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Dsc2 desmocollin 2 [ Rattus norvegicus (Norway rat) ]

Gene ID: 291760, updated on 14-Nov-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; endoplasmic reticulum; and intercalated disc. Predicted to be active in desmosome. Biomarker of acute myocardial infarction and dilated cardiomyopathy. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and arrhythmogenic right ventricular dysplasia 11. Orthologous to human DSC2 (desmocollin 2). [provided by Alliance of Genome Resources, Nov 2024]
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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See Dsc2 in Genome Data Viewer
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 positive regulation of p38MAPK cascade IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of p38MAPK cascade ISO
Inferred from Sequence Orthology
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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