Dsg3 desmoglein 3 [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

T cell autoimmunity and immune regulation to desmoglein 3, a pemphigus autoantigen.
Title: T cell autoimmunity and immune regulation to desmoglein 3, a pemphigus autoantigen.
IgM to IgG Class Switching Is a Necessary Step for Pemphigus Phenotype Induction in Desmoglein 3-Specific B Cell Receptor Knock-in Mouse.
Title: IgM to IgG Class Switching Is a Necessary Step for Pemphigus Phenotype Induction in Desmoglein 3-Specific B Cell Receptor Knock-in Mouse.
Imiquimod-induced dermatitis impairs thymic tolerance of autoreactive CD4(+) T cells to desmoglein 3.
Title: Imiquimod-induced dermatitis impairs thymic tolerance of autoreactive CD4(+) T cells to desmoglein 3.
The desmosomal cadherin desmoglein-3 acts as a keratinocyte anti-stress protein via suppression of p53.
Title: The desmosomal cadherin desmoglein-3 acts as a keratinocyte anti-stress protein via suppression of p53.
silencing DSG3 could inhibit the activation of the Wnt/beta-catenin signaling pathway, thus alleviating chronic rhinosinusitis.
Title: Desmoglein 3 Silencing Inhibits Inflammation and Goblet Cell Mucin Secretion in a Mouse Model of Chronic Rhinosinusitis via Disruption of the Wnt/β-Catenin Signaling Pathway.
flotillin has a role in desmosomal adhesion and Pemphigus vulgaris-like localisation of desmoglein-3 in human keratinocytes
Title: Loss of flotillin expression results in weakened desmosomal adhesion and Pemphigus vulgaris-like localisation of desmoglein-3 in human keratinocytes.
Desmoglein 3 deficiency in mice leads to a phenotype characterized by cyclic alopecia in addition to the dramatic skin and mucocutaneous acantholysis observed in pemphigus patients.
Title: A spontaneous deletion within the desmoglein 3 extracellular domain of mice results in hypomorphic protein expression, immunodeficiency, and a wasting disease phenotype.
Dsg3, via p38 MAPK, regulates the spatial distribution of the keratin filament network and stabilizes cell adhesion.
Title: Desmoglein 2 compensates for desmoglein 3 but does not control cell adhesion via regulation of p38 mitogen-activated protein kinase in keratinocytes.
Squamous metaplasia after pulmonary epithelial injury may play a crucial role in redirecting the skin-specific autoimmune reaction to the lungs in paraneoplastic pemphigus (PNP).
Title: Ectopic expression of epidermal antigens renders the lung a target organ in paraneoplastic pemphigus.
Dsg3 deficiency results in perturbation of the desmosomal network at the transcriptional, translational, and interaction level, kinase activation, proteinase-mediated degradation, and hyper-adhesion. (Review)
Title: Desmosomal adhesion and pemphigus vulgaris: the first half of the story.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

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

Endonuclease-mediated (2)
Spontaneous (4) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Dsg3 (e-PCR), detects polymorphism
- UniSTS:257218

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 dimerization activity	IDA Inferred from Direct Assay more info	PubMed

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
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 plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in spot adherens junction	TAS Traceable Author Statement more info	PubMed

General protein information

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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)

NM_030596.4 → NP_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:161 → 263

Cadherin_repeat; Cadherin tandem repeat domain

smart00112
Location:75 → 155

CA; Cadherin repeats

pfam00028
Location:272 → 375

Cadherin; Cadherin domain

pfam01049
Location:790 → 837

Cadherin_C; Cadherin cytoplasmic region