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Dsc2 desmocollin 2 [ Mus musculus (house mouse) ]

Gene ID: 13506, updated on 9-Dec-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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See Dsc2 in Genome Data Viewer
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 (48) 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)
  • Endonuclease-mediated (2) 
  • Targeted (3) 

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 calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication IEA
Inferred from Electronic Annotation
more info
  
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 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 positive regulation of p38MAPK cascade IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of heart rate by cardiac conduction 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 IEA
Inferred from Electronic Annotation
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 cytoplasmic vesicle 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 IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
located_in intercalated disc IEA
Inferred from Electronic Annotation
more info
  
located_in intercalated disc ISO
Inferred from Sequence Orthology
more info
  
located_in plasma 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

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