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    Dsc2 desmocollin 2 [ Mus musculus (house mouse) ]

    Gene ID: 13506, updated on 1-Apr-2018
    Official Symbol
    Dsc2provided by MGI
    Official Full Name
    desmocollin 2provided by MGI
    Primary source
    MGI:MGI:103221
    See related
    Ensembl:ENSMUSG00000024331 Vega:OTTMUSG00000026419
    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
    Also known as
    AW228162
    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
    See Dsc2 in Genome Data Viewer
    Location:
    18 A2; 18 11.14 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 18 NC_000084.6 (20030633..20059554, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 18 NC_000084.5 (20189299..20218006, complement)

    Chromosome 18 - NC_000084.6Genomic Context describing neighboring genes Neighboring gene predicted gene 7720 Neighboring gene desmocollin 3 Neighboring gene desmocollin 1 Neighboring gene desmoglein 1 gamma

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    bundle of His cell-Purkinje myocyte adhesion involved in cell communication ISO
    Inferred from Sequence Orthology
    more info
     
    cardiac muscle cell-cardiac muscle cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to starvation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of heart rate by cardiac conduction ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of ventricular cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    desmosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    desmosome ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intercalated disc ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    desmocollin-2
    Names
    epithelial type 2 desmocollin

    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_001317363.1NP_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
      Q544V1
      Conserved Domains (2) summary
      cd11304
      Location:105208
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam00028
      Location:217304
      Cadherin; Cadherin domain
    2. NM_001317365.1NP_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
      UniProtKB/TrEMBL
      Q544V1
      Related
      ENSMUSP00000074702.2, OTTMUSP00000032551, ENSMUST00000075214.8, OTTMUST00000065336
      Conserved Domains (4) summary
      cd11304
      Location:248351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:31111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360447
      Cadherin; Cadherin domain
      pfam01049
      Location:853897
      Cadherin_C; Cadherin cytoplasmic region
    3. NM_013505.4NP_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/Swiss-Prot
      P55292
      UniProtKB/TrEMBL
      Q544V1
      Related
      ENSMUSP00000042905.4, OTTMUSP00000032550, ENSMUST00000039247.10, OTTMUST00000065335
      Conserved Domains (3) summary
      cd11304
      Location:248351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:31111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360447
      Cadherin; Cadherin domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000084.6 Reference GRCm38.p4 C57BL/6J

      Range
      20030633..20059554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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