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    Dsc2 desmocollin 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 291760, updated on 16-Aug-2024

    Summary

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    Official Symbol
    Dsc2provided by RGD
    Official Full Name
    desmocollin 2provided by RGD
    Primary source
    RGD:1309426
    See related
    EnsemblRapid:ENSRNOG00000039969 AllianceGenome:RGD:1309426
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be involved in bundle of His cell-Purkinje myocyte adhesion involved in cell communication; regulation of heart rate by cardiac conduction; and regulation of ventricular cardiac muscle cell action potential. Predicted to act upstream of or within cellular response to starvation. Predicted to be located in several cellular components, including adherens junction; cytoplasmic vesicle; and intercalated disc. Predicted to be active in desmosome. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular dysplasia 11. Orthologous to human DSC2 (desmocollin 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Liver (RPKM 180.5), Heart (RPKM 79.2) and 7 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    18p12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 18 NC_086036.1 (11725466..11757591, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 18 NC_051353.1 (11450392..11482476, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 18 NC_005117.4 (11826705..11858801, complement)

    Chromosome 18 - NC_086036.1Genomic Context describing neighboring genes Neighboring gene desmocollin 3 Neighboring gene eukaryotic translation elongation factor 1 gamma, pseudogene 2 Neighboring gene desmocollin 1 Neighboring gene leucine aminopeptidase 3, pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers. Wong JA, et al. J Am Heart Assoc, 2014 Dec 11. PMID 25497880, Free PMC Article
    2. Reduced expression of adherens and gap junction proteins can have a fundamental role in the development of heart failure following cardiac hypertrophy in rats. dos Santos DO, et al. Exp Mol Pathol, 2016 Feb. PMID 26708424
    3. MicroRNA-130a Regulation of Desmocollin 2 in a Novel Model of Arrhythmogenic Cardiomyopathy. Mazurek SR, et al. Microrna, 2017. PMID 27834139, Free PMC Article
    4. Desmosomal cadherins are decreased in explanted arrhythmogenic right ventricular dysplasia/cardiomyopathy patient hearts. Vite A, et al. PLoS One, 2013. PMID 24086444, Free PMC Article
    5. Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Gerull B, et al. Circ Cardiovasc Genet, 2013 Aug. PMID 23863954

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC124744

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cardiac muscle cell-cardiac muscle cell adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cellular response to starvation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of heart rate by cardiac conduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of ventricular cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in adherens junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in desmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in desmosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intercalated disc ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    desmocollin-2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001033688.2 → NP_001028860.2  desmocollin-2 precursor

      Status: PROVISIONAL

      Source sequence(s)
      JAXUCZ010000018
      UniProtKB/TrEMBL
      D3ZJR7, Q3T1K6
      Related
      ENSRNOP00000058135.5, ENSRNOT00000061417.6
      Conserved Domains (4) summary
      cd11304
      Location:247 → 351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:31 → 111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360 → 462
      Cadherin; Cadherin domain
      pfam01049
      Location:853 → 902
      Cadherin_C; Cadherin cytoplasmic region

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086036.1 Reference GRCr8

      Range
      11725466..11757591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_008771935.4 → XP_008770157.2  desmocollin-2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2K3I3, A6J2F3
      Related
      ENSRNOP00000072649.2, ENSRNOT00000082891.3
      Conserved Domains (3) summary
      cd11304
      Location:247 → 351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:31 → 111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360 → 462
      Cadherin; Cadherin domain
    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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