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NK2 transcription factor related 5


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GeneName nkx2.5
Aliases ENSDARG:ENSDARG00000018004; tinman homeobox homolog, nk2.5, nkx2-5, zgc:111912
Description NK2 transcription factor related 5
GenomicLocation chromosome 14 25240905-25243698 forward strand
ExternalIDs Entrez:30696; EMBL:S83517; UniGene:271; ZFIN:ZDB-GENE-980526-321;
TranscriptID ENSDART:ENSDART00000022377
mRNA NCBI:NM_131421
GeneDescription Nkx2.5 is the zebrafish homolog of the tinman homeodomain gene needed for visceral and cardiac mesoderm formation in Drosophila. Mutations in the gene nkx2.5, a key cardiac transcription factor, has been implicated as one of the major causes of coronary heart diseases.
GeneFunction Chen JN and Fishman MC.,1996 showed that Nkx2.5 marks the earliest embryonic heart field capable of initiating the cardiogenic differentiation program. Nkx2.5 is likely to be but one step in the determination of cardiac myocyte cell fate.Sultana N et al.,2008 demonstrated that Nkx2.5 is the downstream mediator of early cardiac connexin (Ecx) mediated signalling. Their analysis of ftk mutant revealed that Ecx is a unique regulator for establishing nkx2.5 expression at an early stage of heart development, which is essential for heart morphogenesis, including ordered alignment of myofibrils in cardiomyocytes , trabeculation of heart muscles and subsequent heart morphogenesis.
GeneCloning The gene is contained in a BAC clone CH73-269A20 (Vector: pTARBAC2).
GeneStructure The gene encodes for one transcript ENSDART00000022377 which has 2 exons, transcript length of 1,657bps and a protein product ENSDARP00000016308 of 314 resicues.
Protein ENSDARP00000016308
ProteinDomainandFamilies has domain InterPro:IPR012287; InterPro:IPR001356;
Motifs has motif Prosite:PS00027; PFAM:PF00046; PRINTS:PR00024;
Expression ArrayExpress:ENSDARG00000018004;
GeneOntology GO:0005634; GO:0006355; GO:0045449; GO:0006353; GO:0006350; GO:0031564; GO:0043565; GO:0003677; GO:0003700;
Orthologs Entrez:1482;
VariationAndRepeats RSID:rs40938680: RSID:rs41104850: [[RSID:RSID:rs41048856: RSID:rs40755911: RSID:rs40851766: RSID:rs41042268
DisordersAndMutations The antisense morpholino oligonucleotide targeted against the ATG initiation sites of nkx2.5 gene transcripts has the following sequence -(5′-CATTTGGCTAGAGAACATTGCCATG-3′).
RelatedPubMedArticles Chen, J.N. and Fishman, M.C. Zebrafish tinman homolog demarcates the heart field and initiates myocardial differentiation. Development 122(12): 3809-3816 (Journal), 1996, PMID:9012502 .Sultana N, Nag K, Hoshijima K, Laird DW, Kawakami A, Hirose S. Zebrafish early cardiac connexin, Cx36.7/Ecx, regulates myofibril orientation and heart morphogenesis by establishing Nkx2.5 expression. Proc Natl Acad Sci U S A. 2008 Mar 25;105(12):4763-8. Epub 2008 Mar 12, PMID:18337497 .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: r2 - 2013-07-06 - RamcharanAngom
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