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Dsc2 desmocollin 2 [ Mus musculus (house mouse) ]

Gene ID: 13506, updated on 26-Nov-2016
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; Sciurognathi; 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]
Orthologs
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

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
 
extracellular exosome 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
    UniProtKB/Swiss-Prot
    P55292
    UniProtKB/TrEMBL
    Q544V1
    Related
    ENSMUSP00000074702, OTTMUSP00000032551, ENSMUST00000075214, 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, OTTMUSP00000032550, ENSMUST00000039247, 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 details...Open this link in a new tab

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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