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Dsg3 desmoglein 3 [ Mus musculus (house mouse) ]

Gene ID: 13512, updated on 8-Feb-2024

Summary

Official Symbol
Dsg3provided by MGI
Official Full Name
desmoglein 3provided by MGI
Primary source
MGI:MGI:99499
See related
Ensembl:ENSMUSG00000056632 AllianceGenome:MGI:99499
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
bal
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 exhibit loss of keratinocyte cell adhesion resulting in a phenotype that resembles that of patients with pemphigus vulgaris. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]
Expression
Biased expression in stomach adult (RPKM 2.1), lung adult (RPKM 1.0) and 4 other tissues See more
Orthologs
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Genomic context

See Dsg3 in Genome Data Viewer
Location:
18 A2; 18 11.39 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (20643331..20674367)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (20510274..20541310)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene desmoglein 4 Neighboring gene STARR-seq mESC enhancer starr_43965 Neighboring gene STARR-seq mESC enhancer starr_43966 Neighboring gene tubulin, alpha 1C pseudogene Neighboring gene triosephosphate isomerase related sequence 10 Neighboring gene predicted gene, 46630

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)

Pathways from PubChem

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 calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within cell adhesion TAS
Traceable Author Statement
more info
PubMed 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
is_active_in desmosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in desmosome TAS
Traceable Author Statement
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in spot adherens junction TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
desmoglein-3
Names
130 kDa pemphigus vulgaris antigen homolog

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_030596.4NP_085099.2  desmoglein-3 preproprotein

    See identical proteins and their annotated locations for NP_085099.2

    Status: REVIEWED

    Source sequence(s)
    AK037142, AK148657
    Consensus CDS
    CCDS29083.1
    UniProtKB/Swiss-Prot
    O35902, Q8CB02, Q8CE48
    UniProtKB/TrEMBL
    Q3UFC6
    Related
    ENSMUSP00000064718.7, ENSMUST00000070892.8
    Conserved Domains (4) summary
    cd11304
    Location:161263
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:75155
    CA; Cadherin repeats
    pfam00028
    Location:272375
    Cadherin; Cadherin domain
    pfam01049
    Location:790837
    Cadherin_C; Cadherin cytoplasmic region

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
    20643331..20674367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)