Sekar Kathiresan
    Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 41:334-41. 2009
  9. ncbi The incorporation of an ion channel gene mutation associated with the long QT syndrome (Q9E-hMiRP1) in a plasmid vector for site-specific arrhythmia gene therapy: in vitro and in vivo feasibility studies
    Denise Y Burton
    Division of Cardiology, Children s Hospital of Philadelphia, Civic Center Boulevard, Philadelphia, PA 19104 4318, USA
    Hum Gene Ther 14:907-22. 2003
  10. doi In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant
    Ming Tai Lin
    Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan
    Heart Rhythm 5:1567-74. 2008

Scientific Experts

Detail Information

Publications138 found, 100 shown here

  1. pmc Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
    Jamie D Kapplinger
    Department of Medicine, Divisions of Cardiovascular Diseases and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Heart Rhythm 6:1297-303. 2009
    ..Long QT syndrome (LQTS) is a potentially lethal, highly treatable cardiac channelopathy for which genetic testing has matured from discovery to translation and now clinical implementation...
  2. ncbi KCNE2 protein is expressed in ventricles of different species, and changes in its expression contribute to electrical remodeling in diseased hearts
    Min Jiang
    Department of Physiology, Virginia Commonwealth UniversityRichmond, VA 23298, USA
    Circulation 109:1783-8. 2004
    Mutations in KCNE2 have been linked to long-QT syndrome (LQT6), yet KCNE2 protein expression in the ventricle and its functional role in native channels are not clear.
  3. ncbi M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit
    N Tinel
    Institut de Pharmacologie Moleculaire et Cellulaire, CNRS UPR 411, Valbonne, France
    FEBS Lett 480:137-41. 2000
    ..b>KCNE2 (MirP1) is a single transmembrane domain subunit first described to be a modulator of the HERG potassium channel ..
  4. ncbi MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
    G W Abbott
    Department of Pediatrics, Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, Connecticut 06536, USA
    Cell 97:175-87. 1999
    ..The gene encodes MinK-related peptide 1 (MiRP1), a small integral membrane subunit that assembles with HERG, a pore-forming protein, to alter its function...
  5. pmc KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel
    N Tinel
    Institut de Pharmacologie Moleculaire et Cellulaire, CNRS UPR 411, 660 route des Lucioles, Sophia Antipolis, 06560 Valbonne, France
    EMBO J 19:6326-30. 2000
    ..KCNE3 markedly changes KCNQ1 as well as HERG current properties. So far, KCNE2 (MirP1) has only been shown to modulate HERG current...
  6. pmc Mutant MiRP1 subunits modulate HERG K+ channel gating: a mechanism for pro-arrhythmia in long QT syndrome type 6
    Yu Lu
    Physiological Laboratory, University of Cambridge, Cambridge CB2 3EG, UK
    J Physiol 551:253-62. 2003
    Mutations in KCNE2, which encodes the minK-related protein 1 (MiRP1), are associated with an increased risk of arrhythmias; however, the underlying mechanisms are unknown...
  7. ncbi Expression and transcriptional control of human KCNE genes
    Andrew L Lundquist
    Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
    Genomics 87:119-28. 2006
    ....
  8. pmc Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
    Sekar Kathiresan
    Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 41:334-41. 2009
    ..SNPs at nine loci reached genome-wide significance: three are newly identified (21q22 near MRPS6-SLC5A3-KCNE2, 6p24 in PHACTR1 and 2q33 in WDR12) and six replicated prior observations (9p21, 1p13 near CELSR2-PSRC1-SORT1, ..
  9. ncbi The incorporation of an ion channel gene mutation associated with the long QT syndrome (Q9E-hMiRP1) in a plasmid vector for site-specific arrhythmia gene therapy: in vitro and in vivo feasibility studies
    Denise Y Burton
    Division of Cardiology, Children s Hospital of Philadelphia, Civic Center Boulevard, Philadelphia, PA 19104 4318, USA
    Hum Gene Ther 14:907-22. 2003
    ..In our studies we investigated the use of two bicistronic plasmid DNA gene vectors with either hMiRP1 or Q9E-MiRP1 and green fluorescent protein (GFP), plus a C-terminus of the hMiRP1 or of the Q9E-hMiRP1 coding region for the ..
  10. doi In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant
    Ming Tai Lin
    Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan
    Heart Rhythm 5:1567-74. 2008
    ..However, we found an unusual in utero presentation of intermittent atrioventricular block and ventricular tachycardia (spontaneous or lidocaine-induced) in a fetus and his sibling with LQTS...
  11. ncbi A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family
    M J Ackerman
    Department of Pediatrics and Adolescent Medicine, Mayo Clinic Foundation, Rochester, Minnesota 55905, USA
    Pediatr Res 44:148-53. 1998
    ..Genetic linkage analysis excluded the regions for LQT2, LQT3, and LQT5. However, the chromosome 11p15.5 region (LQT1) showed evidence of linkage with a maximum lod score of 3.36...
  12. ncbi [Present concepts of congenital long QT syndrome]
    A Leenhardt
    Service de cardiologie, , Paris
    Arch Mal Coeur Vaiss 93:17-21. 2000
    ..for LQT3), and two regulatory subunits of potassium channels (KCNE1 for LQT5 regulating the KvLQT1 channel and MiRP1 regulating HERG)...
  13. ncbi [DNA-based diagnostics of long QT syndrome]
    Knut Erik Berge
    Avdeling for medisinsk genetikk, Rikshospitalet, 0027 Oslo
    Tidsskr Nor Laegeforen 125:2783-6. 2005
    ..For Romano-Ward syndrome and Jervell and Lange-Nielsen syndrome DNA based diagnostics are available...
  14. ncbi Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations
    D Wattanasirichaigoon
    Division of Genetics, Children s Hospital, Boston, Massachusetts 02115, USA
    Am J Med Genet 86:470-6. 1999
    ..Three of these, LQT1, LQT2, and LQT5, encode potassium channel subunits. LQT3 encodes the cardiac-specific sodium channel, SCN5A...
  15. doi Arrhythmia phenotype in mouse models of human long QT
    Guy Salama
    Department of Cell Biology and Physiology, School of Medicine, University of Pittsburgh, S312 Biomedical Science Tower, 200 Lothrop St, Pittsburgh, PA 15261, USA
    J Interv Card Electrophysiol 24:77-87. 2009
    ..Both currents are important human K(+) currents associated with LQT5 and LQT2...
  16. ncbi Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects
    Jonathan Sherman
    Mayo Medical School, 200 First Street SW, Rochester, MN 55905, USA
    Heart Rhythm 2:1218-23. 2005
    ..Mutations in ANK2-encoded ankyrin-B underlie long QT syndrome type 4 (LQT4) and various other dysrhythmia phenotypes...
  17. ncbi Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome
    L Bianchi
    The Rammelkamp Center for Education and Research, MetroHealth Campus, Case Western Reserve University, 2500 MetroHealth Drive, Cleveland, OH 44109 1998, USA
    Hum Mol Genet 8:1499-507. 1999
    Mutations in the minK gene KCNE1 have been linked to the LQT5 variant of human long QT syndrome...
  18. pmc Impact of ancillary subunits on ventricular repolarization
    Geoffrey W Abbott
    Greenberg Division of Cardiology, Department of Medicine, Cornell University, Weill Medical College, New York, NY, USA
    J Electrocardiol 40:S42-6. 2007
    ..b>MiRP1 alters hERG function and pharmacology, and inherited MiRP1 mutations are associated with inherited and acquired ..
  19. ncbi Genetics, molecular mechanisms and management of long QT syndrome
    Q Wang
    Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston 77030, USA
    Ann Med 30:58-65. 1998
    ..5, HERG (LQT2) on chromosome 7q35-36, SCN5A (LQT3) on chromosome 3p21-24, and MinK (LQT5) on chromosome 21q22...
  20. ncbi [Homozygotous mutation of the SCN5A gene responsible for congenital long QT syndrome with 2/1 atrioventricular block]
    J M Lupoglazoff
    Hopital Robert Debre, 48, bd Serurier, 75019 Paris
    Arch Mal Coeur Vaiss 95:440-6. 2002
    ..Heterozygous mutations in KCNQ1, HERG, SCN5A, KCNE1 and KCNE2 genes are responsible for the dominant form without deafness whereas homozygous mutations in KCNQ1 and KCNE1 are ..
  21. doi Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome
    Seiko Ohno
    Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
    Hum Mutat 30:557-63. 2009
    ..Among the genes that are responsible for LQTS, KCNE1 and KCNE2 are members of the KCNE family of genes, and function as ancillary subunits of Kv channels...
  22. pmc Congenital long QT syndrome
    Lia Crotti
    Section of Cardiology, Department of Lung, Blood and Heart, University of Pavia, Pavia, Italy
    Orphanet J Rare Dis 3:18. 2008
    ..Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B) cause the disease by prolonging the duration of the action potential...
  23. ncbi The long QT syndromes: genetic basis and clinical implications
    C E Chiang
    Department of Medicine, Taipei Veterans General Hospital and National Yang Ming University School of Medicine, Taiwan
    J Am Coll Cardiol 36:1-12. 2000
    ..in the KVLQT1, human "ether-a-go-go" related gene, cardiac voltage-dependent sodium channel gene, minK and MiRP1 genes, respectively, are responsible for the LQT1, LQT2, LQT3, LQT5 and LQT6 variants of the Romano-Ward syndrome, ..
  24. ncbi RNA interference reveals that endogenous Xenopus MinK-related peptides govern mammalian K+ channel function in oocyte expression studies
    Arun Anantharam
    Division of Cardiology, Department of Medicine and Pharmacology, Graduate Program of Neuroscience, Weill Medical College of Cornell University, New York, New York 10021, USA
    J Biol Chem 278:11739-45. 2003
    ..The functional effects of human MiRP1 (hMiRP1)/HERG interaction were also affected by endogenous xMiRP2...
  25. ncbi [Value of genetic testing in the management of the congenital long QT syndrome]
    J M Lupoglazoff
    Service de cardiologie infantile, Hopital Robert Debre, 48, bd Serurier, 75019 Paris
    Arch Mal Coeur Vaiss 96:539-47. 2003
    ..responsible for the forms LQT1, LQT2, LQT5 and LQT6, coding for the potassium channels (KCNQ1, HERG, KCNE1 and KCNE2, respectively) which, in the heterozygote state, are responsible for the main forms of LQTS without deafness and, ..
  26. pmc A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome
    Yoshiyasu Aizawa
    Masonic Medical Research Laboratory, Utica, New York 13501 1787, USA
    J Cardiovasc Electrophysiol 18:972-7. 2007
    ..Long QT Syndrome (LQTS) is an inherited disorder characterized by prolonged QT intervals and life-threatening polymorphic ventricular tachyarrhythmias. LQT1 caused by KCNQ1 mutations is the most common form of LQTS...
  27. doi Cardiac ion channel gene mutations in Greek long QT syndrome patients
    C M Kotta
    Division of Inherited Cardiovascular Diseases, 1st Department of Cardiology, University of Athens Medical School, Hippokration Hospital, 14 Paloumbioti St, 11476 Athens, Greece
    J Appl Genet 51:515-8. 2010
    ..evaluated and genetically screened 17 unrelated patients for mutations in the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 cardiac ion channel genes...
  28. doi Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing
    Kim M Summers
    The Roslin Institute and Royal Dick School of Veterinary Studies, The University of Edinburgh, Midlothian, Scotland, UK
    Am J Med Genet A 152:613-21. 2010
    ..One region on chromosome 21 contained the KCNE1, KCNE2, KCNJ6, and KCNJ15 genes...
  29. ncbi [Long QT syndrome in children: analysis of the Lyon series]
    M Iraqi
    Service de Cardiologie Pediatrique, Hopital Louis Pradel, Lyon
    Arch Mal Coeur Vaiss 99:134-40. 2006
    ..The other patient had a double mutation of the SCN5A and KCNE2 genes...
  30. ncbi Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome
    P Duggal
    Department of Cardiology, Children s Hospital, Harvard Medical School, Boston, Mass 02115, USA
    Circulation 97:142-6. 1998
    ..This relationship makes KCNE1 a likely candidate gene, because mutations of these genes are known to cause both the autosomal dominant Romano-Ward and recessive Jervell and Lange-Nielsen (JLN) forms of LQTS...
  31. ncbi Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
    I Splawski
    Department of Human Genetics, Howard Hughes Medical Institute, Division of Cardiology, Salt Lake City, Utah, USA
    Circulation 102:1178-85. 2000
    ..have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Mutations in KVLQT1 and KCNE1 also cause the Jervell and Lange-Nielsen syndrome, a form of LQTS associated with ..
  32. doi Funny current downregulation and sinus node dysfunction associated with atrial tachyarrhythmia: a molecular basis for tachycardia-bradycardia syndrome
    Yung Hsin Yeh
    Department of Medicine, Montreal Heart Institute Research Center and Université de Montréal, Montreal, Quebec, Canada
    Circulation 119:1576-85. 2009
    ..This study examined the hypothesis that ATs impair SAN function by altering ion channel expression...
  33. pmc Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis
    Torsten K Roepke
    Greenberg Division of Cardiology, Department of Medicine and Department of Pharmacology, Weill Medical College of Cornell University, New York, New York, USA
    Nat Med 15:1186-94. 2009
    ..Here, we show that the potassium channel subunits KCNQ1 and KCNE2 form a thyroid-stimulating hormone-stimulated, constitutively active, thyrocyte K+ channel required for normal ..
  34. ncbi WTC deafness Kyoto (dfk): a rat model for extensive investigations of Kcnq1 functions
    Hiroshi Gohma
    Institute of Laboratory Animals, Graduate School of Medicine, Kyoto University, Kyoto, Japan
    Physiol Genomics 24:198-206. 2006
    ..In the stomach, KCNQ1 is coassembled with KCNE2 to form the K+ exflux channel that is essential for gastric acid secretion...
  35. pmc Torsades de pointes during complete atrioventricular block: Genetic factors and electrocardiogram correlates
    Rajesh N Subbiah
    University of Western Ontario, London
    Can J Cardiol 26:208-12. 2010
    ..It was hypothesized that patients with AV block-mediated QT-related arrhythmia may have latent congenital long QT syndrome or a vulnerable genetic polymorphism...
  36. ncbi The long QT syndrome: ion channel diseases of the heart
    M J Ackerman
    Department of Pediatric and Adolescent Medicine, Mayo Clinic Rochester, MN 55905, USA
    Mayo Clin Proc 73:250-69. 1998
    ..LQT2), SCN5A (LQT3), and KCNE1 (minK, LQT5)--have been identified in LQTS...
  37. ncbi Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome
    Yuko Oka
    Department of Respiratory and Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan
    Circ J 74:2562-71. 2010
    ..Atrioventricular block (AVB) sometimes complicates QT prolongation and torsades de pointes (TdP)...
  38. pmc Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction
    Dan Hu
    Masonic Medical Research Laboratory, Utica, New York, USA
    Heart Rhythm 4:1072-80. 2007
    ..Ventricular tachycardia (VT) and ventricular fibrillation (VF) complicating Brugada syndrome, a genetic disorder linked to SCN5A mutations, and VF complicating acute myocardial infarction (AMI) both have been linked to phase 2 reentry...
  39. pmc Effects of MiRP1 and DPP6 beta-subunits on the blockade induced by flecainide of Kv4.3/KChIP2 channels
    S Radicke
    Department of Pharmacology, School of Medicine, Universidad Complutense de Madrid, Madrid, Spain
    Br J Pharmacol 154:774-86. 2008
    ..3 alpha-subunit, coassembled with modulatory beta-subunits as KChIP2, MiRP1 and DPP6 proteins...
  40. pmc Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation
    Carmen R Valdivia
    Department of Medicine, Cardiovascular Section, and the Cardiac Molecular Arrhythmias Research Program, University of Wisconsin Madison, 600 Highland Avenue H6 349, Madison, WI 53792, USA
    Cardiovasc Res 86:392-400. 2010
    ..5 is regulated by four sodium channel auxiliary beta subunits. Here, we report a case with IVF and a novel mutation in the SCN3B-encoded sodium channel beta subunit Navbeta3 that causes a loss of function of Nav1.5 channels in vitro...
  41. ncbi An LQT mutant minK alters KvLQT1 trafficking
    Andrew Krumerman
    Department of Medicine, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Am J Physiol Cell Physiol 286:C1453-63. 2004
    ..Mutations of genes encoding KvLQT1 and minK are responsible for the hereditary long QT syndrome (loci LQT1 and LQT5, respectively). MinK-L51H fails to traffic to the cell surface, thereby failing to produce effective I(Ks)...
  42. ncbi MiRP1 modulates HCN2 channel expression and gating in cardiac myocytes
    Jihong Qu
    Department of Pharmacology, Columbia University, New York, NY 10032, USA
    J Biol Chem 279:43497-502. 2004
    MinK-related protein (MiRP1 or KCNE2) interacts with the hyperpolarization-activated, cyclic nucleotide-gated (HCN) family of pacemaker channels to alter channel gating in heterologous expression systems...
  43. ncbi Postmortem molecular screening in unexplained sudden death
    Sumeet S Chugh
    Division of Cardiology, Oregon Health and Science University, Portland, 97239, USA
    J Am Coll Cardiol 43:1625-9. 2004
    ..We examined the prevalence of defects in arrhythmia-related candidate genes among patients with unexplained sudden cardiac death (SCD)...
  44. ncbi Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome
    J Zehelein
    Innere Medizin III, Universitätsklinik Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany
    Biochim Biophys Acta 1690:185-92. 2004
    ..Genetic studies have identified mutations in six ion channel genes, KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 and the accessory protein Ankyrin-B gene, to be responsible for this disorder...
  45. ncbi Molecular genetic studies in atrial fibrillation
    Ling Ping Lai
    Institute of Pharmacology, National Taiwan University, and Department of Internal Medicine, National Taiwan University, Taipei, Taiwan
    Cardiology 100:109-13. 2003
    ..On the other hand, researchers in Taiwan reported that a nonsynonymous single nucleotide polymorphism of the LQT5 gene (I(Ks) beta-subunit) is associated with atrial fibrillation...
  46. pmc Targeted deletion of Kcne2 causes gastritis cystica profunda and gastric neoplasia
    Torsten K Roepke
    Department of Pharmacology, Weill Medical College of Cornell University, New York, New York, United States of America
    PLoS ONE 5:e11451. 2010
    ..In parietal cells, apical potassium channels comprising the KCNQ1 alpha subunit and the KCNE2 beta subunit provide a K(+) efflux current to facilitate gastric acid secretion by the apical H(+)K(+)ATPase...
  47. pmc The gastric H,K ATPase as a drug target: past, present, and future
    George Sachs
    Department of Physiology, David Geffen School of Medicine, University of California at Los Angeles, CA, USA
    J Clin Gastroenterol 41:S226-42. 2007
    ..from 99% pure parietal cells and immunocytochemistry, provided evidence that the KCl pathway is mediated by a KCQ1/KCNE2 complex for supplying K and CLIC6 for supplying the accompanying Cl...
  48. ncbi Molecular and functional characterization of ERG, KCNQ, and KCNE subtypes in rat stomach smooth muscle
    Susumu Ohya
    Department of Molecular and Cellular Pharmacology, Graduate School of Pharmaceutical Sciences, Nagoya City University, 3 1 Tanabedori, Mizuhoku, Nagoya 467 8603, Japan
    Am J Physiol Gastrointest Liver Physiol 282:G277-87. 2002
    ..The region-qualified multicell RT-PCR showed that ERG1/KCNE2 transcripts were expressed in rat stomach fundus and antrum SMCs and that KCNQ1/KCNE1 transcripts were expressed ..
  49. ncbi Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol
    Ravi C Balijepalli
    Department of Medicine, Cellular and Molecular Arrhythmia Research Program, University of Wisconsin, Madison, Wisconsin, USA
    Channels (Austin) 1:263-72. 2007
    ..1 protein, along with MiRP1 and Kv7.1 (KCNQ1) proteins, localize in cholesterol and sphingolipid enriched membrane fractions...
  50. ncbi [Mutational analysis of LQT genes in individuals with drug induced QT interval prolongation]
    T Novotny
    Interní kardiologická klinika Lékarské fakulty MU a FN Brno
    Vnitr Lek 52:116-8. 2006
    ..Many of these drugs are potent blockers of cardiac ion channels. Thus, prolongation of repolarization could be caused by latent ion channel genes mutations which are revealed under stress conditions...
  51. doi A multistep validation process of biomarkers for preclinical drug development
    W M Freeman
    Functional Genomics Core Facility, Penn State College of Medicine, Hershey, PA 17033, USA
    Pharmacogenomics J 10:385-95. 2010
    ..particular biomarker panel consisting of 14 genes (C1inh, C1s, Carhsp1, Chi3l1, Gat3, Gbp2, Hspb1, Icam1, Jak3, Kcne2, Lama5, Lgals3, Nppa, Timp1) can be used in diabetic retinopathy pharmacotherapeutic research, and the biomarker ..
  52. ncbi Canine ventricular KCNE2 expression resides predominantly in Purkinje fibers
    Marc Pourrier
    Department of Medicine, University of Montreal, Montreal, Quebec, Canada
    Circ Res 93:189-91. 2003
    Mutations in minK-related peptide 1 (MiRP1), the product of the KCNE2 gene, have been associated with malignant ventricular arrhythmia syndromes related to impaired repolarization...
  53. ncbi Asymmetrical distribution of ion channels in canine and human left-ventricular wall: epicardium versus midmyocardium
    Gergely Szabo
    Department of Physiology, University of Debrecen, 4012 Debrecen, P O Box 22, Hungary
    Pflugers Arch 450:307-16. 2005
    ..1, alpha1C, HERG and MiRP1)...
  54. ncbi Expression and coassociation of ERG1, KCNQ1, and KCNE1 potassium channel proteins in horse heart
    Melissa R Finley
    Department of Anatomy and Physiology, Kansas State University, Manhattan, Kansas 66506 5802, USA
    Am J Physiol Heart Circ Physiol 283:H126-38. 2002
    ..and immunostaining to demonstrate the expression of ERG1, KCNQ1, KCNE1, and KCNE3 proteins and RT-PCR to detect KCNE2 message. Peptide N-glycosidase F-sensitive forms of horse ERG1 (145 kDa) and KCNQ1 (75 kDa) were detected...
  55. ncbi [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]
    Wen ling Liu
    Cardiology Division, People s Hospital, Peking University, Beijing 100044, China
    Zhonghua Nei Ke Za Zhi 45:463-6. 2006
    ..LQTS is caused by mutations in cardiac sodium channel gene SCN5A; potassium channel subunit genes KCNQ1, KCNH2, KCNE1, KCNE2, KCNJ2; calcium channel gene Cav2.1. and ankyrin-B gene ANK2.
  56. pmc Regulation of the Kv2.1 potassium channel by MinK and MiRP1
    Zoe A McCrossan
    Greenberg Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, New York, NY 10065, USA
    J Membr Biol 228:1-14. 2009
    ..Mutations in human MinK (KCNE1) and MiRP1 (KCNE2) are associated with inherited and acquired forms of long QT syndrome (LQTS)...
  57. ncbi Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function
    Dong Mei Wu
    Department of Physiology, Virginia Commonwealth University, Richmond, 23298, USA
    Heart Rhythm 3:1031-40. 2006
    Y81C is a new long QT-5 (LQT5)-related KCNE1 mutation, which is located in the post-transmembrane domain (post-TMD) region in close proximity to three other LQT5 mutations (S74L, D76N, and W87R).
  58. ncbi MinK, MiRP1, and MiRP2 diversify Kv3.1 and Kv3.2 potassium channel gating
    Anthony Lewis
    Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA
    J Biol Chem 279:7884-92. 2004
    ..channel subunits cloned from rat and expressed in Chinese hamster ovary cells, we show that modulation by MinK, MiRP1, and MiRP2 is a general mechanism for slowing of Kv3.1 and Kv3...
  59. pmc Regulation of voltage-gated potassium channels by PI(4,5)P2
    Martin Kruse
    Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195, USA
    J Gen Physiol 140:189-205. 2012
    ..3, K(V)1.4, and K(V)1.5/K(V)β1.3, K(V)2.1, K(V)3.4, K(V)4.2, K(V)4.3 (with different KChIPs and DPP6-s), and hERG/KCNE2. Interestingly, we found a substantial removal of inactivation for K(V)1.1/K(V)β1.1 and K(V)3...
  60. doi The voltage-gated channel accessory protein KCNE2: multiple ion channel partners, multiple ways to long QT syndrome
    Jodene Eldstrom
    Department of Anesthesiology, Pharmacology and Therapeutics, University of British Columbia, Vancouver, BC, Canada
    Expert Rev Mol Med 13:e38. 2011
    The single-pass transmembrane protein KCNE2 or MIRP1 was once thought to be the missing accessory protein that combined with hERG to fully recapitulate the cardiac repolarising current IKr...
  61. pmc Functional interactions between KCNE1 C-terminus and the KCNQ1 channel
    Jerri Chen
    Department of Molecular Pharmacology, Albert Einstein College of Medicine, Bronx, NY, USA
    PLoS ONE 4:e5143. 2009
    ..We analyzed the effects of an LQT5 point mutation (D76N) and the truncation of the entire C-terminus (Delta70) on channel regulation, assembly and ..
  62. pmc KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population
    Wenling Liu
    Cardiology Division, the People s Hospital of Peking University, Beijing, P R China
    Hum Mutat 20:475-6. 2002
    ..including the cardiac sodium channel gene SCN5A, and potassium channel subunit genes KCNQ1, KCNH2, KCNE1, and KCNE2. Little information is available about LQTS mutations in the Chinese population...
  63. ncbi KCNQ1 gain-of-function mutation in familial atrial fibrillation
    Yi Han Chen
    Department of Cardiology, Tongji Hospital, and Institute of Medical Genetics, Tongji University, 399 Xin Cun Road, Shanghai 200065, People s Republic of China
    Science 299:251-4. 2003
    ..5. The KCNQ1 gene encodes the pore-forming alpha subunit of the cardiac I(Ks) channel (KCNQ1/KCNE1), the KCNQ1/KCNE2 and the KCNQ1/KCNE3 potassium channels...
  64. ncbi Heartburn: cardiac potassium channels involved in parietal cell acid secretion
    Siegfried Waldegger
    Department of Paediatrics, University Hospital Marburg, Deutschhausstrasse 12, 35037, Marburg, Germany
    Pflugers Arch 446:143-7. 2003
    ..in the understanding of the role of K(+) channels in the process of parietal cell H(+) secretion and focuses on the identification of KCNQ1/KCNE2 K(+) channel as the molecular correlate of the parietal cell apical potassium conductance.
  65. ncbi Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome
    Michael J Ackerman
    Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic, Rochester, Minn 55905, USA
    Mayo Clin Proc 78:1479-87. 2003
    ..To determine the spectrum, frequency, and ethnic-specificity of channel variants in the potassium channel genes implicated in congenital long QT syndrome (LQTS) among healthy subjects...
  66. doi Biophysical characterization of the short QT mutation hERG-N588K reveals a mixed gain-and loss-of-function
    Morten Grunnet
    Neurosearch A S, Pederstrupvej 93, 2750 Ballerup, Denmark
    Cell Physiol Biochem 22:611-24. 2008
    ..Also the impact of the beta-subunits KCNE2 was investigated...
  67. ncbi Strategy for a genetic assessment of antipsychotic and antidepressant-related proarrhythmia
    Antonio Drago
    Institute of Psychiatry, University of Bologna, Viale Carlo Pepoli, 5, 40123 Bologna BO, Italy
    Curr Med Chem 15:2472-517. 2008
    ..of genes have been associated with arrhythmia: SCN5A, SCN4B, CACNL1AC, KCNH2, KCNQ1, KCNE1, ANK2, ALG10, KCNJ2, KCNE2, RYR2, KCND3, KCND2, ACE, NOS1AP, CASQ2 and Rad...
  68. doi Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome
    Carey Anne Eddy
    Cardiac Inherited Diseases Group CIDG, Auckland City Hospital Starship Children s Hospital, Auckland, New Zealand
    Heart Rhythm 5:1275-81. 2008
    ..Large gene deletions and duplications can be missed with these methodologies...
  69. pmc A high-density association screen of 155 ion transport genes for involvement with common migraine
    Dale R Nyholt
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane4029, Queensland, Australia
    Hum Mol Genet 17:3318-31. 2008
    ..SNPs within 12 genes (KCNB2, KCNQ3, CLIC5, ATP2C2, CACNA1E, CACNB2, KCNE2, KCNK12, KCNK2, KCNS3, SCN5A and SCN9A) with promising nominal association (0.00041 < P < 0...
  70. doi A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions
    Atsushi Ishii
    Department of Pediatrics, School of Medicine, Fukuoka University, 45 1, 7 chome Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
    Brain Dev 31:27-33. 2009
    ..Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e., sporadic idiopathic epilepsy, which share a phenotype similar to those of familial epilepsy...
  71. pmc Hormonal regulation of cardiac KCNE2 gene expression
    Pallob Kundu
    Division of Molecular Medicine, Department of Anesthesiology, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095 7115, United States
    Mol Cell Endocrinol 292:50-62. 2008
    The KCNE2 gene encodes a single transmembrane domain protein that modulates a variety of K+ channel functions in various tissues...
  72. ncbi Two components of delayed rectifier K+ current in heart: molecular basis, functional diversity, and contribution to repolarization
    Jian Hua Cheng
    Department of Pharmacology, Faculty of Basic Medical Sciences, School of Medicine, Tongji University, Shanghai 200331, China
    Acta Pharmacol Sin 25:137-45. 2004
    ..HERG may be associated with mink (KCNE1) and/or minK-related protein (MiRP1) to form IKr, but the issue remains to be established...
  73. pmc Targeted deletion of kcne2 impairs ventricular repolarization via disruption of I(K,slow1) and I(to,f)
    Torsten K Roepke
    Greenberg Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, 1300 York Ave, New York, NY 10065, USA
    FASEB J 22:3648-60. 2008
    Mutations in human KCNE2, which encodes the MiRP1 potassium channel ancillary subunit, associate with long QT syndrome (LQTS), a defect in ventricular repolarization...
  74. ncbi DHPLC analysis of potassium ion channel genes in congenital long QT syndrome
    Roselie Jongbloed
    Department of Genetics and Cell Biology, University Maastricht, Maastricht, The Netherlands
    Hum Mutat 20:382-91. 2002
    ..DHPLC) technique for analysis of the entire KCNQ1 and KCNH2 genes and the protein encoding part of the KCNE1 and KCNE2 genes...
  75. doi KCNE4 suppresses Kv1.3 currents by modulating trafficking, surface expression and channel gating
    Laura Sole
    Departament de Bioquimica i Biologia Molecular, Molecular Physiology Laboratory, Institut de Biomedicina IBUB, Universitat de Barcelona, Avda Diagonal 645, 08028 Barcelona, Spain
    J Cell Sci 122:3738-48. 2009
    ..Here, we demonstrate that KCNE4 (potassium voltage-gated channel subfamily E member 4), but not KCNE2, functions as an inhibitory Kv1.3 partner in leukocytes. Kv1...
  76. pmc KCNE1 and KCNE2 inhibit forward trafficking of homomeric N-type voltage-gated potassium channels
    Vikram A Kanda
    Department of Pharmacology, Weill Medical College of Cornell University, New York, New York, USA
    Biophys J 101:1354-63. 2011
    ..4 channels are all strongly suppressed by the single transmembrane domain ancillary (β) subunits KCNE1 and KCNE2. A combination of electrophysiological, biochemical, and immunofluorescence analyses revealed this suppression is ..
  77. pmc Sexual dimorphism and oestrogen regulation of KCNE3 expression modulates the functional properties of KCNQ1 K⁺ channels
    Rodrigo Alzamora
    Department of Molecular Medicine, Education and Research Centre, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Republic of Ireland
    J Physiol 589:5091-107. 2011
    ..KCNE1 and KCNE3 mRNA and protein abundance were significantly higher in male than female crypts. No expression of KCNE2 was found and no difference was observed in KCNQ1 expression between male and female (at oestrus) colonic crypts...
  78. ncbi Measurements of cardiac ion channel subunits in the chronic atrioventricular block dog
    Akira Takahara
    Department of Clinical Pharmacy, Faculty of Pharmaceutical Sciences, Toho University, Funabashi, Chiba 274 8510, Japan
    J Pharmacol Sci 116:132-5. 2011
    ..The mRNA levels of KvLQT1 and MiRP1 were significantly less in the CAVB heart compared with those in the intact heart, whereas no significant ..
  79. doi Mutation analysis ion channel genes ventricular fibrillation survivors with coronary artery disease
    Tomas Novotny
    Department of Internal Medicine and Cardiology, University Hospital Brno and Faculty of Medicine of Masaryk University, Brno, Czech Republic
    Pacing Clin Electrophysiol 34:742-9. 2011
    ..The aim of this study was to test the hypothesis that ion channel genes mutations are more common in ventricular fibrillation (VF) survivors with coronary artery disease (CAD) compared to controls...
  80. doi Domperidone treatment for gastroparesis: demographic and pharmacogenetic characterization of clinical efficacy and side-effects
    Henry P Parkman
    Gastroenterology Section, School of Medicine, Temple University School of Medicine, Parkinson Pavilion, 8th Floor, 3401 North Broad Street, Philadelphia, PA 19140, USA
    Dig Dis Sci 56:115-24. 2011
    ..Effectiveness and side-effects from domperidone may be influenced by patient-related factors including polymorphisms in genes encoding drug-metabolizing enzymes, drug transporters, and domperidone targets...
  81. ncbi Long QT syndromes and torsade de pointes
    S Viskin
    Department of Cardiology, Sourasky Tel Aviv Medical Center, and Sackler School of Medicine, Tel Aviv University, Israel
    Lancet 354:1625-33. 1999
    ..Six genotypes (LQT1 to LQT6) have been identified, and attempts are being made to correlate different mutations with clinical signs and ..
  82. ncbi Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online
    J Benhorin
    Heiden Department of Cardiology, Bikur Cholim Hospital, Jerusalem, Israel
    Hum Mutat 12:72. 1998
    ..LQT was found to be caused by mutations in four genes LTQ1, LQT2, LQT3 and LQT5, and linkage was reported for an additional locus, LQT4, on chromosome 4q25-27...
  83. pmc Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing
    David J Tester
    Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA
    Am J Cardiol 106:1124-8. 2010
    ..was used to analyze the 3 major LQTS-associated genes, KCNQ1, KCNH2, and SCN5A, and the 2 minor genes, KCNE1 and KCNE2. Overall, 2 gene rearrangements were found in 2 of 42 unrelated patients (4.8%, confidence interval 1.7 to 11)...
  84. doi Impact of KCNE subunits on KCNQ1 (Kv7.1) channel membrane surface targeting
    Meritxell Roura-Ferrer
    Molecular Physiology Laboratory, Departament de Bioquimica i Biologia Molecular, Institut de Biomedicina IBUB, Universitat de Barcelona, Barcelona, Spain
    J Cell Physiol 225:692-700. 2010
    ..Only KCNQ1 and KCNE3, when expressed alone, co-localized in raft fractions. In addition, while KCNE2 and KCNE5 notably stained the cell surface, KCNQ1 and the rest of the KCNEs showed strong intracellular retention...
  85. doi High-mobility group box 1 (HMGB1) downregulates cardiac transient outward potassium current (Ito) through downregulation of Kv4.2 and Kv4.3 channel transcripts and proteins
    Wenjuan Liu
    Department of Pathophysiology, Southern Medical University, Guangzhou, China
    J Mol Cell Cardiol 49:438-48. 2010
    ..2 and Kv4.3 channels, but not the beta subunit KChIP2 and KCNE2 in NRVMs...
  86. doi Dynamic changes in HCN2, HCN4, KCNE1, and KCNE2 expression in ventricular cells from acute myocardial infarction rat hearts
    Shuang Xia
    Department of Cardiology, The Second Affiliated Hospital of Chongqing Medical University, 76 Linjiang Road, Yuzhong District, Chongqing 400010, China
    Biochem Biophys Res Commun 395:330-5. 2010
    To investigate dynamic changes in the expression of HCN2, HCN4, as well as KCNE1, and KCNE2 mRNA and protein levels in ventricular cells from acute myocardial infarction (AMI) rat hearts.
  87. ncbi [Genetic in long QT syndromes]
    Pedro Iturralde-Torres
    Servicio de Electrofisiología, Instituto Nacional de Cardiologia Ignacio Chavez
    Arch Cardiol Mex 79:26-30. 2009
    ..heterogeneity and has been identified more than 500 mutations distributed in 10 genes: KCNQ1, HERG, SCN5A, KCNE1, KCNE2, ANKB, KCNJ2, CACNA1A, CAV3 and SCN4B...
  88. pmc Structural basis for K(V)7.1-KCNE(x) interactions in the I(Ks) channel complex
    Alicia Lundby
    Danish National Research Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark
    Heart Rhythm 7:708-13. 2010
    ..1 modulation by KCNE1. Recent evidence further suggests that KCNE2 may associate with the K(V)7.1-KCNE1 channel complex and modulate its current amplitude...
  89. pmc A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death
    Eyal Nof
    Masonic Medical Research Laboratory, Utica, NY 13501, USA
    Circ Cardiovasc Genet 3:199-206. 2010
    ..We present a family in which a common polymorphism (single nucleotide polymorphism) inherited from the father, combined with a stop codon mutation inherited from the mother (both asymptomatic), led to 2 cases of sudden infant death...
  90. pmc Characterization of basolateral K+ channels underlying anion secretion in the human airway cell line Calu-3
    Elizabeth A Cowley
    Department of Physiology and Biophysics, Dalhousie University, Halifax, Nova Scotia, Canada B3H 4H7
    J Physiol 538:747-57. 2002
    ..chain reaction, we found that Calu-3 cells express the K+ channel genes KCNN4 and KCNQ1 and the subunits KCNE2 and KCNE3...
  91. pmc The gastric HK-ATPase: structure, function, and inhibition
    Jai Moo Shin
    Department of Physiology, David Geffen School of Medicine, University of California at Los Angeles and VA Greater Los Angeles Healthcare System, Los Angeles, CA 90073, USA
    Pflugers Arch 457:609-22. 2009
    ..Potassium access from the lumen depends on activation of a K and Cl conductance via a KCNQ1/KCNE2 complex and Clic6...
  92. ncbi Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels
    Blake D Anson
    Department of Medicine, University of Wisconsin, 1300 University Ave, Madison, WI 53711, USA
    Am J Physiol Heart Circ Physiol 286:H2434-41. 2004
    ..e., amino-acid coding variants) with functional phenotypes in the SCN5A Na(+) channel and MiRP1 K(+) channel beta-subunit have challenged this viewpoint...
  93. ncbi Diabetes mellitus attenuates the repolarization reserve in mammalian heart
    Csaba Lengyel
    Department of Pharmacology and Pharmacotherapy, University of Szeged, Hungary
    Cardiovasc Res 73:512-20. 2007
    ..The present study was designed to analyse the effects of experimental type 1 diabetes on ventricular repolarization and its underlying transmembrane ionic currents and channel proteins in canine hearts...
  94. ncbi Effect of beta-adrenoceptor blockers on human ether-a-go-go-related gene (HERG) potassium channels
    Delphine S Dupuis
    Department of Medical Physiology and Copenhagen Heart Arrhythmia Research Center, University of Copenhagen, Panum Institute, 3 Blegdamsvej, DK 2200 Copenhagen N and NeuroSearch, DK 2750 Ballerup, Denmark
    Basic Clin Pharmacol Toxicol 96:123-30. 2005
    ..When HERG was co-expressed with the accessory subunit KCNE2, an IC50 value of 52 microM was determined...
  95. ncbi Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes
    Grace Choi
    Department of Pediatric and Adolescent Medicine Division of Cardiovascular Disease, Mayo Clinic College of Medicine, Rochester, Minn, USA
    Circulation 110:2119-24. 2004
    ..We hypothesize that mimickers of concealed LQT1, namely catecholaminergic polymorphic ventricular tachycardia (CPVT), may also underlie swimming-triggered cardiac events...
  96. ncbi The KCNE2 potassium channel ancillary subunit is essential for gastric acid secretion
    Torsten K Roepke
    Greenberg Division of Cardiology, Department of Medicine, Cornell University, Weill Medical College, New York, New York 10021, USA
    J Biol Chem 281:23740-7. 2006
    ..b>KCNE2 (also known as MiRP1) is expressed in the heart, is associated with human cardiac arrhythmia, and modulates ..
  97. ncbi N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome
    Seiko Ohno
    Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
    Heart Rhythm 4:332-40. 2007
    ..The MinK protein is a cardiac K-channel accessory subunit encoded by the KCNE1 gene, mutations of which are associated with the LQT5 form of LQTS.
  98. ncbi KCNE beta subunits determine pH sensitivity of KCNQ1 potassium channels
    Dirk Heitzmann
    Institute of Physiology, University of Regensburg
    Cell Physiol Biochem 19:21-32. 2007
    ..They are modulated by pH in a complex way: homomeric KCNQ1 is inhibited by external acidification (low pH(e)); KCNE2/KCNQ1 is activated; and for KCNE1/KCNQ1, variable effects have been reported.
  99. ncbi Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing
    David J Tester
    Department of Molecular Pharmacology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 3:800-5. 2006
    ..Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel and in CASQ2-encoded calsequestrin cause catecholaminergic polymorphic ventricular tachycardia (CPVT1 and CPVT2, respectively)...
  100. pmc LQTS gene LOVD database
    Tao Zhang
    James D Watson Institute of Genome Sciences, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China
    Hum Mutat 31:E1801-10. 2010
    ..is mainly caused by mutations in genes encoding subunits of cardiac ion channels (KCNQ1, KCNH2,SCN5A, KCNE1, and KCNE2)...
  101. ncbi Postmortem long QT syndrome genetic testing for sudden unexplained death in the young
    David J Tester
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minnesota 55905 0001, USA
    J Am Coll Cardiol 49:240-6. 2007
    ..This study sought to determine the spectrum and prevalence of long QT syndrome (LQTS)-associated mutations in a large cohort of autopsy-negative sudden unexplained death (SUD)...

Research Grants70

  1. Neonatal Long QT Syndrome and Sudden Infant Death
    ALFRED GEORGE; Fiscal Year: 2007
    ..The complete coding regions and splice site sequences of KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and coding exons of other candidate genes will be surveyed for variants in four populations, two large SIDS ..
  2. Neonatal Long QT Syndrome and Sudden Infant Death
    ALFRED GEORGE; Fiscal Year: 2009
    ..The complete coding regions and splice site sequences of KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and coding exons of other candidate genes will be surveyed for variants in four populations, two large SIDS ..
  3. Neonatal Long QT Syndrome and Sudden Infant Death
    Alfred L George; Fiscal Year: 2010
    ..The complete coding regions and splice site sequences of KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and coding exons of other candidate genes will be surveyed for variants in four populations, two large SIDS ..
  4. Modulation of cardiac K+ channels by drugs
    Michael Sanguinetti; Fiscal Year: 2004
    ..role of the inactivated state in drug block of HERG channels, and how binding of accessory beta-subunits (minK, MiRP1 and MiRP2) enhances drug block of HERG and KvLQT1 channels...
  5. Long QT Syndrome: Population, Genetic & Cardiac Studies
    Arthur Moss; Fiscal Year: 2006
    ..Presently, over 300 mutations on 6 ion-channel genes (KCNQ1, HERG, SCNhA, minK, MIRP1, and KCNJ2) have been identified in LQTS...
  6. Cardiac KCNE2 (MIRP1) Regulation by Estrogen and Cardiac Stress
    Mansoureh Eghbali; Fiscal Year: 2010
    b>KCNE2 is a single transmembrane modulatory subunit that in heterologous systems can modulate a variety of K channel pore-forming 1 subunits including Kv4.2 and Kv4...
  7. Cardiac KCNE2 (MIRP1) Regulation by Estrogen and Cardiac Stress
    Mansoureh Eghbali; Fiscal Year: 2009
    b>KCNE2 is a single transmembrane modulatory subunit that in heterologous systems can modulate a variety of K channel pore-forming 1 subunits including Kv4.2 and Kv4...
  8. Cardiac KCNE2 (MIRP1) Regulation by Estrogen and Cardiac Stress
    Mansoureh Eghbali; Fiscal Year: 2009
    b>KCNE2 is a single transmembrane modulatory subunit that in heterologous systems can modulate a variety of K channel pore-forming 1 subunits including Kv4.2 and Kv4...
  9. MinK-related peptides(MiRPs): structure and function
    Steve Goldstein; Fiscal Year: 2004
    ..This allowed isolation of the genes for MiRP1, MiRP2 and MIRP3...
  10. Role of KVS and MPS Subunits in Basic Neuronal Function
    Federico Sesti; Fiscal Year: 2007
    ..MPS- 1 which shares significant homology with cardiac human MiRP1 and MiRP3 (further underscoring the importance of C...
  11. Role of KVS and MPS Subunits in Basic Neuronal Function
    Federico Sesti; Fiscal Year: 2007
    ..MPS- 1 which shares significant homology with cardiac human MiRP1 and MiRP3 (further underscoring the importance of C...
  12. Ion channelopathies co-expressed in heart and brain
    Alica Goldman; Fiscal Year: 2007
    ..Seven LQT loci and six LQT genes (SCN5A, KvLQT1, HERG, KCNE1, KCNE2, KCNJ2) have been identified...
  13. Molecular Pathways of Heart K Channel Regulation
    Enrico Stefani; Fiscal Year: 2006
    ..g. Kvl.4, Kv4.2, Kv4.3, KChlP2, MiRP1, frequenin) in a genomic or non-genomic fashion. Preliminary Studies show that: (a) cardiac Kv4.3, Kvl...
  14. Molecular Pathways of Heart K Channel Regulation
    Enrico Stefani; Fiscal Year: 2003
    ..g. Kvl.4, Kv4.2, Kv4.3, KChlP2, MiRP1, frequenin) in a genomic or non-genomic fashion. Preliminary Studies show that: (a) cardiac Kv4.3, Kvl...
  15. MOLECULAR BASIS FOR Kv CHANNEL HETEROGENEITY IN THE HEART
    Gea Ny Tseng; Fiscal Year: 2010
    ..Transcripts of other members of the KCNE family (KCNE2 - KCNE5) have been detected in human heart, and in heterologous expression systems these KCNE subunits can all ..
  16. MOLECULAR BASIS FOR Kv CHANNEL HETEROGENEITY IN THE HEART
    Gea Ny Tseng; Fiscal Year: 2009
    ..Transcripts of other members of the KCNE family (KCNE2 - KCNE5) have been detected in human heart, and in heterologous expression systems these KCNE subunits can all ..
  17. K CHANNELS: STRUCTURE-FUNCTION RELATION AND MODULATION
    Gea Ny Tseng; Fiscal Year: 2006
    ..2 and Kv1.4 (transient outward, Ito, channels). We have also studied the roles of a promiscuous auxiliary subunit, KCNE2, in the function of Ito and IKs (slow delayed rectifier)...
  18. Regulation of Kv3.1 by MiRPs in Auditory Neurons
    GEOFFREY ABBOTT; Fiscal Year: 2006
    ..Further, MiRP2 and related subunits MinK and MiRP1 modify Kv3...
  19. K+ Channel Trafficking and Modulation by Mink and MiRP1
    Geoffrey W Abbott; Fiscal Year: 2010
    ..Following our previous findings that KCNE2 mutations associate with inherited and acquired human ventricular arrhythmias, more recently we generated the ..
  20. K+ channel trafficking and modulation in MinK and MiRP1
    GEOFFREY ABBOTT; Fiscal Year: 2009
    ..Knowledge of the diverse functions that MiRPs subserve in Kv channel complexes will aid in efforts to understand, treat and avoid inherited and acquired disorders of cardiac electrical function. ..
  21. K+ channel trafficking and modulation in MinK and MiRP1
    GEOFFREY ABBOTT; Fiscal Year: 2009
    ..Knowledge of the diverse functions that MiRPs subserve in Kv channel complexes will aid in efforts to understand, treat and avoid inherited and acquired disorders of cardiac electrical function. ..
  22. MODIFIABLE RISK FACTORS FOR SUDDEN DEATH IN MEN/WOMEN
    Christine Albert; Fiscal Year: 2002
    ..At the end of the proposed research program, Dr. Albert will have attained advanced epidemiologic skills which can then be applied to independent research in her chosen subspecialty of electrophysiology. ..
  23. PRE-DETERMINE: Biologic Markers and MRI SCD Cohort Study
    Alan H Kadish; Fiscal Year: 2010
    ....
  24. TRIGGERS OF VENTRICULAR ARRHYTHMIAS (TOVA) STUDY
    Christine Albert; Fiscal Year: 2002
    ..Characterization of triggering of ICD discharge will provide insights valuable for prevention of sudden death due to primary arrhythmias in the general population. ..
  25. PRE-DETERMINE: Biologic Markers and MRI SCD Cohort Study
    Christine Albert; Fiscal Year: 2009
    ....
  26. Genetic Determinants of Sudden Cardiac Death
    Christine Albert; Fiscal Year: 2006
    ..Mutations in cardiac ion channel genes including SCN5A, KVLQT1, HERG, KCNE1, KCNE2, and RyR2 have been implicated in monogenic traits with a high risk of SCD, such as the Iong-QT, Brugada, sudden ..
  27. Modifiable Determinants of Ventricular Arrythmias
    Christine Albert; Fiscal Year: 2007
    ....
  28. The Gastric Biology of Helicobacter Pylori
    George Sachs; Fiscal Year: 2010
    ..A better understanding of effects of acid inhibition on H. pylori may allow improvement or replacement of triple therapy for eradication. ..
  29. Cardiac Channel Mutations in Sudden Infant Death Syndrome (SIDS)
    MICHAEL JOHN ACKERMAN; Fiscal Year: 2010
    ....
  30. Cardiac Channel Mutations in SIDS
    Michael Ackerman; Fiscal Year: 2005
    ..Such a discovery could have significant implications on attempts to further reduce the incidence of SIDS in our country and throughout the world. ..
  31. Cardiac Channel Mutations in Sudden Infant Death Syndrome (SIDS)
    Michael Ackerman; Fiscal Year: 2007
    ....