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Dsc2 desmocollin 2 [ Mus musculus (house mouse) ]

Gene ID: 13506, updated on 11-Apr-2024

Summary

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
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Genomic context

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

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)
  • Targeted (3) 
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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

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_001317363.1NP_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
    Q6PEU5
    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, Q64734
    UniProtKB/TrEMBL
    Q6PEU5
    Related
    ENSMUSP00000074702.3, ENSMUST00000075214.9
    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/TrEMBL
    Q544V1, Q6PEU5
    Related
    ENSMUSP00000042905.5, ENSMUST00000039247.11
    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: 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)