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    Dsc2 desmocollin 2 [ Mus musculus (house mouse) ]

    Gene ID: 13506, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Dsc2provided by MGI
    Official Full Name
    desmocollin 2provided by MGI
    Primary source
    MGI:MGI:103221
    See related
    Ensembl:ENSMUSG00000024331 AllianceGenome:MGI:103221
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
    Expression
    Biased expression in placenta adult (RPKM 20.2), large intestine adult (RPKM 17.3) and 14 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    18 A2; 18 11.14 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (20163690..20192611, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (20030633..20059554, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_43952 Neighboring gene predicted gene 7720 Neighboring gene STARR-seq mESC enhancer starr_43953 Neighboring gene STARR-seq mESC enhancer starr_43954 Neighboring gene STARR-seq mESC enhancer starr_43955 Neighboring gene STARR-seq mESC enhancer starr_43956 Neighboring gene desmocollin 3 Neighboring gene desmocollin 1 Neighboring gene STARR-seq mESC enhancer starr_43958 Neighboring gene STARR-seq mESC enhancer starr_43959 Neighboring gene STARR-seq mESC enhancer starr_43960 Neighboring gene desmoglein 1 gamma

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Cloning, sequence analysis and expression pattern of mouse desmocollin 2 (DSC2), a cadherin-like adhesion molecule. Lorimer JE, et al. Mol Membr Biol, 1994 Oct-Dec. PMID 7711832
    2. Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2. Raya-Sandino A, et al. Mol Biol Cell, 2021 Apr 15. PMID 33596089, Free PMC Article
    3. Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration. Flemming S, et al. Mol Biol Cell, 2020 Mar 15. PMID 31967937, Free PMC Article
    4. Desmoglein 2, but not desmocollin 2, protects intestinal epithelia from injury. Gross A, et al. Mucosal Immunol, 2018 Nov. PMID 30115995
    5. Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling. Brodehl A, et al. PLoS One, 2017. PMID 28339476, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2.
      Title: Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2.
    2. Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration.
      Title: Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration.
    3. these results demonstrate that Dsg2, but not desmocollin 2 is required for the integrity of the intestinal epithelial barrier in vivo
      Title: Desmoglein 2, but not desmocollin 2, protects intestinal epithelia from injury.
    4. Downregulation of DSC2 is associated with arrhythmogenic cardiomyopathy.
      Title: MicroRNA-130a Regulation of Desmocollin 2 in a Novel Model of Arrhythmogenic Cardiomyopathy.
    5. Cardiac specific overexpression of desmocollin-2 induces necrosis, acute inflammation and patchy cardiac fibrotic remodeling leading to fulminant biventricular cardiomyopathy.
      Title: Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling.
    6. Data demonstrate that partner desmosomal cadherins Dsg2 and Dsc2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR signaling.
      Title: Loss of the desmosomal cadherin desmoglein-2 suppresses colon cancer cell proliferation through EGFR signaling.
    7. plakoglobin (Pg) in conjunction with lymphoid enhancer-binding factor 1 (Lef-1) differentially regulates the proximal promoters of Dsc2 and Dsc3
      Title: Plakoglobin as a regulator of desmocollin gene expression.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3) 
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    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
    		  
    acts_upstream_of_or_within cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    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 IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in desmosome ISO
    Inferred from Sequence Orthology
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    desmocollin-2
    Names
    epithelial type 2 desmocollin

    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_001317363.1 → NP_001304292.1  desmocollin-2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate exon in its 5' UTR, uses a downstream in-frame start codon, and contains an additional exon at the 3' end, compared to variant Dsc2a. The encoded isoform (3) has a shorter N-terminus and a shorter and distinct C-terminus, compared to isoform Dsc2a.
      Source sequence(s)
      AK028604, AK048547, BY093917, BY422831, BY425109
      UniProtKB/TrEMBL
      Q6PEU5
      Conserved Domains (2) summary
      cd11304
      Location:105 → 208
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam00028
      Location:217 → 304
      Cadherin; Cadherin domain

    2. NM_001317365.1 → NP_001304294.1  desmocollin-2 isoform Dsc2a preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Dsc2a) encodes the longest isoform (Dsc2a).
      Source sequence(s)
      AK048547, BY093917, BY422831, BY425109
      Consensus CDS
      CCDS84361.1
      UniProtKB/Swiss-Prot
      P55292, Q64734
      UniProtKB/TrEMBL
      Q6PEU5
      Related
      ENSMUSP00000074702.3, ENSMUST00000075214.9
      Conserved Domains (4) summary
      cd11304
      Location:248 → 351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:31 → 111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360 → 447
      Cadherin; Cadherin domain
      pfam01049
      Location:853 → 897
      Cadherin_C; Cadherin cytoplasmic region

    3. NM_013505.4 → NP_038533.1  desmocollin-2 isoform Dsc2b preproprotein

      See identical proteins and their annotated locations for NP_038533.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Dsc2b) contains an additional exon at the 3' end, which results in a frameshift, compared to variant Dsc2a. The encoded isoform (Dsc2b) has a shorter and distinct C-terminus compared to isoform Dsc2a.
      Source sequence(s)
      AK048547, BY093917, BY422831, BY425109
      Consensus CDS
      CCDS29077.1
      UniProtKB/TrEMBL
      Q544V1, Q6PEU5
      Related
      ENSMUSP00000042905.5, ENSMUST00000039247.11
      Conserved Domains (3) summary
      cd11304
      Location:248 → 351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:31 → 111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360 → 447
      Cadherin; Cadherin domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      20163690..20192611 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55292.1 GenPept UniProtKB/Swiss-Prot:P55292

    Gene LinkOut

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