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exostoses (multiple) 2


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GeneName ext2
Aliases ENSDARG:ENSDARG00000056648; ext2a, wu:fc14g07, fc14g07, dak, dackel
Description exostoses (multiple) 2
GenomicLocation chromosome 7 27970142-28018481 forward strand
ExternalIDs Entrez:493780; UniGene:37595; ZFIN:ZDB-GENE-041124-3; EMBL:AY786508;
TranscriptID ENSDART:ENSDART00000079165; ENSDART:ENSDART00000140669; ENSDART:ENSDART00000140299
mRNA NCBI:NM_001008400
GeneDescription Ext2 has been known to play an important role in skeletogenesis and its regulation
GeneFunction Norton et al. (2005) reproted the analysis of daedalus, a novel zebrafish pectoral fin mutant and fgf10 has been known to be the gene disrupted in daedalus. They further found that fgf10 mutants strongly resembles zebrafish ext2 mutants. Clement et al. (2008) had shown two zebrafish mutants, dackel and pinscher, which had cartilage defects that strongly resembled to those seen in patients with Hereditary Multiple exostoses. They had also determined that dak encodes zebrafish Ext2. They had also shown that although dak and pic are required for cartilage morphogenesis but they have been shown to be dispensable for chondrocyte and perochondral cell differentiation. They had reported that dak and pic are also required for chodrocyte differentiation and osteoblast differentiation. They had further shown, through transplantation analysis, that dak(-/-) cell were rescued by neighbouring wild-type chondrocytes.
GeneCloning This gene is cloned in Tg(hsp70l:ext2-2A-TagRFP,myl7:EGFP)
GeneStructure This gene encodes three transcripts (ENSDART00000079165) consist of 15 exons and is 3,161 bps in length. The protein product (ENSDARP00000073621) consist of 719 residues. (ENSDART00000140299) consist of 3 exons and is 667bps in length. (ENSDART00000140669) consists of 3 exons and is 667 bps
Protein ENSDARP00000073621
ProteinDomainandFamilies has domain InterPro:IPR015338; InterPro:IPR004263;
Motifs has motif PFAM:PF03016; PFAM:PF09258;
Expression ArrayExpress:ENSDARG00000056648;
GeneOntology GO:0016020; GO:0045743; GO:0033339; GO:0035118; GO:0030516; GO:0015012; GO:0035138; GO:0050509; GO:0016758; GO:0031227; GO:0051216; GO:0001649; GO:0001501;
Orthologs Entrez:2132;
VariationAndRepeats RSID:rs41095778; RSID:rs41173695; RSID:rs40753808; RSID:rs40615619;
DisordersAndMutations [[ZFINID:ZDB-GENO-120209-15,[[ ZFINID:ZDB-GENO-121010-7, ZFINID:ZDB-GENO-121129-3; ZFINID:ZDB-GENO-980202-1196; ZFINID:ZDB-GENO-980410-189; ZFINID:ZDB-GENO-980202-872; ZFINID:ZDB-GENO-980202-1195;
RelatedPubMedArticles Norton WH, Ledin J, Grandel H, Neumann CJ. HSPG synthesis by zebrafish Ext2 and Extl3 is required for Fgf10 signalling during limb development.Development. ;132(22):4963-73. 2005. PMID:16221725 Clément A, Wiweger M, von der Hardt S, Rusch MA, Selleck SB, Chien CB, Roehl HH. Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher.PLoS Genet. ;4(7):e1000136. 2008. PMID:18654627 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 - 2013-08-22 - ElvinLeonard
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