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Cx23

connexin 23

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GeneInformationForm
GeneName Cx23
Aliases ENSDARG:ENSDARG00000054150; si:dkey-283f18.2, cx23a, zgc:110620
Description connexin 23
GenomicLocation chromosome 20 37318929-37321921 forward strand
ExternalIDs ZFIN:ZDB-GENE-050320-121; Entrez:541419; UniGene:141011
TranscriptID ENSDART:ENSDART00000140450; ENSDART:ENSDART00000076293
mRNA NCBI:NM_001013546
GeneDescription Connexins, or gap junction proteins, are a family of structurally-related transmembrane proteins that assemble to form vertebrate gap junctions. Each gap junction is composed of two hemichannels, or connexons, which are themselves each constructed out of six connexin molecules. Gap junctions are essential for many physiological processes, such as the coordinated depolarization of cardiac muscle, and proper embryonic development
GeneFunction Iovine et al. (2008) experimentally showed that cx23 is expressed in embryonic lens. They did an in situ hybridization study of tissues to see cx23 expression and found that it is expressed in the lens in 24 hpf embryosThey also tried to study the role of cx23 in gap junction formation. To study this role they used eGFP tagged version of cx23 but could not notice the aggregation of floursence in the typical areas of cell to cell interaction. Injection of propidium iodide to cell pairs expressing cx23-eGFP did not reveal any dye coupling suggesting that cx23-eGFP did not transfer propidium iodide , but transfection of untagged cx23 constructs permitted transfer in about 47% of the cells .Thus this showed that untagged cx23 is capable of forming functional gap junction channels but with a reduced efficency and tagging of cx23 with eGFP hinders with the cx23 actvity
GeneCloning The gene is contained in BAC clone DKEY-283F18 (Vector: pIndigoBAC-536).
GeneStructure This gene encodes two transcripts(ENSDART00000076293) which consists of 3 exons and is 624 bps in length. The protein product (ENSDARP00000070770) consists of 207 residues(ENSDART00000076302) which consists of 3 exons and is 1,572 bps in length. The protein product (ENSDARP00000070778) consists of 204 residues
Protein ENSDARP00000122953 ENSDARP00000070770
ProteinDomainandFamilies has domain InterPro:IPR013092; InterPro:IPR000500;
Motifs has motif PFAM:PF00029
Expression ArrayExpress:ENSDARG00000054150;
GeneOntology GO:0005243; GO:0007154; GO:0030054; GO:0005922; GO:0005921; GO:0016021; GO:0016020; GO:0005886
Orthologs Entrez:100126572
VariationAndRepeats

DisordersAndMutations

RelatedPubMedArticles Iovine, M.K.; Gumpert, A.M.; Falk, M.M.; Mendelson, T.C.: Cx23, a connexin with only four extracellular-loop cysteines, forms functional gap junction channels and hemichannels. FEBS Lett. 23;582(2):165-70, 2008. PMID:18068130 .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 - 2013-07-27 - ParasSehgal
 
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