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DSG2 (desmoglein 2)
Masakazu Yashiro
The Department of Surgical Oncology, Osaka City University Graduate School of Medicine, 1-4-3
Asahimachi, Abeno-ku, Osaka 545-8585, Japan (MY)
Published in Atlas Database: November 2009
Online updated version : http://AtlasGeneticsOncology.org/Genes/DSG2ID40367ch18q12.html
DOI: 10.4267/2042/44839
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2010 Atlas of Genetics and Cytogenetics in Oncology and Haematology
(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.
Identity
Other names: ARVC10; ARVD10; CDHF5; HDGC;
MGC117034; MGC117036; MGC117037
HGNC (Hugo): DSG2
Location: 18q12.1
DNA/RNA
Description
Desmoglein-2 gene maps on chromosome 18q12.1.
Transcription
15 exons; Transcript length: 5,652 bps.
Protein
Implicated in
Description
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 diffusetype gastric cancers, and poor prognosis in gastric
carcinoma (Biedermann et al., 2005; Yashiro et al.,
2006).
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).
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).
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
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(9)
815
DSG2 (desmoglein 2)
Yashiro M
Kurzen H, Münzing I, Hartschuh W. Expression of desmosomal
proteins in squamous cell carcinomas of the skin. J Cutan
Pathol. 2003 Nov;30(10):621-30
Pancreas cancer
Disease
Levels of DSG1 and DSG2 are reduced in pancreatic
tumors (Ramani et al., 2008).
Biedermann K, Vogelsang H, Becker I, Plaschke S, Siewert
JR, Höfler H, Keller G. Desmoglein 2 is expressed abnormally
rather than mutated in familial and sporadic gastric cancer. J
Pathol. 2005 Oct;207(2):199-206
Arrhythmogenic right ventricular
dysplasia
Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell
C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H,
Judge DP. DSG2 mutations contribute to arrhythmogenic right
ventricular dysplasia/cardiomyopathy. Am J Hum Genet. 2006
Jul;79(1):136-42
Disease
Mutations in DSG2 contribute to the development of
arrhythmogenic
right
ventricular
dysplasia/cardiomyopathy (Pilichou et al., 2006; Awad
et al., 2006).
Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon
A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli
GA, Rampazzo A. Mutations in desmoglein-2 gene are
associated
with
arrhythmogenic
right
ventricular
cardiomyopathy. Circulation. 2006 Mar 7;113(9):1171-9
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).
Yashiro M, Nishioka N, Hirakawa K. Decreased expression of
the adhesion molecule desmoglein-2 is associated with diffusetype gastric carcinoma. Eur J Cancer. 2006 Sep;42(14):2397403
Brennan D, Hu Y, Joubeh S, Choi YW, Whitaker-Menezes D,
O'Brien T, Uitto J, Rodeck U, Mahoney MG. Suprabasal Dsg2
expression
in
transgenic
mouse
skin
confers
a
hyperproliferative and apoptosis-resistant phenotype to
keratinocytes. J Cell Sci. 2007 Mar 1;120(Pt 5):758-71
References
Buxton RS, Cowin P, Franke WW, Garrod DR, Green KJ, King
IA, Koch PJ, Magee AI, Rees DA, Stanley JR. Nomenclature of
the desmosomal cadherins. J Cell Biol. 1993 May;121(3):481-3
Kitajima Y, Aoyama Y. A perspective of pemphigus from
bedside and laboratory-bench. Clin Rev Allergy Immunol. 2007
Oct;33(1-2):57-66
Schäfer S, Koch PJ, Franke WW. Identification of the
ubiquitous human desmoglein, Dsg2, and the expression
catalogue of the desmoglein subfamily of desmosomal
cadherins. Exp Cell Res. 1994 Apr;211(2):391-9
Ramani VC, Hennings L, Haun RS. Desmoglein 2 is a
substrate of kallikrein 7 in pancreatic cancer. BMC Cancer.
2008 Dec 17;8:373
Tselepis C, Chidgey M, North A, Garrod D. Desmosomal
adhesion inhibits invasive behavior. Proc Natl Acad Sci U S A.
1998 Jul 7;95(14):8064-9
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(9)
This article should be referenced as such:
Yashiro M. DSG2 (desmoglein 2). Atlas Genet Cytogenet
Oncol Haematol. 2010; 14(9):815-816.
816