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T-box 4

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GeneName tbx4
Aliases ENSDARG:ENSDARG00000030058; T-box 4
Description T-box 4
GenomicLocation chromosome 15 26736443-26760093 forward strand
ExternalIDs Entrez:30070; EMBL:AF179406; UniGene:81320; ZFIN:ZDB-GENE-991124-5;
TranscriptID ENSDART:ENSDART00000018603
mRNA NCBI:NM_130914
GeneDescription Tbx4 belong to the T-box gene family and has been known to play important roles in specifying the identity of the vertebrate limb.
GeneFunction Tamura et al. (1999 ) identified two new members of the T-box gene family tbx4 and tbx5 from zebrafish, Danio rerio. They further reported that their amino acid sequences shared high homology with the mouse, chick, and newt orthologs. They had further shown through in situ hybridization that these genes were expressed in the eye and fin buds. Tbx4 transcripts were confined in the pelvic fin bud.Ruvinsky et al. (2000) screened the 33-hpf embryonic cDNA library and isolated two clones, one of which was identified as a tbx4-like gene and the other was preliminarily designated as tbx5. They further studied the expression of tbx4 using in situ hybridization. They observed that tbx4 as well as tbx5 genes were expressed in a highly restricted patterns during embryonic development. Tbx4 was expressed only in the eye and in isolated neurons of the ventral diencephalon. Tbx4 expression was also detected in the nested domains in the developing neuroepithelium of the zebrafsih retina. They further founc observed that tbx4 and tbx5 expression patterns were superimposable in a narrower section of the dorsal optic cup. They also observed that in 4-wpf clutches, strong expression of tbx4 was detected in the mesenchyme of pelvic fin buds from the time of eruption from the flanks lateral to the ventral fin fold.
GeneCloning tbx4 Contained in: [BAC] CH211-229G11, tbx4 Encodes: [cDNA] MGC:193783
GeneStructure It encodes a single transcript ENSDART00000018603 which consist 9 exons and is 2,231 bps in length. The protein product (ENSDARP00000010616) consist 543 residues.
Protein ENSDARP00000010616
ProteinDomainandFamilies has domain InterPro:IPR002070; InterPro:IPR001699;
Motifs has motif Prosite:PS01264; Prosite:PS01283; PFAM:PF00907; PRINTS:PR00937; PRINTS:PR00938;
Expression ArrayExpress:ENSDARG00000030058;
GeneOntology GO:0005634; GO:0006355; GO:0003700;
Orthologs Entrez:Gene:9496
VariationAndRepeats RSID:rs41159915; RSID:rs41235549; RSID:rs40943007; RSID:rs40853244; RSID:rs40778100; RSID:rs40981490; RSID:rs40816836; RSID:rs41028802
DisordersAndMutations Phenotype Human orthologue:Small patella syndrome, MO1-tbx4
RelatedPubMedArticles Tamura, K.; Yonei-Tamura, S.; Belmonte, J, C, I.: Differential expression of Tbx4 and Tbx5 in Zebrafish fin buds. Mechanisms of Development 87 (1999) 181-184. PMID:10495283 Ruvinsky, I.; Oates, A, C.; Silver, L, M.: The evolution of paired appendages in vertebrates : T-box genes in the zebrafish Dev Genes Evol (2000) 210: 82-91. PMID:10664151 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 - ShrutiKapoor
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