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Cx48_5

connexin 48.5

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GeneInformationForm
GeneName Cx48_5
Aliases ENSDARG:ENSDARG00000021889; cx46, Cx44, gja3
Description connexin 48.5
GenomicLocation chromosome 9 22438985-22444754 forward strand
ExternalIDs ZFIN:ZDB-GENE-031217-3; Entrez:387533; UniGene:86919
TranscriptID ENSDART:ENSDART00000031829; ENSDART:ENSDART00000145627
mRNA NCBI:NM_207642
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 Cheng et al. (2003) reported the zebrafish mRNA expression of Cx 48.5,Cx44.1,Cx43 during lens development, both by RT-PCR as well as by whole mount in situ hybridization. It was found that Cx 48.5 is strongly expressed throughout the lens except the lateral lens epithelium, at 36 hours post fertilization. This pattern remained same till 2 days post fertilization. But by 3and 4 dpf the expression was restricted to the differentiating lens fibers in the equatorial and medial regions.Cheng et al. (2004) described the isolation and characterization of zebrafish Cx 48.5. Expression analysis showed that Cx48.5 is expressed in the adult and embryonic lens and heart, adult testis, and transiently in the embryonic otic vesicles. It was seen that morpholino treated embryos developed small lenses and eyes as well as suffered from severe cardiovascular disease.
GeneCloning The gene is contained in BA clone DKEY-51D17 (Vector: pIndigoBAC-536).
GeneStructure This gene encodes two transcripts. Transcript (ENSDART00000031829) consist of 3 exons and is 3,865 bps in length. The product (ENSDARP00000103110) Consist of 434 residues Transcript (ENSDART00000145627) consist of 1 exons and is 1,480bps in length. The product (ENSDARP00000117213) Consist of 434 residues.
Protein ENSDARP00000103110ENSDARP00000117213
ProteinDomainandFamilies has domain InterPro:IPR002262; InterPro:IPR000500; InterPro:IPR013092;
Motifs has motif Prosite:PS00407; Prosite:PS00408; PFAM:PF00029
Expression ArrayExpress:ENSDARG00000021889;
GeneOntology GO:0055077; GO:0048050; GO:0008016; GO:0005887;
Orthologs Entrez:2700
VariationAndRepeats RSID:rs180018701; RSID:rs180018707; RSID:rs180018707; RSID:rs180018717; RSID:rs180018717; RSID:rs180018754; RSID:rs180018754; RSID:rs180018776; RSID:rs180018776; RSID:rs180018713; RSID:rs180018713; RSID:rs180138319; RSID:rs180138319; RSID:rs180138320; RSID:rs180138320; RSID:rs180138321; RSID:rs180138321; RSID:rs180018731; RSID:rs180018694; RSID:rs180018775; RSID:rs180018732
DisordersAndMutations

RelatedPubMedArticles Cheng, S.; Christie, T.; Valdimarsson, G.: Expression of connexin48.5, connexin44.1, and connexin43 during zebrafish (Danio rerio) lens development. Dev Dyn.;228(4):709-15,2003. PMID:14648847 .Cheng, S.; Shakespeare, T.; Mui, R.; White, T.W.; Valdimarsson, G.: Connexin 48.5 is required for normal cardiovascular function and lens development in zebrafish embryos. J Biol Chem.; 279(35):36993-7003, 2004. PMID:15213236 .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: r3 - 2013-08-20 - ParasSehgal
 
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