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potassium voltage-gated channel, subfamily H (eag-related), member 2


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GeneName kcnh2
Aliases ENSDARG:ENSDARG00000029881; bre, breakdance, reg, unm s213, silent ventricle, erg, potassium voltage-gated channel, subfamily H (eag-related), member 2
Description potassium voltage-gated channel, subfamily H (eag-related), member 2
GenomicLocation Chromosome 2: 23695890-23783096 reverse strand
ExternalIDs ZFIN:ZDB-GENE-040702-5; Entrez:405763; UniGene:81739;
TranscriptID ENSDART:ENSDART00000024058;
mRNA NCBI:NM_212837
GeneDescription herg gene encodes the transmembrane channel protein responsible for the rapidly activating delayed rectifier K_ current (IKr)
GeneFunction Driever et al. (1996) screened mutations affecting embryogenesis in zebrafish.Kopp et al. (2005) concluded that the bre mutation does not imply the continuous expression of a 2:1 rhythm. An elevated ventricular pressure during the relaxation phase and the bradycardia support the conclusion that an ion channel involved in the repolarization of the ventricle is defective in mutant animals. A possible candidate for this ion channel would be a potassium channel, but the mutation not only affects the signal transduction to the ventricle, but also the pacemaker itself.Arnaout et al. (2007) showed that complete loss of functional IKr in embryonic hearts leads to ventricular cell membrane depolarization, inability to generate action potentials (APs), and disrupted calcium release.Hassel et al. (2008) presented zebrafish mutant reggae (reg) as the first animal model of congenital SQTS. Zebrafish reg displays a distinct phenotype of intermittent atrial fibrillation and accelerated cardiomyocyte repolarization (QT shortening) reminiscent of human SQTS. They found that reg mutants carry a missense mutation (L499P) in the voltage sensor of the zebrafish ether-à-go-go–related gene (zERG) potassium channel. With its molecular and pathophysiological concordance to human SQTS type 1 (SQT1), zebrafish reg may prove to be a valuable model to investigate disease mechanisms genetically and to test new pharmacological treatment options in high-throughput screens.Leong IU, et al (2010) suggested that zerg-3 (KCNH6 orthologue) has gained or adopted KCNH2 function, while zerg-2 (KCNH2 orthologue) appears to play a minor role in the heart.
GeneCloning Contained in DKEY-15N1 (BAC); DKEY-194J22 (BAC)
GeneStructure This gene encodes a single transcript: ENSDART00000024058 consists of 15 exons and is 3762 bp in length. ENSDARP00000009558 is 1253 amino acid residues
Protein ENSDARP00000009558
ProteinDomainandFamilies has domain InterPro:IPR003938; InterPro:IPR014710; InterPro:IPR001610; InterPro:IPR005821; InterPro:IPR000595; InterPro:IPR003967;
Motifs has motif PFAM:PF00027; PFAM:PF00520; Prosite:PS50042; PRINTS:PR01463; PRINTS:PR01470;
Expression ArrayExpress:ENSDARG00000029881;
GeneOntology GO:0016020; GO:0016021; GO:0006813; GO:0007165; GO:0006355; GO:0006811; GO:0008016; GO:0005216; GO:0005249; GO:0005267;
Orthologs Entrez:3757;
VariationAndRepeats RSID:rs180043803; RSID:rs180043802; RSID:rs180043801; RSID:rs180043800; RSID:rs180043799; RSID:rs41249026; RSID:rs41066220; RSID:rs40740064; RSID:rs41048395; RSID:rs40742517; RSID:rs180043797; RSID:rs180043796; RSID:rs180043795; RSID:rs180043794; RSID:rs180043793; RSID:rs180043792; RSID:rs180043791; RSID:rs41161639; RSID:rs40940147; RSID:rs180043790; RSID:rs180043789; RSID:rs180043788; RSID:rs180043787; RSID:rs180043786; RSID:rs180043785; RSID:rs180043784; RSID:rs180043783; RSID:rs180043782; RSID:rs180043781; RSID:rs180043780; RSID:rs41199139; RSID:rs180043779; RSID:rs180043778; RSID:rs180043777; RSID:rs41114306; RSID:rs40677969; RSID:rs180043776; RSID:rs180043775; RSID:rs180043774
DisordersAndMutations Arnaout et al. (2007) in an ENU forward genetic screen, identified mutations in kcnh2. Homozygous mutations exhibited a silent ventriole phenotype and the Ikr channels were rendered non-functional. Even at 33 hpf, the mutant ventricles do not contract or fill with blood and appear collapsed. By 48 hpf, the mutants exhibit pericardial edema and absence of circulation. By 10 dpf, the larvae die. However, heterozygotes survived till adulthood and were fertile. The mutant embryos also did not generate spontaneous APs. kcnh2 homozygous mutant ventricles showed impaired calcium ion release. The heterozygous animals displayed abnormal ventricular repolarization.
RelatedPubMedArticles Driever, W., Solnica-Krezel, L., Schier, A.F., Neuhauss, S.C., Malicki, J., Stemple, D.L., Stainier, D.Y., Zwartkruis, F., Abdelilah, S., Rangini, Z., Belak, J., and Boggs, C. (1996) A genetic screen for mutations affecting embryogenesis in zebrafish. Development 123:37-46. PMID: 9007227 Chen J. N.; Haffter P.; Odenthal J.; Vogelsang E.; Brand M.; van Eeden F. J.; Furutani-Seiki M.; Granato M.; Hammerschmidt M.; Heisenberg C. P.; Jiang Y. J.; Kane D. A.; Kelsh R. N.; Mullins M. C.; Nüsslein-Volhard C. Mutations affecting the cardiovascular system and other internal organs in zebrafish. Development. 1996. 123:293-302. PMID: 9007249 Haffter P.; Granato M.; Brand M.; Mullins MC.; Hammerschmidt M.; Kane DA.; Odenthal J.; van Eeden F. J.; Jiang Y. J.; Heisenberg C. P.; Kelsh R. N.; Furutani-Seiki M.; Vogelsang E.; Beuchle D.; Schach U.; Fabian C.; Nüsslein-Volhard C. The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio. Development. 1996. 123:1-36. PMID: 9007226 Langheinrich U.; Vacun G.; Wagner T. Zebrafish embryos express an orthologue of HERG and are sensitive toward a range of QT-prolonging drugs inducing severe arrhythmia. Toxicol Appl Pharmacol. 2003. 193(3):370-82. PMID: 14678746 Cheng J. H.; Kodama I. Two components of delayed rectifier K+ current in heart: molecular basis, functional diversity, and contribution to repolarization. Acta Pharmacol Sin. 2004. 25(2):137-45. Review. PMID: 14769199 Kopp, R., Schwerte, T., and Pelster, B. (2005) Cardiac performance in the zebrafish breakdance mutant. J. Exp. Biol. 208(Pt 11):2123-2134. PMID: 15914656 Arnaout R.; Ferrer T.; Huisken J.; Spitzer K.; Stainier D. Y.; Tristani-Firouzi M.; Chi N. C. Zebrafish model for human long QT syndrome. Proc Natl Acad Sci U S A. 2007. 104(27):11316-21. PMID: 17592134 Brown S. B.; Tucker C. S.; Ford C.; Lee Y.; Dunbar D. R.; Mullins J. J. Class III antiarrhythmic methanesulfonanilides inhibit leukocyte recruitment in zebrafish. J Leukoc Biol. 2007. 82(1):79-84. PMID: 17431092 Hassel D.; Scholz E. P.; Trano N.; Friedrich O.; Just S.; Meder B.; Weiss D. L.; Zitron E.; Marquart S.; Vogel B.; Karle C. A.; Seemann G.; Fishman M. C.; Katus H. A.; Rottbauer W. Deficient zebrafish ether-à-go-go-related gene channel gating causes short-QT syndrome in zebrafish reggae mutants. Circulation. 2008. 117(7):866-75. PMID: 18250272 Chi N. C.; Shaw R. M.; Jungblut B.; Huisken J.; Ferrer T.; Arnaout R.; Scott I.; Beis D.; Xiao T.; Baier H.; Jan L. Y.; Tristani-Firouzi M.; Stainier DY. Genetic and physiologic dissection of the vertebrate cardiac conduction system. PLoS Biol. 2008. 6(5):e109. PMID: 18479184 Leong IU, Skinner JR, Shelling AN, Love DR. Identification and expressionanalysis of kcnh2 genes in the zebrafish. Biochem Biophys Res Commun. 2010 Jun11;396(4):817-24. Epub 2010 May 11. PubMed PMID: 20438705.NCBI Resource Coordinators.: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 41(Database issue):D8-D20. 2013. PMID:23193264
Kersey, P. J.; Allen, J. E.; Christensen, M.; et al.: Ensembl Genomes 2013: scaling up access to genome-wide data. Nucleic Acids Res. 2013. PMID:24163254
Sigrist, C. J. A.; de, Castro, E; Cerutti, L; Cuche, B. A.; Hulo, N.; Bridge, A.; Bougueleret, L. Xenarios, I.: New and continuing developments at PROSITE. Nucleic Acids Res. doi: 10.1093/nar/gks1067. 2012. PMID:23161676
Punta, M.; Coggill, P. C.; Eberhardt, et al.: The Pfam protein families database. Nucleic Acids Res. 40(Database Issue):D290-D301. 2012. PMID:22127870
Hunter, S.; Jones P.; Mitchell A.; et al.: Interpro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. doi: 10.1093/nar/gkr948. 2011. PMID:22096229
Carbon, S.; Ireland, A.; Mungall, C. J.; Shu, S.; Marshall, B.; Lewis, S.; AMIGO Hub; Web Presence Working Group.: AMIGO: online access to ontology and annotation data. Bioinformatics. 25(2):288-9. 2009. PMID:19033274
Ashburner, M.; Ball, C. A.; Blake, J. A.; et al. The Gene Ontology Consortium.: Gene ontology: tool for the unification of biology. Nat. Genet. 25(1):25-9. 2000. PMID:10802651
Sherry, S. T.; Ward, M. H.; Kholodov, M.; Baker, J.; Phan, L.; Smigielski, E. M.; Sirotkin, K.: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 1;29(1):308-11. 2001. PMID:11125122
Bradford, Y.; Conlin, T.; Dunn, N.; et al.: ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res. 39(suppl 1):D822-D829. 2011. PMID:21036866
Kapushesky, M.; Adamusiak, T.; Burdett, T.; et al.: Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments. Nucleic Acids Res. 40(Database isue):D1077-81. 2012. PMID:22064864

Web resources:
NCBI: http://www.ncbi.nlm.nih.gov/
PFAM: http://pfam.sanger.ac.uk/
PROSITE: http://prosite.expasy.org/
Interpro: http://www.ebi.ac.uk/interpro/
ZFIN: http://zfin.org/
Expression Atlas (EMBL): http://www.ebi.ac.uk/gxa/
Ensembl: http://asia.ensembl.org/Danio_rerio/
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine.: http://www.ncbi.nlm.nih.gov/SNP/
PRINTS from Genomenet: http://www.genome.jp/
European Nucleotide Archive: http://www.ebi.ac.uk/ena/home
UNIGENE: http://www.ncbi.nlm.nih.gov/unigene/
AMIGO Gene Ontology: http://amigo.geneontology.org
Topic revision: r3 - 2013-07-06 - MeghnaSingh
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