Property Summary

NCBI Gene PubMed Count 92
PubMed Score 104.28
PubTator Score 113.35

Knowledge Summary


No data available


  Disease (7)

Disease Target Count Z-score Confidence
Cardiomyopathy 110 0.0 4.0
Disease Target Count Z-score Confidence
Ritter's disease 10 3.691 1.8
Disease Target Count
Cardiomyopathy, dilated 1BB 1


  Differential Expression (27)

Disease log2 FC p
urothelial carcinoma -1.300 3.9e-02
malignant mesothelioma -1.700 2.6e-07
esophageal adenocarcinoma 1.900 4.2e-02
psoriasis -1.900 7.1e-04
osteosarcoma -2.518 2.8e-02
posterior fossa group A ependymoma 4.100 1.3e-20
glioblastoma 1.600 1.2e-02
medulloblastoma 2.000 1.9e-04
cystic fibrosis 3.843 2.0e-07
atypical teratoid / rhabdoid tumor 4.400 2.0e-06
medulloblastoma, large-cell 3.900 7.4e-05
primitive neuroectodermal tumor 2.200 2.0e-02
non-small cell lung cancer 2.805 1.1e-24
intraductal papillary-mucinous carcinoma... 1.400 3.8e-02
intraductal papillary-mucinous neoplasm ... 1.800 4.3e-02
lung cancer 3.100 2.2e-05
pancreatic cancer 1.300 8.6e-05
Breast cancer 2.700 3.1e-02
interstitial cystitis -3.500 9.3e-05
adult high grade glioma 1.700 2.8e-04
nasopharyngeal carcinoma 1.600 1.1e-04
lung adenocarcinoma 1.341 4.1e-04
pulmonary arterial hypertension -1.700 4.5e-02
mucosa-associated lymphoid tissue lympho... -1.040 4.7e-02
acute myeloid leukemia -2.800 2.7e-02
ovarian cancer 1.400 1.8e-02
facioscapulohumeral dystrophy 2.400 2.1e-03

Gene RIF (59)

25855637 This structure reveals that the ectodomain of Dsg2 is flexible even in the calcium-bound state and, on average, is shorter than the type 1 cadherin crystal structures.
25785582 a novel pathway of CSTA regulation involving Dsg2
25631074 Cellular biotinylated desmoglein 2 (DSG2) protein is incorporated into HIV-1 Gag virus-like particles
25468811 DSG2 and DSG3 might be potential diagnostic markers for squamous cell carcinoma of the lung.
25398255 Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis.
25237006 In endometrial luminal epithelium, cadherin 6, desmoglein 2 and plexin b2 were surprisingly found in the apical as well as the lateral membrane domain; their knock-down compromised epithelial integrity.
25087486 Six variants of uncertain clinical significance in the PKP2, JUP, and DSG2 genes showed a deleterious effect on mRNA splicing, indicating these are ARVD/C-related pathogenic splice site mutations.
24896103 a low DSG2 expression phenotype is a useful prognostic biomarker of tumor aggressiveness and may serve as an aid in identifying patients with clinically significant prostate cancer.
24567334 Gal3 has a role in stabilizing desmoglein-2, a desmosomal cadherin, and intercellular adhesion in intestinal epithelial cells
24558503 Desmoglein 2 expression attenuates migration of melanoma cells, mediated by downregulation of secretogranin II.
24166502 Data demonstrate that partner desmosomal cadherins Dsg2 and Dsc2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR signaling.
24086444 Reduced cardiac desmoglein-2 and desmocollin-2 levels appear to be specifically associated with Arrhythmogenic right ventricular Dysplasia/cardiomyopathy, independent of underlying mutations.
23946456 Authors found a number of mutations within or near the EF loop of the Ad3 fiber knob that resulted in affinities to DSG2 that were several orders of magnitude higher than those to the wild-type Ad3 knob.
23874518 Desmoglein-2 co-localizes with integrin-beta8 in N-MVECs.
23381804 findings were consistent with the results obtained by immunohistochemistry of endomyocardial biopsies and epidermal tissue of mutation carriers, which indicated a normal cellular distribution of DSG2
23326495 Specific desmosomal cadherins contribute differently to keratinocyte cohesion and that Dsg2 compared to Dsg3 is less important in this context.
23326490 CD133 interacts with plakoglobin and knockdown of CD133 by RNA interference (RNAi) results in the downregulation of desmoglein-2.
23261431 Snail regulates levels of E-cadherin and desmoglein 2 in oral squamous cell carcinoma cells both transcriptionally and post-translationally.
23128240 The Dsg unique region(DUR) of Dsg2 stabilized Dsg2 at the cell surface by inhibiting its internalization and promoted strong intercellular adhesion.
23071725 an impaired prodomain cleavage and an influence on the DSG2-properties could be demonstrated for the R46Q-variant leading to the classification of the variant as a potential gain-of-function mutant in arrhythmogenic right ventricular cardiomyopathy
22783993 Dsg-2 with a mutation at the predicted cleavage site is resistant to cleavage by matriptase. Thus Dsg-2 seems to be a functionally relevant physiological substrate of matriptase.
22521077 Gastroesophageal reflux disease was specifically associated with elevated transcript levels of desmoglein 2 and plakoglobin
22276604 Induced gene expression levels of plakoglobin, desmoglein-1 and desmoglein-2 correlated significantly with dilatation of intercellular spaces and basal cell hyperplasia in esophageal mucosa of patients with gastro-oesophageal reflux disease.
22189787 Desmoglein 2, expressed earliest among the four isoforms in development, was found to be mutated in arrythmogenic right ventricular cardiomyopathy and is a receptor for a subset of adenoviruses that cause respiratory and urinary tract infections.
22184201 The Dsg2 exhibit microtubule-dependent transport in epithelial cells but use distinct motors to traffic to the plasma membrane.
21715983 Dsg2 extracellular and intracellular domains are cleaved by proteolytic enzymes, and multiple cleavage fragments of Dsg2 are generated in colonic epithelial cells.
21397041 We detected a novel mutation: DSG2 3059_3062delAGAG and it may induce disintegrationofthe desmosomal structure
20923451 Study demonstrated a molecular switching in gene expression within the desmoglein subfamily between DSG3 and DSG2 during oral cancer progression.
20864495 Studies identified two mutations in DSG2, four in DSC2, two in DSP, four in JUP and seven in PKP2.
20708101 Co-segregation of the G812S mutation with disease expression was established in a large Caucasian family.No differences in targeting or stability of the mutant proteins, suggesting that they act via a dominant negative mechanism
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20525856 Observational study of gene-disease association. (HuGE Navigator)
20459474 Observational study of gene-disease association. (HuGE Navigator)
20400443 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20224006 Dsg2-mediated adhesion affects tight junction integrity and is required to maintain intestinal epithelial barrier properties
20215590 Observational study of genetic testing. (HuGE Navigator)
20031617 Observational study of gene-disease association. (HuGE Navigator)
20031616 Mutations in DSG2 and DSC2 are less prevalent than PKP2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomypath patients.
20031616 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19863551 Observational study of genetic testing. (HuGE Navigator)
19458482 While Dsg2 expression was consistently strong in BCC, it varied in SCC with a minor correlation between a decrease of Dsg2 expression and tumor differentiation
19091121 levels of Dsg1 & Dsg2 are reduced in pancreatic tumors; expression of kallikrein 7 in BxPC-3 cells resulted in increase in shedding of soluble Dsg2
18987342 Results show that epidermal growth factor receptor inhibition stabilizes desmoglein 2 at intercellular junctions by interfering with its accumulation in an internalized cytoplasmic pool.
18975006 Desmoglein 2 has been demonstrated in a sizable subset of nevi and primary melanomas.
18707543 Monoclonal antibodies against the proregion of the desmosomal cadherin, human desmoglein-2.
18678517 DSG2-V55M polymorphism is identified as a novel risk variant for dilated cardiomyopathy.
18678517 Observational study of gene-disease association. (HuGE Navigator)
18632414 Mutations in the desmosome genes were identified in four of the five patients (three with a DSG2 mutation and one with a DSP mutation). Five gene mutations were noted in four patients and all mutations were novel (one patient had a DSG2 double mutation).
18596851 Observational study of gene-disease association. (HuGE Navigator)
17804817 Dsg2 regulates intestinal epithelial cell apoptosis driven by cysteine proteases during physiological differentiation and inflammation
17559062 Dsg2 was targeted by caspases in cell lines undergoing staurosporine-induced apoptosis. The proteolytic processing of full-length Dsg2 released a 70-kDa fragment into the cytosol.
17495963 desmoglein 2 is a novel solitary surface glycoprotein in malignant melanoma cells
17227756 long term treatment with epidermal growth factor (EGF) leads to a marked increase in the levels of ADAM17, which also increases the shedding of several substrates of ADAM17, including the desmosomal cadherin Dsg-2
17105751 Mutations in DSG2 display a high degree of penetrance. Disease expression was of variable severity with left ventricular involvement a prominent feature.
16820949 Data demonstrate that UV-induced desmoglein-2 down-regulation is mediated via reactive oxygen species which are generated through EGF receptor activation and Rac2/NADPH oxidase activation.
16773573 mutations in DSG2 contribute to the development ofarrhythmogenic right ventricular dysplasia/cardiomyopathy
16505173 Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in subjects with ARVC.
12787134 Desmoglein 2 was highly expressed by the least differentiated cells of the cutaneous epithelium, including the hair follicle bulge of the fetus and adult, bulb matrix cells, and basal layer of the outer root sheath.

AA Sequence


Text Mined References (103)

PMID Year Title
26469831 2015 Desmogleins as prognostic biomarkers in resected pancreatic ductal adenocarcinoma.
26296472 2015 Mutations of desmoglein-2 in sudden death from arrhythmogenic right ventricular cardiomyopathy and sudden unexplained death.
26292319 2015 Intracellular Signaling and Desmoglein 2 Shedding Triggered by Human Adenoviruses Ad3, Ad14, and Ad14P1.
26224314 2015 Inflammation-induced desmoglein-2 ectodomain shedding compromises the mucosal barrier.
26115074 2015 Loss of Desmoglein 2 Contributes to the Pathogenesis of Crohn's Disease.
26085008 2015 Desmoglein 2-Dependent Arrhythmogenic Cardiomyopathy Is Caused by a Loss of Adhesive Function.
25855637 2015 Cadherin flexibility provides a key difference between desmosomes and adherens junctions.
25785582 2015 Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion.
25660657 2015 Arrhythmogenic right ventricular cardiomyopathy with left ventricular involvement: a novel splice site mutation in the DSG2 gene.
25468811 2015 Expression of desmogleins 1-3 and their clinical impacts on human lung cancer.
25398255 2015 Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy.
25237006 2015 Endometrial apical glycoproteomic analysis reveals roles for cadherin 6, desmoglein-2 and plexin b2 in epithelial integrity.
25087486 2014 Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
24896103 2014 Characterization of desmoglein expression in the normal prostatic gland. Desmoglein 2 is an independent prognostic factor for aggressive prostate cancer.
24567334 2014 Galectin-3 regulates desmoglein-2 and intestinal epithelial intercellular adhesion.
24558503 2014 Desmoglein 2 depletion leads to increased migration and upregulation of the chemoattractant secretoneurin in melanoma cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24166502 2014 Loss of the desmosomal cadherin desmoglein-2 suppresses colon cancer cell proliferation through EGFR signaling.
24086444 2013 Desmosomal cadherins are decreased in explanted arrhythmogenic right ventricular dysplasia/cardiomyopathy patient hearts.
23946456 2013 Structural and functional studies on the interaction of adenovirus fiber knobs and desmoglein 2.
23874518 2013 Desmoglein-2-integrin Beta-8 interaction regulates actin assembly in endothelial cells: deregulation in systemic sclerosis.
23381804 2013 Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
23326495 2013 Desmoglein 2 is less important than desmoglein 3 for keratinocyte cohesion.
23326490 2013 The cancer stem cell marker CD133 interacts with plakoglobin and controls desmoglein-2 protein levels.
23261431 2013 The transcription factor Snail enhanced the degradation of E-cadherin and desmoglein 2 in oral squamous cell carcinoma cells.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23128240 2012 The C-terminal unique region of desmoglein 2 inhibits its internalization via tail-tail interactions.
23071725 2012 In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations.
22783993 2012 From prediction to experimental validation: desmoglein 2 is a functionally relevant substrate of matriptase in epithelial cells and their reciprocal relationship is important for cell adhesion.
22781308 2012 Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.
22521077 2012 Assessment of desmosomal components (desmoglein 1-3, plakoglobin) in cardia mucosa in relation to gastroesophageal reflux disease and Helicobacter pylori infection.
22276604 2012 Gastro-oesophageal reflux disease is associated with up-regulation of desmosomal components in oesophageal mucosa.
22189787 2012 Desmoglein as a target in skin disease and beyond.
22184201 2011 Desmosomal cadherins utilize distinct kinesins for assembly into desmosomes.
21715983 Characterization of full-length and proteolytic cleavage fragments of desmoglein-2 in native human colon and colonic epithelial cell lines.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21397041 2011 Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.
21269460 2011 Initial characterization of the human central proteome.
21062920 2011 Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
20923451 2011 A molecular study of desmosomes identifies a desmoglein isoform switch in head and neck squamous cell carcinoma.
20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
20859650 2011 E-cadherin and plakoglobin recruit plakophilin3 to the cell border to initiate desmosome assembly.
20708101 2010 Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20525856 2010 Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin.
20459474 2011 Can we predict top-level sports performance in power vs endurance events? A genetic approach.
20400443 2010 Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
20224006 2010 Desmoglein 2-mediated adhesion is required for intestinal epithelial barrier integrity.
20215590 2010 Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
20031616 2009 Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19581412 2009 Quantitative proteomics identifies a Dab2/integrin module regulating cell migration.
19458482 Increased expression of Dsg2 in malignant skin carcinomas: A tissue-microarray based study.
19349973 2009 Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19139490 2009 A strategy for precise and large scale identification of core fucosylated glycoproteins.
19091121 2008 Desmoglein 2 is a substrate of kallikrein 7 in pancreatic cancer.
18987342 2009 EGFR and ADAMs cooperate to regulate shedding and endocytic trafficking of the desmosomal cadherin desmoglein 2.
18975006 2008 Subtypes of melanocytes and melanoma cells distinguished by their intercellular contacts: heterotypic adherens junctions, adhesive associations, and dispersed desmoglein 2 glycoproteins.
18707543 2008 Generation and characterization of monoclonal antibodies against the proregion of human desmoglein-2.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18678517 A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18632414 2008 Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations.
18596851 2008 Arrhythmogenic right ventricular dysplasia.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17804817 2007 Desmoglein-2: a novel regulator of apoptosis in the intestinal epithelium.
17559062 2008 The most widespread desmosomal cadherin, desmoglein 2, is a novel target of caspase 3-mediated apoptotic machinery.
17495963 2007 Homo- and heterotypic cell contacts in malignant melanoma cells and desmoglein 2 as a novel solitary surface glycoprotein.
17227756 2007 Post-transcriptional up-regulation of ADAM17 upon epidermal growth factor receptor activation and in breast tumors.
17105751 2007 Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16820949 2006 UV radiation down-regulates Dsg-2 via Rac/NADPH oxidase-mediated generation of ROS in human lens epithelial cells.
16773573 2006 DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
16505173 2006 Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16212419 Phosphoproteome analysis of HeLa cells using stable isotope labeling with amino acids in cell culture (SILAC).
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
12787134 2003 Desmoglein isotype expression in the hair follicle and its cysts correlates with type of keratinization and degree of differentiation.
12754519 2003 Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
12707304 2003 Defining desmosomal plakophilin-3 interactions.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11853539 2002 Molecular interactions between desmosomal cadherins.
11790773 2002 Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling.
11710948 2001 Isoform-specific differences in the size of desmosomal cadherin/catenin complexes.
10769205 2000 The amino- and carboxyl-terminal tails of (beta)-catenin reduce its affinity for desmoglein 2.
10482015 Diversity of desmosomal proteins in regenerating epidermis: immunohistochemical study using a human skin organ culture model.
9579833 1998 Immunohistochemical staining for desmogleins 1 and 2 in keratinocytic neoplasms with squamous phenotype: actinic keratosis, keratoacanthoma and squamous cell carcinoma of the skin.
9511724 1998 The expression of desmoglein isoforms in cultured human keratinocytes is regulated by calcium, serum, and protein kinase C.
9214392 1997 Direct Ca2+-dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion.
8749329 1995 The fourth armadillo repeat of plakoglobin (gamma-catenin) is required for its high affinity binding to the cytoplasmic domains of E-cadherin and desmosomal cadherin Dsg2, and the tumor suppressor APC protein.
8641550 1996 Immunological identification and characterization of the desmosomal cadherin Dsg2 in coupled and uncoupled epithelial cells and in human tissues.
8143788 1994 Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins.
7790000 1995 Tandem arrangement of the closely linked desmoglein genes on human chromosome 18.
1935985 1991 Complete amino acid sequence of the epidermal desmoglein precursor polypeptide and identification of a second type of desmoglein gene.
1612610 1992 The human gene (DSG2) coding for HDGC, a second member of the desmoglein subfamily of the desmosomal cadherins, is, like DSG1 coding for desmoglein DGI, assigned to chromosome 18.