Dsg2 desmoglein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dsg2provided by MGI
Official Full Name: desmoglein 2provided by MGI
Primary source: MGI:MGI:1196466
See related: Ensembl:ENSMUSG00000044393 AllianceGenome:MGI:1196466
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D18Ertd293e
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 die in utero. Mutant mice lacking a part of the extracellular adhesive domain of the encoded protein develop cardiac fibrosis and dilation. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]
Expression: Broad expression in large intestine adult (RPKM 25.2), colon adult (RPKM 24.6) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 A2; 18 11.42 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (20691247..20737583)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (20558074..20604526)

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?

Hyperactivation of ATF4/TGF-beta1 signaling contributes to the progressive cardiac fibrosis in Arrhythmogenic cardiomyopathy caused by DSG2 Variant.
Title: Hyperactivation of ATF4/TGF-β1 signaling contributes to the progressive cardiac fibrosis in Arrhythmogenic cardiomyopathy caused by DSG2 Variant.
The role of desmoglein-2 in kidney disease.
Title: The role of desmoglein-2 in kidney disease.
Desmoglein 2 Functions as a Receptor for Fatty Acid Binding Protein 4 in Breast Cancer Epithelial Cells.
Title: Desmoglein 2 Functions as a Receptor for Fatty Acid Binding Protein 4 in Breast Cancer Epithelial Cells.
Up-regulation of Dsg2 confered stem cells with malignancy through wnt/beta-catenin signaling pathway.
Title: Up-regulation of Dsg2 confered stem cells with malignancy through wnt/β-catenin signaling pathway.
Desmoglein-2 is important for islet function and beta-cell survival.
Title: Desmoglein-2 is important for islet function and β-cell survival.
Activation of PPARalpha Ameliorates Cardiac Fibrosis in Dsg2-Deficient Arrhythmogenic Cardiomyopathy.
Title: Activation of PPARα Ameliorates Cardiac Fibrosis in Dsg2-Deficient Arrhythmogenic Cardiomyopathy.
Desmoglein 2 regulates cardiogenesis by restricting hematopoiesis in the developing murine heart.
Title: Desmoglein 2 regulates cardiogenesis by restricting hematopoiesis in the developing murine heart.
Found that the expression of skeletal muscle actin (Acta1) was increased in the myocardium of Dsg2 mutant and Dsg2cKO mice prior to lesion formation, and show that Acta1 expression further increases during disease progression with a conspicuous accumulation of F-actin at intercalated discs
Title: Desmoglein 2 mutation provokes skeletal muscle actin expression and accumulation at intercalated discs in murine hearts.
Dsg2 expression dramatically enhances the rate of spontaneous basal cell carcinoma (BCC) formation in mouse models of Gorlin syndrome. In vitro studies showed that Dsg2 potentiates canonical hedgehog (Hh) signaling and Stat3 activation in ASZ001 BCC cells in both an autocrine and paracrine manner. Data showed that Dsg2 induces a paracrine mediator that stimulates the canonical Hh signaling through Stat3.
Title: Overexpression of Desmoglein 2 in a Mouse Model of Gorlin Syndrome Enhances Spontaneous Basal Cell Carcinoma Formation through STAT3-Mediated Gli1 Expression.
This study demonstrates that Dsg2 induces epidermal activation of various signaling cascades and accelerates cutaneous wound healing, in part, through urokinase-type plasminogen activator receptor-related signaling cascades
Title: Enhancement of Cutaneous Wound Healing by Dsg2 Augmentation of uPAR Secretion.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

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

Chemically induced (ENU) (3)
Endonuclease-mediated (4) 1 citation
Gene trapped (1)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126772 (e-PCR)
- UniSTS:167233

Dsg2 (e-PCR), detects polymorphism
- UniSTS:257217

BB237469 (e-PCR)
- UniSTS:209360

AJ000328 (e-PCR)
- UniSTS:160722

RH124679 (e-PCR)
- UniSTS:161501

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 cell adhesion molecule binding	IEA Inferred from Electronic Annotation more info
enables cell adhesion molecule binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Purkinje myocyte development	IEA Inferred from Electronic Annotation more info
involved_in Purkinje myocyte development	ISO Inferred from Sequence Orthology more info
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 cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in desmosome organization	IEA Inferred from Electronic Annotation more info
involved_in desmosome organization	ISO Inferred from Sequence Orthology more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	ISO Inferred from Sequence Orthology more info
involved_in maternal process involved in female pregnancy	IEA Inferred from Electronic Annotation more info
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
involved_in response to progesterone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell junction	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 intercalated disc	IEA Inferred from Electronic Annotation more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: desmoglein-2

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.