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egr2b

Early growth response 2b

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GeneInformationForm
GeneName egr2b
Aliases ENSDARG:ENSDARG00000042826; egr2; cb427; krx20; KRX-20; krox20; MGC92210; zgc:92210; id:ibd5073; wu:fb71h10; egr2b
Description Early growth response 2b
GenomicLocation chromosome 12 9238040-9258480 reverse strand
ExternalIDs Entrez:30190; EMBL:BC081622; UniGene:75080; ZFIN:ZDB-GENE-980526-283;
TranscriptID ENSDART:ENSDART00000062855; ENSDART:ENSDART00000135865
mRNA NCBI:NM_130997
GeneDescription The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D),Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene
GeneFunction Oxtoby et al. (1993) had screened an embryonic zebrafish cDNA library with murine krox20 gene probe that contained zinc finger regions.They had further isolated 2 overlapping cDNA clone (zf187 and zf201), that are the homologs of murine krx20 (egr2b) gene. They had further stated that functional organization of these gene is probably conserved to those of murine krx20 by showing that N-terminal of cDNA (zf201)contained two acidic regions that were identical to murine krx20 gene. Using northern blot analysis, they identified a single transcript of 2.0 kb. They also studied the expression of egr2b gene using in situ hybridization and observed that egr2b expression first appears in the 100% epiboly stage at the single anterior domain of the prospective neuroepithelium fllowed by expression in the posterior domain.
GeneCloning It is contained in the clones MGC:76800 (pCMV-SPORT6.1) and MGC:65727 (pCMV-SPORT6.1).
GeneStructure This gene encodes a single transcript.
The transcript ENSDART00000062855 consist of 2 exons and is 2,040 bps in length. The protein product (ENSDARP00000062854) consist of 412 residues.
Protein ENSDARP00000062854 ENSDARP00000116233
ProteinDomainandFamilies has domain InterPro:IPR007087; InterPro:IPR015880; InterPro:IPR013087;
Motifs has motif Prosite:PS00028; Prosite:PS50157; PFAM:PF00096; PRINTS:PR00048; PRINTS:PR01217; UniProt:EGR2B_DANRE;
Expression ArrayExpress:ENSDARG00000042826;
GeneOntology GO:0005622; GO:0005634; GO:0006350; GO:0006355; GO:0008270; GO:0003676; GO:0003677; GO:0046872;
Orthologs

VariationAndRepeats

DisordersAndMutations

RelatedPubMedArticles Oxtoby, E,; Jowett, T.: Cloning of the zebrafish krox-20 gene (krx-20) and its expression during hindbrain development. Nucleic Acids Research, , Vol. 21, No. 5 1087-1095. 1993. PMID:8464695 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: r7 - 2009-11-26 - MeghnaSingh
 
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