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casq2

calsequestrin 2

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GeneInformationForm
GeneName casq2
Aliases ENSDARG:ENSDARG00000008982; wu:fa02h03, zgc:86817
Description calsequestrin 2
GenomicLocation chromosome 9 34130597-34140545 reverse strand
ExternalIDs Entrez:114410; EMBL:BC075775; UniGene:75359; ZFIN:ZDB-GENE-010724-12;
TranscriptID ENSDART:ENSDART00000013918
mRNA NCBI:NM_001002682
GeneDescription casq2 codes for a protein Calsequestrin. Calsequestrin is a calcium-binding protein of the sarcoplasmic reticulum. The protein helps hold calcium in the cisterna of the sarcoplasmic reticulum after a muscle contraction, even though the concentration of calcium in the sarcoplasmic reticulum is much higher than in the cytosol. It also helps sarcoplasmic reticulum store an amazing amount of calcium ions
GeneFunction Rajarao et al. (2001) mapped the Human ortholog Casq2 gene in Zebrafish at 9-60.5 position and reported the location of ATP1A1gene in association with CASQ2 near the Centromere.Jessen et al. (2003) reported the location of Casq2 in Zebrafish tail, which is located adjacent to vangl1 in a tail-to-tail genomic organization.Thisse et al. (2004) reported the expression of Casq2 gene in myotomes heart, pectoral fin muscles and head muscles during the early stages of development.
GeneCloning The gene is contained in a BAC clone CH211-125E6 (Vector: pTARBAC2.1).
GeneStructure The gene encodes for a single transcript (ENSDART00000013918) which consists of 11 exons and is 2858 bps in length. The protein product (ENSDARP00000020399) consists of 409 residues.
Protein ENSDARP00000020399
ProteinDomainandFamilies has domain InterPro:IPR012335; InterPro:IPR001393;
Motifs has motif PFAM:PF01216; PRINTS:PR00216; PRINTS:PR00312;
Expression ArrayExpress:ENSDARG00000008982;
GeneOntology GO:0005509;
Orthologs Entrez:845;
VariationAndRepeats RSID:rs180140681; RSID:rs180140682; RSID:rs180140683
DisordersAndMutations

RelatedPubMedArticles Jessen JR, Solnica-Krezel L.Identification and developmental expression pattern of van gogh-like 1, a second zebrafish strabismus homologue. Gene Expr Patterns.;4(3):339-44. 2004. PMID:15053985 . Rajarao SJ, Canfield VA, Mohideen MA, Yan YL, Postlethwait JH, Cheng KC, Levenson R.The repertoire of Na,K-ATPase alpha and beta subunit genes expressed in the zebrafish, Danio rerio. Genome Res;11(7):1211-20, 2001. PMID:11435403 .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 - 2013-07-06 - ParasSehgal
 
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