DSG2 (desmoglein 2)
2009-11-01 Masakazu Yashiro   AffiliationThe Department of Surgical Oncology, Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi, Abeno-ku, Osaka 545-8585, Japan
DNA/RNA
Description
Desmoglein-2 gene maps on chromosome 18q12.1.
Transcription
15 exons; Transcript length: 5,652 bps.
Proteins
Description
A transmembrane glycoprotein of 1,118 amino acids, which has a molecular mass ranging 97 to 18 kDa. Desmoglein-2 is a calcium-binding transmembrane glycoprotein component of desmosomes.
Expression
Desmoglein-2 (DSG2) is expressed on various cells including simple epithelia and myocardium, tumors and and many cell cultures. By contrast, the epidermal isoforms DSG1 and DSG3 are restricted to certain specialized epithelia, mostly stratified squamous ones (Schafer et al., 1994).
Function
Epithelial cell-cell adhesion is important in tumor development. Dsgs are transmembrane glycoproteins of the desmosome, a cell-cell adhesive structure prominent in epithelial tissues, which have been reported to be associated with tumor development (Tselepis et al., 1998). cDNA and protein studies have revealed that there are subfamilies of DSG (types 1, 2 and 3) and DSC (types 1, 2 and 3) (Buxton et al., 1993). DSG2 and DSC2 are widely expressed and are found together in desmosomes of the basal layer of stratified epithelia, simple epithelia, and nonepithelial cells such as in the myocardium of the heart and lymph node follicles, whereas DSG3/DSC3 and DSG1/DSC1 are more restricted to complex epithelial tissues. Although considerable overlap is exhibited in the distribution of these isoforms in stratified tissues, their expression is clearly differentiation-dependent. DSG2, but not DSG1 or DSG3, is expressed in stomach epithelia.
Implicated in
Entity name
Gastric cancer
Disease
DSG2, but not type 1 or 3, is expressed in stomach epithelia. Decreased expression of DSG2 is involved in a subset of gastric carcinomas, in particular diffuse-type gastric cancers, and poor prognosis in gastric carcinoma (Biedermann et al., 2005; Yashiro et al., 2006).
Entity name
Skin cancer
Disease
DSG2 is highly regulated in cutaneous squamous cell carcinoma, and correlates with risk of metastasis (Kurzen et al., 2003). Overexpression of DSG2 in epidermal keratinocytes deregulates multiple signaling pathways associated with increased growth rate, and the enhanced activation of multiple growth and survival pathways, including the phosphatidylinositol 3-kinase, mitogen activated protein kinase, STAT3 and NF-kB pathways, is observed (Brennan et al., 2007).
Entity name
Pancreas cancer
Disease
Levels of DSG1 and DSG2 are reduced in pancreatic tumors (Ramani et al., 2008).
Entity name
Arrhythmogenic right ventricular dysplasia
Disease
Mutations in DSG2 contribute to the development of arrhythmogenic right ventricular dysplasia/cardiomyopathy (Pilichou et al., 2006; Awad et al., 2006).
Entity name
Pemphigus
Disease
Pemphigus represents a distinct organ-specific acquired autoimmune disease characterized by intra-epidermal blistering, which is induced by autoantibodies against desmosomal cadherins, DSG1 and DSG3 (Kitajima and Aoyama, 2007).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16773573 | 2006 | DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. | Awad MM et al |
| 16025435 | 2005 | Desmoglein 2 is expressed abnormally rather than mutated in familial and sporadic gastric cancer. | Biedermann K et al |
| 17284515 | 2007 | Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes. | Brennan D et al |
| 8486729 | 1993 | Nomenclature of the desmosomal cadherins. | Buxton RS et al |
| 18094947 | 2007 | A perspective of pemphigus from bedside and laboratory-bench. | Kitajima Y et al |
| 14744087 | 2003 | Expression of desmosomal proteins in squamous cell carcinomas of the skin. | Kurzen H et al |
| 16505173 | 2006 | Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. | Pilichou K et al |
| 19091121 | 2008 | Desmoglein 2 is a substrate of kallikrein 7 in pancreatic cancer. | Ramani VC et al |
| 8143788 | 1994 | Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins. | Schäfer S et al |
| 9653140 | 1998 | Desmosomal adhesion inhibits invasive behavior. | Tselepis C et al |
| 16890424 | 2006 | Decreased expression of the adhesion molecule desmoglein-2 is associated with diffuse-type gastric carcinoma. | Yashiro M et al |
Other Information
Locus ID:
NCBI: 1829
MIM: 125671
HGNC: 3049
Ensembl: ENSG00000046604
Variants:
dbSNP: 1829
ClinVar: 1829
TCGA: ENSG00000046604
COSMIC: DSG2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000046604 | ENST00000261590 | Q14126 |
| ENSG00000046604 | ENST00000585206 | J3KSI6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA134871907 | TMEM43 | Gene | DataAnnotation | associated | |||
| PA27489 | DSC2 | Gene | DataAnnotation | associated | |||
| PA27505 | DSP | Gene | DataAnnotation | associated | |||
| PA33357 | PKP2 | Gene | DataAnnotation | associated | |||
| PA446847 | Arrhythmogenic Right Ventricular Dysplasia | Disease | DataAnnotation, Literature, MultilinkAnnotation | associated | 23788249 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38375917 | 2024 | Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia. | 0 |
| 38395410 | 2024 | The role of desmoglein-2 in kidney disease. | 0 |
| 38411280 | 2024 | Serine/threonine-protein kinase D2-mediated phosphorylation of DSG2 threonine 730 promotes esophageal squamous cell carcinoma progression. | 0 |
| 38671389 | 2024 | Desmoglein 2 and desmocollin 2 depletions promote malignancy through distinct mechanisms in triple-negative and luminal breast cancer. | 0 |
| 38375917 | 2024 | Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia. | 0 |
| 38395410 | 2024 | The role of desmoglein-2 in kidney disease. | 0 |
| 38411280 | 2024 | Serine/threonine-protein kinase D2-mediated phosphorylation of DSG2 threonine 730 promotes esophageal squamous cell carcinoma progression. | 0 |
| 38671389 | 2024 | Desmoglein 2 and desmocollin 2 depletions promote malignancy through distinct mechanisms in triple-negative and luminal breast cancer. | 0 |
| 36259602 | 2023 | Downregulation of desmoglein 2 promotes EMT progression in gallbladder cancer. | 1 |
| 37115197 | 2023 | Desmoglein 2 Functions as a Receptor for Fatty Acid Binding Protein 4 in Breast Cancer Epithelial Cells. | 2 |
| 37815458 | 2023 | Desmoglein-2 and COVID-19 complications: insights into its role as a biomarker, pathogenesis and clinical implications. | 0 |
| 37921471 | 2023 | Toward the understanding of DSG2 and CD46 interaction with HAdV-11 fiber, a super-complex analysis. | 0 |
| 36259602 | 2023 | Downregulation of desmoglein 2 promotes EMT progression in gallbladder cancer. | 1 |
| 37115197 | 2023 | Desmoglein 2 Functions as a Receptor for Fatty Acid Binding Protein 4 in Breast Cancer Epithelial Cells. | 2 |
| 37815458 | 2023 | Desmoglein-2 and COVID-19 complications: insights into its role as a biomarker, pathogenesis and clinical implications. | 0 |
Citation
Masakazu Yashiro
DSG2 (desmoglein 2)
Atlas Genet Cytogenet Oncol Haematol. 2009-11-01
Online version: http://atlasgeneticsoncology.org/gene/40367/dsg2-(desmoglein-2)
