| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.6891617 |
| KCNE 2 ( also known as MiRP 1 ) is expressed in the heart , is associated with human cardiac arrhythmia , and modulates cardiac Kv alpha subunits hERG and KCNQ 1 in vitro . 0.6891617^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.57649124 |
| MinK and MiRP 1 are single transmembrane domain peptides that can co assemble with hERG in heterologous systems . 0.57649124^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| KVLQT 1 , HERG , SCN5A , KCNE 1 , and KCNE 2 . ^^^ Five genes have been implicated in Romano Ward syndrome , the autosomal dominant form of LQTS : KVLQT 1 , HERG , SCN5A , KCNE 1 , and KCNE 2 . ^^^ CONCLUSIONS : KVLQT 1 ( 42 % ) and HERG ( 45 % ) accounted for 87 % of identified mutations , and SCN5A ( 8 % ) , KCNE 1 ( 3 % ) , and KCNE 2 ( 2 % ) accounted for the other 13 % . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The gene encodes MinK related peptide 1 ( MiRP 1 ) , a small integral membrane subunit that assembles with HERG , a pore forming protein , to alter its function . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Coassembly of HERG ( human ether a go go related gene ) alpha subunits and MiRP 1 ( MinK related peptide 1 ) beta subunits recapitulate the behavior of native human IKr and mutations of HERG and MiRP 1 decrease the repolarizing current , delay ventricular repolarization and prolong the QT . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| HERG forms voltage gated K channels that may be associated with Mink related peptide 1 ( MiRP 1 ) , an auxiliary beta subunit . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Voltage gated potassium channels formed with the cardiac subunit HERG and a polymorphic variant of MinK related peptide 1 ( MiRP 1 ) exhibit increased susceptibility to the antibiotic sulfamethoxazole ( SMX ) compared with channels formed with wild type ( WT ) subunits . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Co assembly of HERG ( human ether a go go related gene ) alpha subunits and MiRP 1 ( MinK related peptide 1 ) beta subunits recapitulate the behavior of native human IKr , and the majority of mutations of HERG and MiRP 1 decrease the repolarizing current , delay ventricular repolarization and prolong the QT . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Fire genes , KCNQ 1 , HERG , SCN5A , KCNE 1 , and KCNE 2 , have been identified . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| KCNE 2 ( MirP 1 ) is a single transmembrane domain subunit first described to be a modulator of the HERG potassium channel in the heart . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| So far , KCNE 2 ( MirP 1 ) has only been shown to modulate HERG current . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE 2 . ^^^ The presence of KCNE 2 , an accessory protein that associates with HERG , however , conferred a partially dominant current suppression by CNBD mutants . ^^^ Thus KCNE 2 plays a pivotal role in determining the phenotypic severity of some forms of LQT 2 , which suggests that the CNBD of HERG may be involved in its interaction with KCNE2 . . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Mutations in any of the five genes KCNQ 1 , KCNH 2 , KCNE 1 , KCNE 2 , and SCN5A can be responsible for familial long QT syndrome ( LQTS ) , an arrhythmogenic disorder that entails a high risk of sudden death . beta Adrenergic blocking agents are the first therapeutic choice , and 80 % of patients treated with these agents show symptomatic relief ; however the remaining 20 % do not respond well . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Finally , genetic studies were performed prospectively in 16 consecutive patients , to look for HERG , KCNE 1 , KCNE 2 and KCNQ 1 mutations . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Heterozygous mutations in genes encoding cardiac ionic channel subunits KCNQ 1 , HERG , SCN5A , KCNE 1 , and KCNE 2 are causally involved in the dominant form of long QT syndrome ( LQTS ) while homozygous mutations in KCNQ 1 and KCNE 1 cause LQTS with or without congenital deafness . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Screening for mutations and polymorphisms in the genes KCNH 2 and KCNE 2 encoding the cardiac HERG / MiRP1 ion channel : implications for acquired and congenital long Q T syndrome . ^^^ BACKGROUND : The voltage gated , rapid delayed rectifier current ( 1 ( Kr ) ) is important for repolarization of the heart , and mutations in the genes coding for the K+ ion channel conducting this current , i . e . , KCNH 2 for the alpha subunit HERG and KCNE 2 for the beta subunit MiRP 1 , cause acquired and congenital long Q T syndrome ( LQTS ) and other cardiac arrhythmias . ^^^ METHODS : We developed a robust single strand conformation polymorphism heteroduplex screening analysis , with identical thermocycling conditions for all PCR reactions , covering all of the coding exons in KCNH 2 and KCNE 2 . ^^^ Furthermore , four novel single nucleotide polymorphisms ( SNPs ) and one amino acid polymorphism ( R1047L ) were identified in KCNH 2 , and one novel SNP and one previously known amino acid polymorphism ( T8A ) were found in KCNE 2 . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The slow ( 1 ( Ks ) ) and fast ( 1 ( Kr ) ) components of the delayed rectifier cardiac K ( + ) current are generated by pore forming alpha subunits KCNQ 1 and KCNH 2 , respectively , in association with regulatory beta subunit KCNE 1 , KCNE 2 and perphaps KCNE 3 . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Mutations in KCNQ 1 , KCNH 2 , KCNE 1 , KCNE 2 , and SCN5A genes encoding cardiac potassium and sodium ion channels cause LQT . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| In horse heart , we have used immunoblotting and immunostaining to demonstrate the expression of ERG 1 , KCNQ 1 , KCNE 1 , and KCNE 3 proteins and RT PCR to detect KCNE 2 message . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Heterozygous mutations in KCNQ 1 , HERG , SCN5A , KCNE 1 and KCNE 2 genes are responsible for the dominant form without deafness whereas homozygous mutations in KCNQ 1 and KCNE 1 are responsible for the recessive form ( Jervell and Lange Nielsen syndrome ) associated with congenital deafness . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Speed and sensitivity of mutation detection was improved by applying the denaturing high performance liquid chromatography ( DHPLC ) technique for analysis of the entire KCNQ 1 and KCNH 2 genes and the protein encoding part of the KCNE 1 and KCNE 2 genes . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| LQTS is caused by mutations in ion channel genes including the cardiac sodium channel gene SCN5A , and potassium channel subunit genes KCNQ 1 , KCNH 2 , KCNE 1 , and KCNE 2 . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| To date , 6 loci have been identified with the genes responsible for the forms LQT 1 , LQT 2 , LQT 5 and LQT 6 , coding for the potassium channels ( KCNQ 1 , HERG , KCNE 1 and KCNE 2 , respectively ) which , in the heterozygote state , are responsible for the main forms of LQTS without deafness and , in the homozygote state ( KCNQ 1 and KCNE 1 ) for the recessive forms of LQTS with or without deafness . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Multiple mutations in several ion channel genes ( KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 , KCNE 2 , and KCNJ 2 ) have been shown to cause autosomal dominant long QT syndrome ( LQTS ) , a familial cardiac disorder that causes syncope , seizures , and sudden death . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| SUBJECTS AND METHODS : Genomic DNA from 744 apparently healthy individuals 305 black , 187 white , 134 Asian , and 118 Hispanic was subject to a comprehensive mutational analysis of the 4 LQTS causing potassium channel genes : KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) . ^^^ RESULTS : Overall , 49 distinct amino acid altering variants ( 36 novel ) were identified : KCNQ 1 ( n = 16 ) , KCNH 2 ( n = 25 ) , KCNE 1 ( n = 5 ) , and KCNE 2 ( n = 3 ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Genetic variations of KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 , and KCNE 2 in drug induced long QT syndrome patients . ^^^ Five cLQTS genes ( KCNH 2 , KCNQ 1 , SCN5A , KCNE 1 , KCNE 2 ) were thoroughly screened for genetic variations in 32 drug induced aLQTS patients with confirmed TdP and 32 healthy individuals . ^^^ Missense forme frust mutations were identified in four aLQTS patients : D85N in KCNE 1 ( two cases ) , T8A in KCNE 2 , and P347S in KCNH 2 . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS AND RESULTS : Genetic analyses of KVLQT 1 , HERG , KCNE 1 , KCNE 2 , and SCN5A detected compound mutations in 20 of 252 LQTS probands ( 7 . 9 % ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : We performed analysis of KCNQ 1 ( KVLQT 1 ) , KCNH 2 ( HERG ) , SCN5A , KCNE 1 , and KCNE 2 defects in a subgroup of 12 adult subjects with unexplained sudden death , derived from a 13 year , 270 patient autopsy series of SCD . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| BACKGROUND : Mutations in five cardiac voltage gated ion channel genes , including KCNQ 1 , HERG , SCN5A , KCNE 1 and KCNE 2 , constitute the principal cause of inherited long QT syndrome ( LQTS ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Expression of the IKr components KCNH 2 ( rERG ) and KCNE 2 ( rMiRP 1 ) during late rat heart development . ^^^ To understand molecular mechanisms that regulate formation and maintenance of cardiac IKr ( rapidly activating component of the delayed rectifier K+ current ) , we have investigated the spatiotemporal expression pattern of two rat potassium voltage gated channels , namely subfamily H ( eag related ) , member 2 ( KCNH 2 ) ( alias name : rERG ) and Isk related family , member 2 ( KCNE 2 ) ( alias name : rMiRP 1 ) during late embryonic development by means of the in situ hybridization technique . ^^^ Transcription of the rat b subunit KCNE 2 is present in all regions of the fetal myocardium and co distributes perfectly with transcription of the pore forming a subunit KCNH 2 . ^^^ It seems likely that KCNH 2 and KCNE 2 are linked to form cardiac IKr channels , associated to cardiogenesis and cardiomyocyte excitability . . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We evaluated 28 unrelated Chinese kindreds with AF and sequenced eight genes of potassium channels ( KCNQ 1 , HERG , KCNE 1 , KCNE 2 , KCNE 3 , KCNE 4 , KCNE 5 , and KCNJ 2 ) . ^^^ Similar to KCNQ 1 S140G , the mutation had a gain of function effect on the KCNQ 1 KCNE2 channel ; unlike long QT syndrome associated KCNE 2 mutations , it did not alter HERG KCNE 2 current . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Comprehensive mutational analysis of the 5 LQTS causing channel genes , KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) , along with KCNJ 2 ( Andersen Tawil syndrome ) and targeted analysis of 18 CPVT 1 associated exons in RyR 2 , was performed with the use of denaturing high performance liquid chromatography and direct DNA sequencing . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Genetic studies have identified mutations in six ion channel genes , KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 and KCNE 2 and the accessory protein Ankyrin B gene , to be responsible for this disorder . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We screened a white population for single nucleotide polymorphisms ( SNPs ) in five long QT syndrome genes , namely , KCNQ 1 ( LQT 1 ) , HERG ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) . ^^^ Ten SNPs were in KCNE 1 , six in HERG , eight in KCNQ 1 , four in KCNE 2 , and seven in SCN5A . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| When HERG was co expressed with the accessory subunit KCNE 2 , an IC 50 value of 52 microM was determined . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Using a two step design we analyzed 174 SNPs from the KCNQ 1 , KCNH 2 , KCNE 1 , and KCNE 2 genes in 689 individuals from the population based KORA study and 14 SNPs with results suggestive of association in a confirmatory sample of 3277 individuals from the same survey . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| So far , six genes ( KCNQ 1 , HERG , SCN5A , ANK 2 , KCNE 1 , KCNE 2 ) have been demonstrated to be involved in the development of LQTS . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : A cardiac channel gene screen for LQTS causing mutations in KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) was performed for 541 consecutive , unrelated patients ( 358 females , average age at diagnosis 24 + / 16 years , average QTc 482 + / 57 ms ) referred to Mayo Clinic ' s Sudden Death Genomics Laboratory for LQTS genetic testing between August 1997 and July 2004 . ^^^ RESULTS : Overall , 211 putative pathogenic mutations in KCNQ 1 ( 88 ) , KCNH 2 ( 89 ) , SCN5A ( 32 ) , KCNE 1 ( 1 ) , and KCNE 2 ( 1 ) were found in 272 unrelated patients ( 50 % ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Loss of function in the slow component of the delayed rectifier potassium current ( 1 ( Ks ) ) channels ( KCNQ 1 , KCNE 1 ) , the rapid component of the potassium current ( 1 ( Kr ) ) channels ( KCNH 2 , KCNE 2 ) and the inward rectifier potassium current ( 1 ( Kl ) , Kir2 . 1 ) channel ( KCNJ 2 ) is linked to the LQTSs ( type 1 , 2 , 5 , 6 , and 7 ( Andersen syndrome ) ) and the JLNSs ( type 1 and 2 ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : Between August 1997 and July 2004 , 541 consecutive , unrelated patients ( 358 females , average age at diagnosis 24 years , average QTc 482 ms ) were referred to Mayo Clinic ' s Sudden Death Genomics Laboratory for comprehensive mutational analysis of the five cardiac channel genes implicated in LQTS : KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| DNA samples were screened for 10 missense mutations in 5 genes associated with the congenital long QT ( LQT ) syndrome ( KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 , KCNE 2 ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Blood samples submitted for molecular diagnostic studies on 7 infants were subject to DNA extraction and mutation analysis of 18 selected exons in 5 LQTS genes ( KCNQ 1 , HERG , SCN5A , KCNE 1 , and KCNE 2 ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The entire coding regions of KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 , and KCNE 2 were screened by denaturing high performance liquid chromatography and DNA sequencing . ^^^ RESULTS : We identified 235 different mutations , 138 of which were novel , in 310 ( 72 % ) of 430 probands ( 49 % KCNQ 1 , 39 % KCNH 2 , 10 % SCN5A , 1 . 7 % KCNE 1 , and 0 . 7 % KCNE 2 ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Genetic polymorphisms in KCNQ 1 , HERG , KCNE 1 and KCNE 2 genes in the Chinese , Malay and Indian populations of Singapore . ^^^ AIMS : To determine the genetic variability of long QT syndrome ( LQTS ) associated genes ( KCNQ 1 , HERG , KCNE 1 and KCNE 2 ) among three distinct ethnic groups in the Singapore population . ^^^ SNPs 356G > A ( exon 1 of KCNQ 1 ) , 2624C > T and 2893G > A ( exon 11 of HERG ) , 3164G > A , 3322C > G and 3460G > A ( exon 14 of HERG ) , and 79C > T ( exon 3 of KCNE 2 ) resulted in Gly119Asp , Thr875Met , Gly965Arg , Arg1055Gln , Leu1108Val , Gly1154Ser and Arg27Cys amino acid substitutions , respectively . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The general frequency dependent modulation of the channels was unaffected by both co expression of hKCNQ 1 and HERG 1 channels , and by the presence of the beta subunits KCNE 1 and KCNE 2 . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Eleven patients gave their consent to mutational analysis of KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 , KCNE 2 and KCNJ 2 genes ( associated with congenital long QT syndrome ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : Using denaturing high performance liquid chromatography and DNA sequencing , mutational analysis of 23 RyR 2 exons previously implicated in CPVT 1 , comprehensive analysis of all translated exons in CASQ 2 ( CPVT 2 ) , KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , KCNE 2 ( LQT 6 ) , and KCNJ 2 ( Andersen Tawil syndrome [ ATS 1 ] , also annotated LQT 7 ) , and analysis of 10 ANK 2 exons implicated in LQT 4 were performed on genomic DNA from 11 unrelated patients ( 8 females ) referred to Mayo Clinic ' s Sudden Death Genomics Laboratory explicitly for CPVT genetic testing . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : The published primers currently used by many research laboratories to conduct a comprehensive analysis of the 60 translated exons in the KCNQ 1 ( LQT 1 ) , KCNH 2 ( LQT 2 ) , SCN5A ( LQT 3 ) , KCNE 1 ( LQT 5 ) , and KCNE 2 ( LQT 6 ) genes were analyzed for the presence of common intronic single nucleotide polymorphisms ( SNPs ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We report the molecular pattern of 44 unrelated patients with LQTS using denaturing high performance liquid chromatography analysis of the KCNQ 1 , KCNH 2 , SCN5A , KCNE 1 and KCNE 2 genes . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| More than 35 mutations in four cardiac ion channel genes KVLQT 1 ( voltage gated K channel gene causing one of the autosomal dominant forms of LQTS ) ( LQT 1 ) , HERG ( human ether a go go related gene . ) ( LQT 2 ) , SCN5A ( LQT 3 ) , and KCNE 1 ( minK , LQT 5 ) have been identified in LQTS . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Four LQT genes have been identified : KVLQT 1 ( LQT 1 ) on chromosome 11p15 . 5 , HERG ( LQT 2 ) on chromosome 7q35 36 , SCN5A ( LQT 3 ) on chromosome 3p21 24 , and MinK ( LQT 5 ) on chromosome 21q22 . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Genetic linkage analysis excluded the regions for LQT 2 , LQT 3 , and LQT 5 . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We found significant linkage of QTc with the loci for LQT 1 on chromosome 11 and LQT 4 on chromosome 4 but not to LQT 2 , LQT 3 , or LQT 5 . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| We used electrophysiological and immunocytochemical methods to compare the cellular phenotypes of wild type minK and four LQT 5 mutants co expressed with KvLQT 1 in Xenopus oocytes and HERG in HEK 293 cells . ^^^ We conclude that minK is a co factor in the expression of both IKs and IKr and propose that clinical manifestations of LQT 5 may be complicated by differing effects of minK mutations on KvLQT 1 and HERG . . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Three of these , LQT 1 , LQT 2 , and LQT 5 , encode potassium channel subunits . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| LQT was found to be caused by mutations in four genes LTQ 1 , LQT 2 , LQT 3 and LQT 5 , and linkage was reported for an additional locus , LQT 4 , on chromosome 4q25 27 . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Genetic studies have identified four forms of congenital long QT syndrome ( LQTS ) caused by mutations in ion channel genes located on chromosomes 3 ( LQT 3 ) , 7 ( LQT 2 ) , 11 ( LQT 1 ) , and 21 ( LQT 5 ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| All code for subunits of sodium or potassium channels : two a subunits of the potassium channels ( QVLQT 1 for LQT 1 , HERG for LQT 2 ) , the a subunit of the sodium channel INa ( SCN5A for LQT 3 ) , and two regulatory subunits of potassium channels ( KCNE 1 for LQT 5 regulating the KvLQT 1 channel and MiRP 1 regulating HERG ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| It is becoming clear that mutations in the KVLQT 1 , human `` ether a go go ' ' related gene , cardiac voltage dependent sodium channel gene , minK and MiRP 1 genes , respectively , are responsible for the LQT 1 , LQT 2 , LQT 3 , LQT 5 and LQT 6 variants of the Romano Ward syndrome , characterized by autosomal dominant transmission and no deafness . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| BACKGROUND : Congenital long QT syndrome ( LQTS ) is caused by mutations of genes encoding the slow component of the delayed rectifier current ( LQT 1 , LQT 5 ) , the rapid component of the delayed rectifier current ( LQT 2 , LQT 6 ) , or the Na ( + ) current ( LQT 3 ) , resulting in ST T wave abnormalities on the ECG . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| METHODS : We enrolled 27 symptomatic patients with LQTS undergoing ICD therapy ( QTc 540 + / 64 ms ( 1 / 2 ) ; 85 % female , 63 % cardiac arrest ; 33 % syncope despite beta blockers ; 4 % with severe phenotype ) and 81 genotyped patients with LQTS undergoing conventional drug therapy ( 28 LQT 1 , 39 LQT 2 , 1 LQT 3 , 13 LQT 5 ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The summation of cAMP mediated effects is a net diminution of the effective current , but when HERG is complexed with with the K ( + ) channel accessory proteins MiRP 1 or minK , the stimulatory effects of cAMP are favored . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| These include two potassium channel alpha subunits ( KVLQT 1 and HERG ) , two potassium channel beta subunits ( minK and MiRP 1 ) , and one sodium channel gene ( SCN5A ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Coexpression of MiRP 1 with HERG had no effect on inactivation gating and did not modify Dd sotalol block . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| These include two potassium channel alpha subunits ( KVLQT 1 , HERG ) , two potassium channel beta subunits ( minK , MiRP 1 ) , and one sodium channel gene ( SCN5A ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| In addition , coinjection of rat MiRP 1 with HERG cDNA did not influence the TRH induced modulation of HERG channels . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| When HERG was coexpressed with the beta subunit MiRP 1 , a similar potency for block was measured ( IC ( 50 ) : 15 . 0 + / 3 . 0 microM at 0 mV , n = 5 ) . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Consistent with these hypotheses , N and C terminal variants of ERG 1 have been identified , and it has been demonstrated that heterologously expressed ERG 1 and minK ( or MiRP 1 ) coimmunoprecipitate . ^^^ |
|
| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| To investigate whether MinK , MiRP 1 , and MiRP 2 operate similarly with their known native alpha subunit partners ( KCNQ 1 , HERG , and Kv3 . 4 , respectively ) two conserved residues associated with human disease and influential in channel function were evaluated . ^^^ |
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| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| A comparison of currents carried by HERG , with and without coexpression of MiRP 1 , and the native rapid delayed rectifier current . ^^^ Although it has been suggested that coexpression of minK related peptide ( MiRP 1 ) is required for reconstitution of native rapid delayed rectifier current ( 1 ( Kr ) ) by human ether a go go related gene ( HERG ) , currents resulting from HERG ( 1 ( HERG ) ) and HERG plus MiRP 1 expression have not been directly compared with native 1 ( Kr ) . ^^^ We compared the pharmacological and selected biophysical properties of 1 ( HERG ) with and without MiRP 1 coexpression in Chinese hamster ovary ( CHO ) cells with those of guinea pig 1 ( Kr ) under comparable conditions . ^^^ MiRP 1 coexpression significantly accelerated 1 ( HERG ) deactivation at potentials negative to the reversal potential , but did not affect more physiologically relevant deactivation of outward 1 ( HERG ) , which remained slower than that of 1 ( Kr ) . ^^^ MiRP 1 shifted 1 ( HERG ) activation voltage dependence in the hyperpolarizing direction , whereas 1 ( Kr ) activated at voltages more positive than 1 ( HERG ) . ^^^ |
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| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Coexpression of wild type and K897T HERG with the ss subunit MiRP 1 , slightly changed current kinetics but did not change sensitivity to terfenadine and fexofenadine . 4 . ^^^ |
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| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The functional effects of human MiRP 1 ( hMiRP 1 ) / HERG interaction were also affected by endogenous xMiRP 2 . ^^^ |
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| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| Mutant MiRP 1 subunits modulate HERG K+ channel gating : a mechanism for pro arrhythmia in long QT syndrome type 6 . ^^^ MiRP 1 is thought to associate with many K+ channel alpha subunits , including HERG K+ channels , which have a major role in suppressing arrhythmias initiated by premature beats . ^^^ In this study we have investigated in Chinese hamster ovary ( CHO ) cells at 37 degrees C the effects of co expressing HERG K+ channels with either wild type ( WT ) MiRP 1 or one of three mutant MiRP 1 subunits , T8A , Q9E and M54T . ^^^ The most significant effects of MiRP 1 subunits on HERG channels were a more negative steady state activation for HERG + T8A MiRP 1 and a more positive steady state activation for HERG + M54T MiRP 1 compared to either HERG + WT MiRP 1 or HERG alone . ^^^ T8A MiRP 1 also caused an acceleration of inactivation and recovery from inactivation compared to HERG + WT MiRP 1 . ^^^ |
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| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The effects of amide local anaesthetics on HERG channels co expressed with the putative subunit MiRP 1 have not been established . ^^^ It is also unclear if the common polymorphism MiRP 1 ( T8A ) that predisposes individuals to drug induced cardiac arrhythmia increases local anaesthetic sensitivity of HERG / MiRP1 channels . ^^^ The putative subunit MiRP 1 did not alter local anaesthetic sensitivity of HERG channels . ^^^ The common single nucleotide polymorphism producing MiRP 1 ( T8A ) did not increase local anaesthetic sensitivity of HERG / MiRP1 channels . ^^^ |
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| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| HERG may be associated with mink ( KCNE 1 ) and / or minK related protein ( MiRP 1 ) to form IKr , but the issue remains to be established . ^^^ |
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| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| No significant EPI MID differences were observed in the expression of the other channel proteins studied ( Kir2 . 1 , alpha1C , HERG and MiRP 1 ) . ^^^ |
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| Interacting proteins: Q9Y6J6 and Q12809 |
Pubmed |
SVM Score :0.0 |
| The diagnostic analyses are performed by sequencing the exons of five genes , KCNQ 1 , HERG , SCN5A , minK and MiRP 1 . ^^^ |
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