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DSG2 (desmoglein 2)

Written2009-11Masakazu Yashiro
The Department of Surgical Oncology, Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi, Abeno-ku, Osaka 545-8585, Japan

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)CDHF5
Other aliasARVC10
ARVD10
HDGC
MGC117034
MGC117036
MGC117037
HGNC (Hugo) DSG2
LocusID (NCBI) 1829
Atlas_Id 40367
Location 18q12.1  [Link to chromosome band 18q12]
Location_base_pair Starts at 29077967 and ends at 29128970 bp from pter ( according to hg19-Feb_2009)  [Mapping DSG2.png]
Fusion genes
(updated 2016)
ACTN4 (19q13.2) / DSG2 (18q12.1)DSG2 (18q12.1) / DSG2 (18q12.1)DSG2 (18q12.1) / FAF2 (5q35.2)
DSG2 (18q12.1) / GTF2E1 (3q13.33)ITPRIPL2 (16p12.3) / DSG2 (18q12.1)SMG6 (17p13.3) / DSG2 (18q12.1)

DNA/RNA

Description Desmoglein-2 gene maps on chromosome 18q12.1.
Transcription 15 exons; Transcript length: 5,652 bps.

Protein

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

Note
  
Entity 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 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 Pancreas cancer
Disease Levels of DSG1 and DSG2 are reduced in pancreatic tumors (Ramani et al., 2008).
  
  
Entity 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 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).
  

Bibliography

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
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.
Am J Hum Genet. 2006 Jul;79(1):136-42. Epub 2006 Apr 28.
PMID 16773573
 
Desmoglein 2 is expressed abnormally rather than mutated in familial and sporadic gastric cancer.
Biedermann K, Vogelsang H, Becker I, Plaschke S, Siewert JR, Hofler H, Keller G.
J Pathol. 2005 Oct;207(2):199-206.
PMID 16025435
 
Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes.
Brennan D, Hu Y, Joubeh S, Choi YW, Whitaker-Menezes D, O'Brien T, Uitto J, Rodeck U, Mahoney MG.
J Cell Sci. 2007 Mar 1;120(Pt 5):758-71. Epub 2007 Feb 6.
PMID 17284515
 
Nomenclature of the desmosomal cadherins.
Buxton RS, Cowin P, Franke WW, Garrod DR, Green KJ, King IA, Koch PJ, Magee AI, Rees DA, Stanley JR, et al.
J Cell Biol. 1993 May;121(3):481-3. (REVIEW)
PMID 8486729
 
A perspective of pemphigus from bedside and laboratory-bench.
Kitajima Y, Aoyama Y.
Clin Rev Allergy Immunol. 2007 Oct;33(1-2):57-66. (REVIEW)
PMID 18094947
 
Expression of desmosomal proteins in squamous cell carcinomas of the skin.
Kurzen H, Munzing I, Hartschuh W.
J Cutan Pathol. 2003 Nov;30(10):621-30.
PMID 14744087
 
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.
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.
Circulation. 2006 Mar 7;113(9):1171-9. Epub 2006 Feb 27.
PMID 16505173
 
Desmoglein 2 is a substrate of kallikrein 7 in pancreatic cancer.
Ramani VC, Hennings L, Haun RS.
BMC Cancer. 2008 Dec 17;8:373.
PMID 19091121
 
Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins.
Schafer S, Koch PJ, Franke WW.
Exp Cell Res. 1994 Apr;211(2):391-9.
PMID 8143788
 
Desmosomal adhesion inhibits invasive behavior.
Tselepis C, Chidgey M, North A, Garrod D.
Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8064-9.
PMID 9653140
 
Decreased expression of the adhesion molecule desmoglein-2 is associated with diffuse-type gastric carcinoma.
Yashiro M, Nishioka N, Hirakawa K.
Eur J Cancer. 2006 Sep;42(14):2397-403. Epub 2006 Aug 4.
PMID 16890424
 

Citation

This paper should be referenced as such :
Yashiro, M
DSG2 (desmoglein 2)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(9):815-816.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/DSG2ID40367ch18q12.html


External links

Nomenclature
HGNC (Hugo)DSG2   3049
LRG (Locus Reference Genomic)LRG_397
Cards
AtlasDSG2ID40367ch18q12
Entrez_Gene (NCBI)DSG2  1829  desmoglein 2
AliasesCDHF5; HDGC
GeneCards (Weizmann)DSG2
Ensembl hg19 (Hinxton)ENSG00000046604 [Gene_View]  chr18:29077967-29128970 [Contig_View]  DSG2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000046604 [Gene_View]  chr18:29077967-29128970 [Contig_View]  DSG2 [Vega]
ICGC DataPortalENSG00000046604
TCGA cBioPortalDSG2
AceView (NCBI)DSG2
Genatlas (Paris)DSG2
WikiGenes1829
SOURCE (Princeton)DSG2
Genetics Home Reference (NIH)DSG2
Genomic and cartography
GoldenPath hg19 (UCSC)DSG2  -     chr18:29077967-29128970 +  18q12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DSG2  -     18q12.1   [Description]    (hg38-Dec_2013)
EnsemblDSG2 - 18q12.1 [CytoView hg19]  DSG2 - 18q12.1 [CytoView hg38]
Mapping of homologs : NCBIDSG2 [Mapview hg19]  DSG2 [Mapview hg38]
OMIM125671   610193   612877   
Gene and transcription
Genbank (Entrez)AK308408 BC014581 BC014584 BC017410 BC022413
RefSeq transcript (Entrez)NM_001943
RefSeq genomic (Entrez)NC_000018 NC_018929 NG_007072 NT_010966 NW_004929410
Consensus coding sequences : CCDS (NCBI)DSG2
Cluster EST : UnigeneHs.412597 [ NCBI ]
CGAP (NCI)Hs.412597
Alternative Splicing GalleryENSG00000046604
Gene ExpressionDSG2 [ NCBI-GEO ]   DSG2 [ EBI - ARRAY_EXPRESS ]   DSG2 [ SEEK ]   DSG2 [ MEM ]
Gene Expression Viewer (FireBrowse)DSG2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1829
GTEX Portal (Tissue expression)DSG2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14126   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14126  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14126
Splice isoforms : SwissVarQ14126
PhosPhoSitePlusQ14126
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Catenin_binding_dom    Desmoglein    Desmosomal_cadherin   
Domain families : Pfam (Sanger)Cadherin (PF00028)   
Domain families : Pfam (NCBI)pfam00028   
Domain families : Smart (EMBL)CA (SM00112)  
Conserved Domain (NCBI)DSG2
DMDM Disease mutations1829
Blocks (Seattle)DSG2
PDB (SRS)2YQG   
PDB (PDBSum)2YQG   
PDB (IMB)2YQG   
PDB (RSDB)2YQG   
Structural Biology KnowledgeBase2YQG   
SCOP (Structural Classification of Proteins)2YQG   
CATH (Classification of proteins structures)2YQG   
SuperfamilyQ14126
Human Protein AtlasENSG00000046604
Peptide AtlasQ14126
HPRD00516
IPIIPI00028931   IPI00982545   
Protein Interaction databases
DIP (DOE-UCLA)Q14126
IntAct (EBI)Q14126
FunCoupENSG00000046604
BioGRIDDSG2
STRING (EMBL)DSG2
ZODIACDSG2
Ontologies - Pathways
QuickGOQ14126
Ontology : AmiGOdesmosome organization  Purkinje myocyte development  calcium ion binding  plasma membrane  plasma membrane  cell-cell junction  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cell surface  intercalated disc  integral component of membrane  apical plasma membrane  lateral plasma membrane  desmosome  response to progesterone  cell adhesion molecule binding  maternal process involved in female pregnancy  extracellular exosome  bundle of His cell-Purkinje myocyte adhesion involved in cell communication  cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication  regulation of heart rate by cardiac conduction  regulation of ventricular cardiac muscle cell action potential  
Ontology : EGO-EBIdesmosome organization  Purkinje myocyte development  calcium ion binding  plasma membrane  plasma membrane  cell-cell junction  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cell surface  intercalated disc  integral component of membrane  apical plasma membrane  lateral plasma membrane  desmosome  response to progesterone  cell adhesion molecule binding  maternal process involved in female pregnancy  extracellular exosome  bundle of His cell-Purkinje myocyte adhesion involved in cell communication  cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication  regulation of heart rate by cardiac conduction  regulation of ventricular cardiac muscle cell action potential  
Pathways : KEGGArrhythmogenic right ventricular cardiomyopathy (ARVC)   
REACTOMEQ14126 [protein]
REACTOME Pathways351906 [pathway]   6805567 [pathway]   6809371 [pathway]   
NDEx NetworkDSG2
Atlas of Cancer Signalling NetworkDSG2
Wikipedia pathwaysDSG2
Orthology - Evolution
OrthoDB1829
GeneTree (enSembl)ENSG00000046604
Phylogenetic Trees/Animal Genes : TreeFamDSG2
HOVERGENQ14126
HOGENOMQ14126
Homologs : HomoloGeneDSG2
Homology/Alignments : Family Browser (UCSC)DSG2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDSG2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSG2
dbVarDSG2
ClinVarDSG2
1000_GenomesDSG2 
Exome Variant ServerDSG2
ExAC (Exome Aggregation Consortium)DSG2 (select the gene name)
Genetic variants : HAPMAP1829
Genomic Variants (DGV)DSG2 [DGVbeta]
DECIPHER (Syndromes)18:29077967-29128970  ENSG00000046604
CONAN: Copy Number AnalysisDSG2 
Mutations
ICGC Data PortalDSG2 
TCGA Data PortalDSG2 
Broad Tumor PortalDSG2
OASIS PortalDSG2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDSG2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDSG2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)ARVD/C Genetic Variants Database
BioMutasearch DSG2
DgiDB (Drug Gene Interaction Database)DSG2
DoCM (Curated mutations)DSG2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DSG2 (select a term)
intoGenDSG2
NCG5 (London)DSG2
Cancer3DDSG2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125671    610193    612877   
Orphanet635    20888    20887    20886   
MedgenDSG2
Genetic Testing Registry DSG2
NextProtQ14126 [Medical]
TSGene1829
GENETestsDSG2
Huge Navigator DSG2 [HugePedia]
snp3D : Map Gene to Disease1829
BioCentury BCIQDSG2
ClinGenDSG2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1829
Chemical/Pharm GKB GenePA27502
Clinical trialDSG2
Miscellaneous
canSAR (ICR)DSG2 (select the gene name)
Probes
Litterature
PubMed106 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDSG2
EVEXDSG2
GoPubMedDSG2
iHOPDSG2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:39:35 CET 2017

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