KCNE2

Summary

Gene Symbol: KCNE2
Description: potassium voltage-gated channel subfamily E regulatory subunit 2
Alias: ATFB4, LQT5, LQT6, MIRP1, potassium voltage-gated channel subfamily E member 2, cardiac voltage-gated potassium channel accessory subunit 2, minK-related peptide-1, minimum potassium ion channel-related peptide 1, potassium channel subunit beta MiRP1, potassium channel subunit, MiRP1, potassium channel, voltage gated subfamily E regulatory beta subunit 2, potassium voltage-gated channel, Isk-related family, 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 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
  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. 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
  5. 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
  6. pmc Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation
    Yiqing Yang
    Department of Cardiology, Tongji Hospital, Shanghai, China
    Am J Hum Genet 75:899-905. 2004
  7. ncbi Probing the interaction between KCNE2 and KCNQ1 in their transmembrane regions
    Xian Sheng Liu
    Department of Physiology, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA 23298, USA
    J Membr Biol 216:117-27. 2007
  8. pmc Dynamic partnership between KCNQ1 and KCNE1 and influence on cardiac IKs current amplitude by KCNE2
    Min Jiang
    Department of Physiology and Biophysics, Virginia Commonwealth University, Richmond, Virginia 23298, USA
    J Biol Chem 284:16452-62. 2009
  9. 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
  10. doi Expression, purification, detergent screening and solution NMR backbone assignment of the human potassium channel accessory subunit MiRP1
    Liu Chen
    Hefei National Laboratory for Physical Science at Microscale and School of Life Science, University of Science and Technology of China, Hefei, Anhui, PR China
    Protein Expr Purif 76:205-10. 2011

Research Grants

  1. Cardiac KCNE2 (MIRP1) Regulation by Estrogen and Cardiac Stress
    Mansoureh Eghbali; Fiscal Year: 2012
  2. Geoffrey W Abbott; Fiscal Year: 2015
  3. Jeanne M Nerbonne; Fiscal Year: 2015
  4. Role of KVS and MPS Subunits in Basic Neuronal Function
    Federico Sesti; Fiscal Year: 2007
  5. MOLECULAR BASIS FOR Kv CHANNEL HETEROGENEITY IN THE HEART
    Gea Ny Tseng; Fiscal Year: 2010
  6. Gea Ny Tseng; Fiscal Year: 2015
  7. Molecular Pathways of Heart K Channel Regulation
    Enrico Stefani; Fiscal Year: 2006
  8. MinK-related peptides(MiRPs): structure and function
    Steve Goldstein; Fiscal Year: 2004
  9. K CHANNELS: STRUCTURE-FUNCTION RELATION AND MODULATION
    Gea Ny Tseng; Fiscal Year: 2006
  10. Regulation of Kv3.1 by MiRPs in Auditory Neurons
    GEOFFREY ABBOTT; Fiscal Year: 2006

Detail Information

Publications164 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 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...
  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. 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...
  5. 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.
  6. pmc Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation
    Yiqing Yang
    Department of Cardiology, Tongji Hospital, Shanghai, China
    Am J Hum Genet 75:899-905. 2004
    ..28 unrelated Chinese kindreds with AF and sequenced eight genes of potassium channels (KCNQ1, HERG, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, and KCNJ2)...
  7. ncbi Probing the interaction between KCNE2 and KCNQ1 in their transmembrane regions
    Xian Sheng Liu
    Department of Physiology, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA 23298, USA
    J Membr Biol 216:117-27. 2007
    ..Other than the KCNQ1/KCNE1 complex, little is known about how KCNE proteins work. We focus on KCNE2, which associates with KCNQ1 to form K channels critical for gastric acid secretion in parietal cells...
  8. pmc Dynamic partnership between KCNQ1 and KCNE1 and influence on cardiac IKs current amplitude by KCNE2
    Min Jiang
    Department of Physiology and Biophysics, Virginia Commonwealth University, Richmond, Virginia 23298, USA
    J Biol Chem 284:16452-62. 2009
    ..Although KCNE1 is an obligate IKs component that confers the uniquely slow gating kinetics, KCNE2 is also expressed in human heart...
  9. 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...
  10. doi Expression, purification, detergent screening and solution NMR backbone assignment of the human potassium channel accessory subunit MiRP1
    Liu Chen
    Hefei National Laboratory for Physical Science at Microscale and School of Life Science, University of Science and Technology of China, Hefei, Anhui, PR China
    Protein Expr Purif 76:205-10. 2011
    b>MiRP1 (MinK related protein 1) is a membrane protein in the KCNE family. It can associate with and modulate various voltage gated potassium channels...
  11. 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...
  12. 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
    ....
  13. 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, ..
  14. 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 ..
  15. 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...
  16. 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...
  17. 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)...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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...
  24. 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 ..
  25. 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 ..
  26. 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...
  27. 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...
  28. 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, ..
  29. 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...
  30. 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...
  31. 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...
  32. 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...
  33. 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 ..
  34. 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 ..
  35. 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...
  36. 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...
  37. 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...
  38. 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...
  39. 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...
  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 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...
  42. 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)...
  43. 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...
  44. 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...
  45. 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...
  46. 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 ..
  47. 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...
  48. 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...
  49. 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...
  50. ncbi N-Glycosylation-dependent block is a novel mechanism for drug-induced cardiac arrhythmia
    Ki Ho Park
    University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, Department of Physiology and Biophysics, Piscataway, NJ 08854, USA
    FASEB J 17:2308-9. 2003
    ..potassium channels formed with the cardiac subunit HERG and a polymorphic variant of MinK-related peptide 1 (MiRP1) exhibit increased susceptibility to the antibiotic sulfamethoxazole (SMX) compared with channels formed with wild-..
  51. ncbi Local anaesthetic sensitivities of cloned HERG channels from human heart: comparison with HERG/MiRP1 and HERG/MiRP1 T8A
    P Friederich
    Department of Anaesthesiology, University Hospital Hamburg Eppendorf, Martinistr 52, D 20251 Hamburg, Germany
    Br J Anaesth 92:93-101. 2004
    ..The effects of amide local anaesthetics on HERG channels co-expressed with the putative subunit MiRP1 have not been established...
  52. doi Altered gene expression may underlie prolonged duration of the QT interval and ventricular action potential in streptozotocin-induced diabetic rat heart
    F C Howarth
    Department of Physiology, UAE University, Al Ain, UAE
    Mol Cell Biochem 328:57-65. 2009
    ..The mRNA expression for Kcnd2 (I (to) channel) and Kcne2 (I (kr) channel) was significantly reduced in diabetic rats compared to controls...
  53. 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...
  54. doi Effects of KCNE2 on HCN isoforms: distinct modulation of membrane expression and single channel properties
    Mathias C Brandt
    Department of Internal Medicine III, University of Cologne, Cologne, Germany
    Am J Physiol Heart Circ Physiol 297:H355-63. 2009
    ..b>KCNE2 has been proposed to serve as a beta-subunit of HCN channels; however, available data remain contradictory...
  55. doi Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?
    Sarah E Heron
    SA Pathology at Women s and Children s Hospital, North Adelaide, SA, Australia
    Epilepsia 51:293-6. 2010
    ..A previously described mutation and a known rare variant were found in the LQTS-associated genes SCN5A and KCNE2. Both are expressed in the brain, and although mutations have not been associated with epilepsy, we propose a ..
  56. pmc KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders
    Jie Wu
    Pharmacology Department, Medical School of Xi an Jiaotong University Xi an, Shaanxi, China
    Heart Rhythm 7:199-205. 2010
    The transient outward current I(to) is of critical importance in regulating myocardial electrical properties during the very early phase of the action potential. The auxiliary beta subunit KCNE2 recently was shown to modulate I(to).
  57. 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)...
  58. pmc Cortactin is required for N-cadherin regulation of Kv1.5 channel function
    Lan Cheng
    Center for Translational Medicine, Department of Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 286:20478-89. 2011
    ..5 and Kv accessory protein, Kcne2, in the N-cad CKO myocytes. The decreased Kv1...
  59. pmc KCNE2 forms potassium channels with KCNA3 and KCNQ1 in the choroid plexus epithelium
    Torsten K Roepke
    Department of Pharmacology, Weill Cornell Medical College, 1300 York Ave, New York, NY 10021, USA
    FASEB J 25:4264-73. 2011
    ..Previously, the heteromeric KCNQ1-KCNE2 K(+) channel was functionally linked to epithelial processes including gastric acid secretion and thyroid hormone ..
  60. pmc Targeted deletion of Kcne2 impairs HCN channel function in mouse thalamocortical circuits
    Shui Wang Ying
    Department of Anesthesiology, Weill Cornell Medical College, New York, New York, United States of America
    PLoS ONE 7:e42756. 2012
    ..b>KCNE2 is a voltage-gated potassium channel ancillary subunit that also regulates heterologously expressed HCN channels; ..
  61. pmc Long QT syndrome in South Africa: the results of comprehensive genetic screening
    Paula L Hedley
    US MRC Centre for Molecular and Cellular Biology, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, University of Stellenbosch, South Africa
    Cardiovasc J Afr 24:231-7. 2013
    ..A341V in KCNQ1) was established by screening for mutations in the coding regions of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A, the most frequently implicated cLQTS-causing genes (five-gene screening)...
  62. doi KCNE2 modulates cardiac L-type Ca(2+) channel
    Wenjuan Liu
    Department of Pathophysiology, School of Medicine, Shenzhen University, Shenzhen 518060, China
    J Mol Cell Cardiol 72:208-18. 2014
    b>KCNE2 plays an important role in maintaining cardiac electrical stability. Mutations in KCNE2 have been linked to long-QT syndrome (LQT6) and atrial fibrillation/short QT syndrome...
  63. pmc The KCNE2 K⁺ channel regulatory subunit: Ubiquitous influence, complex pathobiology
    Geoffrey W Abbott
    Bioelectricity Laboratory, Dept of Pharmacology, School of Medicine, University of California, Irvine, CA, USA Dept of Physiology and Biophysics, School of Medicine, University of California, Irvine, CA, USA Electronic address
    Gene 569:162-72. 2015
    ..b>KCNE2 has been widely studied since we first discovered one of its roles in the heart and its association with inherited ..
  64. pmc Molecular Cloning and Functional Expression of the Equine K+ Channel KV11.1 (Ether à Go-Go-Related/KCNH2 Gene) and the Regulatory Subunit KCNE2 from Equine Myocardium
    Philip Juul Pedersen
    Department of Veterinary Clinical and Animal Science, Faculty of Health and Medical Sciences, University of Copenhagen, Frederiksberg C, Denmark
    PLoS ONE 10:e0138320. 2015
    The KCNH2 and KCNE2 genes encode the cardiac voltage-gated K+ channel KV11.1 and its auxiliary β subunit KCNE2. KV11.1 is critical for repolarization of the cardiac action potential...
  65. pmc An individualized prognostic signature for gastric cancer patients treated with 5-Fluorouracil-based chemotherapy and distinct multi-omics characteristics of prognostic groups
    Xiangyu Li
    Department of Bioinformatics, Key laboratory of Ministry of Education for Gastrointestinal Cancer, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, China
    Oncotarget 7:8743-55. 2016
    ..with drug sensitivity data and two cohorts of patients, we extracted a signature consisting of two gene pairs (KCNE2 and API5, KCNE2 and PRPF3) whose within-sample relative expression orderings (REOs) could robustly predict ..
  66. pmc Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2
    Li Liu
    Department of Cardiology, General Hospital of People s Liberation ArmyBeijing, China The Third Department of Internal Medicine, Beijing Municipal Corps Hospital of Chinese People s Armed Police ForceBeijing, China
    Front Physiol 7:650. 2016
    ..As an accessory β subunit, KCNE2 promotes hERG migration from Golgi to cellular membrane...
  67. 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...
  68. 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, ..
  69. 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)...
  70. pmc Heteromeric KCNE2/KCNQ1 potassium channels in the luminal membrane of gastric parietal cells
    Dirk Heitzmann
    Institute of Physiology, Universitatsstrasse 31, 93053 Regensburg, Germany
    J Physiol 561:547-57. 2004
    ..Using in situ hybridization and immunofluorescence techniques, we identified KCNE2 as the beta subunit of KCNQ1 in the luminal membrane compartment of parietal cells...
  71. ncbi [Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients]
    Magnus R Dias da Silva
    Laboratório de Endocrinologia Molecular, Centro de Pesquisas do Genoma J F Perez, Departamento de Morfologia, Escola Paulista de Medicina, Universidade Federal de Sao Paulo, Sao Paulo, SP
    Arq Bras Endocrinol Metabol 48:196-215. 2004
    ..Furthermore, we identified other genetic polymorphisms in the CACNA1S, SCN4A, KCNE1, KCNE2, KCNE1L, KCNJ2, KCNJ8 e KCNJ11 genes...
  72. ncbi Molecular predictors of drug-induced prolongation of the QT interval
    Polychronis E Dilaveris
    Department of Cardiology, University of Athens Medical School, Hippokration Hospital, 22 Miltiadou Street, 155 61 Athens, Greece
    Curr Med Chem Cardiovasc Hematol Agents 3:105-18. 2005
    ..Co-assembly of HERG (human-ether-a-go-go-related gene) alpha-subunits and MiRP1 (MinK-related peptide 1) beta-subunits recapitulate the behavior of native human IKr, and the majority of ..
  73. 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...
  74. doi Anti-arrhythmic effects of cyclopiazonic acid in Langendorff-perfused murine hearts
    Nina S Ghais
    Physiological Laboratory, University of Cambridge, Downing Street, Cambridge CB2 3EG, UK
    Prog Biophys Mol Biol 98:281-8. 2008
    ..This was in sharp contrast to previous observations in murine, DeltaKPQ-Scn5a (LQT3) and KCNE1(-/-) (LQT5), systems where re-entry has been implicated in arrhythmogenesis.
  75. 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 ..
  76. ncbi Additive effect of multiple genetic variants on the risk of coronary artery disease
    Carla Lluís-Ganella
    Grupo de Epidemiología y Genética Cardiovascular ULEC, Institut Municipal d Investigacio Medica, Hospital del Mar, Barcelona, Espana
    Rev Esp Cardiol 63:925-33. 2010
    ..The objective of this study was to evaluate the magnitude of the association between a genetic risk score, which is based on the accumulated number of risk alleles in all genetic variants of interest, and the presence of CAD...
  77. pmc A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses
    Samuli Ripatti
    Institute for Molecular Medicine Finland FIMM, University of Helsinki, Helsinki, Finland mm fi
    Lancet 376:1393-400. 2010
    ..We aimed to establish the external validity of these findings and to obtain more precise risk estimates using a prospective cohort design...
  78. doi Identification of estradiol/ERα-regulated genes in the mouse pituitary
    Hyun Joon Kim
    Division of Reproductive Sciences, Department of Clinical Sciences, University of Kentucky, Lexington, KY 40536, USA
    J Endocrinol 210:309-21. 2011
    ..Subsequent characterization of six selected genes (Cacna1a, Cacna1g, Cited1, Abep1, Opn3, and Kcne2) confirmed not only ERα dependency for their pituitary expression but also the significance of their expression ..
  79. pmc Probing the structural basis for differential KCNQ1 modulation by KCNE1 and KCNE2
    Yuhong Wang
    Department of Physiology and Biophysics, Virginia Commonwealth University, Richmond, VA 23298, USA
    J Gen Physiol 140:653-69. 2012
    ..b>KCNE2 is also expressed in human heart and can associate with KCNQ1 to suppress its current amplitude and slow the ..
  80. pmc Kcne2 deletion causes early-onset nonalcoholic fatty liver disease via iron deficiency anemia
    Soo Min Lee
    Bioelectricity Laboratory, Dept of Pharmacology and Dept of Physiology and Biophysics, School of Medicine, University of California, Irvine, CA, USA
    Sci Rep 6:23118. 2016
    ..Mice with germline deletion of the KCNE2 potassium channel β subunit exhibited NAFLD as early as postnatal day 7...
  81. 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...
  82. 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...
  83. 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)...
  84. 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...
  85. 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.
  86. 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).
  87. 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)...
  88. 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...
  89. 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 ..
  90. 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...
  91. 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...
  92. 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...
  93. 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...
  94. 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...
  95. 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.
  96. 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...
  97. 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...
  98. 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...
  99. ncbi Pharmacology of cardiac potassium channels
    Juan Tamargo
    Department of Pharmacology, School of Medicine, Universidad Complutense, 28040 Madrid, Spain
    Cardiovasc Res 62:9-33. 2004
    ..In addition, mutations in the genes encoding IKr (KCNH2/KCNE2) and IKs (KCNQ1/KCNE1) channels have been identified in some types of the congenital long QT syndrome...
  100. ncbi Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland
    Heidi Fodstad
    Research Program in Molecular Medicine, Biomedicum Helsinki, Finland
    Ann Med 36:53-63. 2004
    Mutations in five cardiac voltage-gated ion channel genes, including KCNQ1, HERG, SCN5A, KCNE1 and KCNE2, constitute the principal cause of inherited long-QT syndrome (LQTS)...
  101. ncbi Protein levels of genes encoded on chromosome 21 in fetal Down Syndrome brain (Part V): overexpression of phosphatidyl-inositol-glycan class P protein (DSCR5)
    R Ferrando-Miguel
    Department of Pediatrics, Division Basic Sciences, University of Vienna, Vienna, Austria
    Amino Acids 26:255-61. 2004
    ..2, GIRK2, KCNE1 and KCNE2 in fetal cortex brain of DS and controls at the early second trimester of pregnancy by Western blotting...

Research Grants21

  1. Cardiac KCNE2 (MIRP1) Regulation by Estrogen and Cardiac Stress
    Mansoureh Eghbali; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): KCNE2 is a single transmembrane modulatory [unreadable] subunit that in heterologous systems can modulate a variety of K channel pore-forming 1 subunits including Kv4.2 and Kv4...
  2. Geoffrey W Abbott; Fiscal Year: 2015
    ..Following our previous findings that KCNE2 mutations associate with inherited and acquired human ventricular arrhythmias, more recently we generated the ..
  3. Jeanne M Nerbonne; Fiscal Year: 2015
    ..The goals of the studies here are to define the physiological roles of the KChIP2, DPP6, MiRP1 and MiRP2 accessory subunits and of Ca2+/calmodulin- dependent protein kinase II (CaMKII)-mediated phosphorylation ..
  4. 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...
  5. 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 ..
  6. Gea Ny Tseng; Fiscal Year: 2015
    ..We have shown that another KCNE subunit expressed in human heart, KCNE2, is colocalized with KCNQ1 &KCNE1 in adult cardiac myocytes...
  7. 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...
  8. MinK-related peptides(MiRPs): structure and function
    Steve Goldstein; Fiscal Year: 2004
    ..This allowed isolation of the genes for MiRP1, MiRP2 and MIRP3...
  9. 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)...
  10. Regulation of Kv3.1 by MiRPs in Auditory Neurons
    GEOFFREY ABBOTT; Fiscal Year: 2006
    ..Further, MiRP2 and related subunits MinK and MiRP1 modify Kv3...
  11. 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. ..
  12. 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 ..
  13. Modifiable Determinants of Ventricular Arrythmias
    Christine Albert; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  14. 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. ..
  15. GASTRIC ENTEROCHROMAFFIN-LIKE CELL IN ULCER DISEASE
    George Sachs; Fiscal Year: 2005
    ..Hence this approach will provide additional insights into mechanisms of regulation of gastric secretion and enable illuminated interpretation of the pathophysiology of peptic ulcer disease. ..
  16. High-Speed, Depth-Resolved Images of Cardiac physiology
    Guy Salama; Fiscal Year: 2007
    ..We focus here on the heart because therein lie salient problems that are ready to be addressed by this new technology. However, the wide range of possible applications may lead to the commercialization of this new technology. ..
  17. THE GASTRIC ACID PUMP AS A TARGET FOR ULCER TREATMENT
    George Sachs; Fiscal Year: 2009
    ..The results of the proposed research will further improve the agents used for the treatment of acid-related diseases and also our knowledge of the ATPase and cellular events involved in regulation of its activity. ..
  18. Factors that Initiate Arrhythamias in Long QT Syndrome
    Guy Salama; Fiscal Year: 2006
    ..Stimulation paradigms that i) enhance DOR or ii) elicit a bradycardia followed by a tachycardia are more likely to increase the incidence of EADs or TdP. ..
  19. Multidisciplinary Study of Right Ventricular Dysplasia
    Jeffrey Towbin; Fiscal Year: 2005
    ..This integrated research grant proposal offers a substantial prospect of expanding the fund of clinical knowledge regarding ARVD and of localizing the gene(s) responsible for this disorder. ..
  20. Gender-Differences in Cardiac Repolarization/Arrhythmias
    Guy Salama; Fiscal Year: 2005
    ..abstract_text> ..
  21. MECHANISMS OF REPOLARIZATION-INDUCED ARRHYTHMIAS
    Guy Salama; Fiscal Year: 2002
    ..abstract_text> ..