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birc2

baculoviral IAP repeat-containing 2

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GeneInformationForm
GeneName birc2
Aliases ENSDARG:ENSDARG00000044619; IAP1, birc3
Description baculoviral IAP repeat-containing 2
GenomicLocation chromosome 21 21948988-21966075 forward strand
ExternalIDs Entrez:373107; EMBL:BC115241; UniGene:77093; ZFIN:ZDB-GENE-030825-6;
TranscriptID ENSDART:ENSDART00000151621 ; ENSDART:ENSDART00000111150; ENSDART:ENSDART00000065555
mRNA NCBI:NM_194395
GeneDescription Birc2 belongs to the inhibitor of apoptosis proteins (IAPs) family, that regulate apoptosis induced by various stimuli.
GeneFunction Santoro et al. (2007) showed the importance of birc2 for endothelial cell survival and blood vessel homeostasis during vascular development. Using genetic and molecular approaches they showed the role of birc2 in positive regulation of the formation of TNF receptor complex I in endothelial cells, thereby promoting NF-jB activation and maintaining vessel integrity and stabilization. Using the combination of genetic and biochemical methods they showed the essential role of birc2 in regulating endothelial cell survival in the microenvironment of blood vessels in vivo. They have also suggested the role of birc2 in Fas and CD40 receptor complexes.
GeneCloning The gene is contained in BAC clone DKEYP-69C1 (Vector: pIndigoBAC-536).
GeneStructure This gene encodes for 2 transcripts.The transcript ENSDART00000065555 consists of 9 exons and is 2.601 bps in length. The protein product ENSDARP00000065554 consists of 647 residues.The transcript ENSDART00000111150 consists of 9 exons and is 2.552 bps in length. The protein product ENSDARP00000103254 consists of 647 residues
Protein ENSDARP00000126110 ; ENSDARP00000103254 ENSDARP00000065554
ProteinDomainandFamilies has domain InterPro:IPR001370; InterPro:IPR001841; InterPro:IPR001315; InterPro:IPR011029; InterPro:IPR018957;
Motifs has motif Prosite:PS01282;Prosite:PS50089;Prosite:PS50143;Prosite:PS50209; PFAM:PF00097; PFAM:PF00619; PFAM:PF00653;
Expression ArrayExpress:ENSDARG00000044619;
GeneOntology GO:0046872; GO:0042981; GO:0005622; GO:0005515; GO:0008270;
Orthologs Entrez:638;
VariationAndRepeats RSID:rs40668620; RSID:rs40711975; RSID:rs40747432; RSID:rs41165795; RSID:rs41199582; RSID:rs40850752; RSID:rs40711943; RSID:rs40950761; RSID:rs40941593;
DisordersAndMutations Santoro et al. (2007) knocked down Birc2 expression using an antisense morpholino oligonucleotide and observed the hemorrhagic phenotype and vascular apoptosis that is similar to that in tom mutants. Immunoblot analyses on protein lysates from wild-type and tom mutant embryos could not express detectable levels of birc2, indicating tom as a null mutant of birc2.ZFINID:ZDB-GENO-080606-158; ZFINID:ZDB-GENO-040910-3; ZFINID:ZDB-GENO-080318-16; ZFINID:ZDB-GENO-080118-1; ZFINID:ZDB-GENO-080118-6;
RelatedPubMedArticles Santoro, M. M.; Samuel, T.; Mitchell, T.; Reed, J. C.; Stainier, D. Y.: Birc2 (cIap1) regulates endothelial cell integrity and blood vessel homeostasis. Nat Genet. ;39(11):1397-402, 2007. Epub 2007 Oct 14. PMID:17934460 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 - 2013-07-26 - DivyaJagga02
 
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