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    Dsg2 desmoglein 2 [ Mus musculus (house mouse) ]

    Gene ID: 13511, updated on 9-Dec-2024

    Summary

    Official Symbol
    Dsg2provided by MGI
    Official Full Name
    desmoglein 2provided by MGI
    Primary source
    MGI:MGI:1196466
    See related
    Ensembl:ENSMUSG00000044393 AllianceGenome:MGI:1196466
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    D18Ertd293e
    Summary
    This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Mice lacking the encoded protein die in utero. Mutant mice lacking a part of the extracellular adhesive domain of the encoded protein develop cardiac fibrosis and dilation. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]
    Expression
    Broad expression in large intestine adult (RPKM 25.2), colon adult (RPKM 24.6) and 16 other tissues See more
    Orthologs
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    Genomic context

    See Dsg2 in Genome Data Viewer
    Location:
    18 A2; 18 11.42 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (20691247..20737583)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (20558074..20604526)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene triosephosphate isomerase related sequence 10 Neighboring gene predicted gene, 46630 Neighboring gene STARR-seq mESC enhancer starr_43967 Neighboring gene predicted gene 16090 Neighboring gene transthyretin Neighboring gene ribosomal protein L35 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (3) 
    • Endonuclease-mediated (4)  1 citation
    • Gene trapped (1) 
    • Targeted (7)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding  
    enables calcium ion binding  
    enables cell adhesion molecule binding  
    enables cell adhesion molecule binding  
    Process Evidence Code Pubs
    involved_in Purkinje myocyte development  
    involved_in Purkinje myocyte development  
    involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication  
    involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication  
    involved_in cell adhesion  
    involved_in cell-cell adhesion  
    involved_in desmosome organization  
    involved_in desmosome organization  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules  
    involved_in maternal process involved in female pregnancy  
    involved_in regulation of heart rate by cardiac conduction  
    involved_in regulation of heart rate by cardiac conduction  
    involved_in regulation of ventricular cardiac muscle cell action potential  
    involved_in regulation of ventricular cardiac muscle cell action potential  
    involved_in response to progesterone  
    Component Evidence Code Pubs
    located_in apical plasma membrane  
    located_in apical plasma membrane  
    located_in cell junction  
    is_active_in desmosome  
    located_in desmosome PubMed 
    located_in desmosome  
    located_in intercalated disc  
    located_in intercalated disc  
    located_in intracellular membrane-bounded organelle  
    located_in intracellular membrane-bounded organelle  
    located_in lateral plasma membrane  
    located_in lateral plasma membrane  
    located_in plasma membrane  

    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_007883.4NP_031909.2  desmoglein-2 preproprotein

      See identical proteins and their annotated locations for NP_031909.2

      Status: VALIDATED

      Source sequence(s)
      AC132091
      Consensus CDS
      CCDS29084.1
      UniProtKB/Swiss-Prot
      A2RRJ0, O55111, Q8K069, Q8R517
      Related
      ENSMUSP00000057096.9, ENSMUST00000059787.15
      Conserved Domains (1) summary
      cd11304
      Location:168273
      Cadherin_repeat; Cadherin tandem repeat 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
      20691247..20737583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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