Recombinant Human Desmoglein-2 (DSG2), partial (Active)

1. A homozygous mutation of DSG2 p.F531C was identified as the pathogenic mutation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) involving both ventricles, as a result of widened and impaired intercalated discs, interrupted myocardial fibers, and abnormally hyperplastic interstitial fibers, collagen fibers, and adipocytes. PMID: 28578331
2. DSG2 as a key regulator of vasculogenic mimicry (VM) activity in human melanoma and suggest this molecule might be therapeutically targeted to reduce tumor blood supply and metastatic spread. PMID: 27340778
3. Data suggest that Dsg2 stimulates cell growth and migration by positively regulating EGFR level and signaling through a c-Src and Cav1-dependent mechanism using lipid rafts as signal modulatory platforms. PMID: 26918609
4. identified DSG2 expression in distinct progenitor cell subpopulations and show that, independent from its classical function as a component of desmosomes, this cadherin also plays a critical role in the vasculature PMID: 27338829
5. Expression of the desmosomal protein Desmoglein-2 was reduced in pediatric dilated cardiomyopathy pediatric patients. PMID: 28764973
6. This study defines a mechanism by which Dsg2 expression in cancer cells can modulate the tumor microenvironment, a step critical for tumor progression. PMID: 28438789
7. Silencing of Dsg2 but not Dsc2 resulted in loss of cell cohesion and enhanced migration, and invasion of pancreatic adenocarcinoma cells. PMID: 28277619
8. The homozygous desmoglein 2 variant c.1003A;G co-segregated with Arrhythmogenic right ventricular cardiomyopathy, indicating autosomal recessive inheritance and complete penetrance. PMID: 28818065
9. these data suggest that palmitoylation of Dsg2 regulates protein transport to the plasma membrane. Modulation of the palmitoylation status of desmosomal cadherins can affect desmosome dynamics. PMID: 27703000
10. Both Dsg2 mRNA and protein were highly expressed in non-small cell lung cancer (NSCLC) tissues and associated with NSCLC size, but not with overall survival of patients. PMID: 27629878
11. Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis. PMID: 25398255
12. DSG2 and DSG3 might be potential diagnostic markers for squamous cell carcinoma of the lung. PMID: 25468811
13. 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. PMID: 25237006
14. 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. PMID: 24896103
15. 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. PMID: 25087486
16. 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. PMID: 25855637
17. Desmoglein 2 expression attenuates migration of melanoma cells, mediated by downregulation of secretogranin II. PMID: 24558503
18. Gal3 has a role in stabilizing desmoglein-2, a desmosomal cadherin, and intercellular adhesion in intestinal epithelial cells PMID: 24567334
19. Desmoglein-2 co-localizes with integrin-beta8 in N-MVECs. PMID: 23874518
20. 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. PMID: 23946456
21. 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 PMID: 23381804
22. Snail regulates levels of E-cadherin and desmoglein 2 in oral squamous cell carcinoma cells both transcriptionally and post-translationally. PMID: 23261431
23. CD133 interacts with plakoglobin and knockdown of CD133 by RNA interference (RNAi) results in the downregulation of desmoglein-2. PMID: 23326490
24. Specific desmosomal cadherins contribute differently to keratinocyte cohesion and that Dsg2 compared to Dsg3 is less important in this context. PMID: 23326495
25. 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 PMID: 23071725
26. The Dsg unique region(DUR) of Dsg2 stabilized Dsg2 at the cell surface by inhibiting its internalization and promoted strong intercellular adhesion. PMID: 23128240
27. Gastroesophageal reflux disease was specifically associated with elevated transcript levels of desmoglein 2 and plakoglobin PMID: 22521077
28. 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. PMID: 22783993
29. 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. PMID: 22189787
30. The Dsg2 exhibit microtubule-dependent transport in epithelial cells but use distinct motors to traffic to the plasma membrane. PMID: 22184201
31. We detected a novel mutation: DSG2 3059_3062delAGAG and it may induce disintegrationofthe desmosomal structure PMID: 21397041
32. Dsg2 extracellular and intracellular domains are cleaved by proteolytic enzymes, and multiple cleavage fragments of Dsg2 are generated in colonic epithelial cells. PMID: 21715983
33. Study demonstrated a molecular switching in gene expression within the desmoglein subfamily between DSG3 and DSG2 during oral cancer progression. PMID: 20923451
34. 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 PMID: 20708101
35. Dsg2-mediated adhesion affects tight junction integrity and is required to maintain intestinal epithelial barrier properties PMID: 20224006
36. 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. PMID: 12787134
37. Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in subjects with ARVC. PMID: 16505173
38. mutations in DSG2 contribute to the development ofarrhythmogenic right ventricular dysplasia/cardiomyopathy PMID: 16773573
39. 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. PMID: 16820949
40. Mutations in DSG2 display a high degree of penetrance. Disease expression was of variable severity with left ventricular involvement a prominent feature. PMID: 17105751
41. 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 PMID: 17227756
42. desmoglein 2 is a novel solitary surface glycoprotein in malignant melanoma cells PMID: 17495963
43. 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. PMID: 17559062
44. Dsg2 regulates intestinal epithelial cell apoptosis driven by cysteine proteases during physiological differentiation and inflammation PMID: 17804817
45. DSG2-V55M polymorphism is identified as a novel risk variant for dilated cardiomyopathy. PMID: 18678517
46. Monoclonal antibodies against the proregion of the desmosomal cadherin, human desmoglein-2. PMID: 18707543
47. Desmoglein 2 has been demonstrated in a sizable subset of nevi and primary melanomas. PMID: 18975006
48. Results show that epidermal growth factor receptor inhibition stabilizes desmoglein 2 at intercellular junctions by interfering with its accumulation in an internalized cytoplasmic pool. PMID: 18987342
49. 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 PMID: 19091121
50. 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 PMID: 19458482

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HGNC: 3049

OMIM: 125671

KEGG: hsa:1829

STRING: 9606.ENSP00000261590

UniGene: Hs.412597