Recombinant Human Desmocollin-2 (DSC2), partial

1. Desmocollin-2 genetic variant contributes to Arrhythmogenic Right Ventricular Cardiomyopathy PMID: 27531918
2. PKP3 overexpression increases the stability of other desmosomal proteins independently of the increase in DSC2 levels and regulates desmosome formation and stability by a multimodal mechanism affecting transcription, protein stability and cell border localization of desmosomal proteins. PMID: 29146182
3. The cardiac specific DSC2 transgenic mice develop severe biventricular cardiomyopathy. PMID: 28339476
4. A novel missense mutation (c.1090 G > A/p.V364 M) of DSC2 was identified in a Chinese family with arrhythmogenic right ventricular cardiomyopathy. PMID: 28256248
5. Data suggest juxtamembrane regions/domains of desmocollin-2 (DSC2), plakophilin 2 (PKP2), and plakophilin 3 (PKP3) are involved in desmosome formation in epithelial cells; DSC2 participates in desmosome formation in absence of desmoglein 2 (DSG2). PMID: 25972099
6. Oxidized low-density lipoprotein attenuated desmoglein 1 and desmocollin 2 expression in human umbilical vein endothelial cells. PMID: 26498522
7. DSC2 promoter methylation is associated with Breast Cancer. PMID: 25809865
8. Homozygous founder mutation in DSC2 gene identified among Italian arrhythmogenic cardiomyopathy probands, providing evidence of the occurrence of recessive DSC2 mutations presenting with biventricular forms of the disease. PMID: 26310507
9. Desmocollin-2 mutations are described for dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, as well. Desmocollin-2 mutation was described in a case of arrhythmogenic biventricular cardiomyopathy PMID: 25576714
10. a novel Nrf2-miR-29-Dsc2 axis controls desmosome function and cutaneous homeostasis PMID: 25283360
11. ECG reliably identifies homozygous p.Gln554X desmocollin-2 carriers and may be useful as an initial step in the screening of high-risk Hutterites. PMID: 25497880
12. DSC2 may be involved in the regulation of the invasive behavior of cells by a mechanism that controls cellcell attachment and cytoskeleton rearrangement PMID: 25119898
13. Data demonstrate that partner desmosomal cadherins Dsg2 and Dsc2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR signaling. PMID: 24166502
14. Case of arrhythmogenic right ventricular cardiomyopathy with a previously unreported desmocollin-2 mutation (c.712_714delGAT). This genetic variant displays autosomal recessive inheritance without the cutaneous manifestations. PMID: 24793512
15. Reduced cardiac desmoglein-2 and desmocollin-2 levels appear to be specifically associated with Arrhythmogenic right ventricular Dysplasia/cardiomyopathy, independent of underlying mutations. PMID: 24086444
16. A homozygous truncation mutation, c.1660C>T (p.Q554X) in desmocollin-2 (DSC2) was idnetified in affected individuals and determined a carrier frequency of this mutation of 9.4% among 1535 Schmiedeleut Hutterites. PMID: 23863954
17. DSC2 is a useful immunohistochemical marker for separation of Urothelial carcinoma with squamous differentiation from pure Urothelial carcinoma PMID: 22014052
18. The Dsc2 exhibit microtubule-dependent transport in epithelial cells but use distinct motors to traffic to the plasma membrane. PMID: 22184201
19. At the molecular level, altered binding properties of the desmocollin-2a mutant may contribute to the changes in connexin43 PMID: 21220045
20. Report mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. PMID: 21062920
21. Studies identified two mutations in DSG2, four in DSC2, two in DSP, four in JUP and seven in PKP2. PMID: 20864495
22. Desmocollin 2 is involved in the transformation and development of esophageal tumors and that desmocollin 2 expression level and intracellular localization may serve as a predictor for patient outcomes. PMID: 20621329
23. DSC2 gene mutations are not frequently involved in arrhythmogenic right ventricular cardiomyopathy/dysplasia. PMID: 20197793
24. Mutations in DSG2 and DSC2 are less prevalent than PKP2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomypath patients. PMID: 20031616
25. Loss of Dsc2 protein is associated with colorectal cancer PMID: 17088906
26. DSC2 mutations are a cause of arrhythmogenic right ventricular cardiomyopathy in humans, physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function. PMID: 17186466
27. The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations PMID: 17963498
28. 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). PMID: 18632414
29. Repression of the desmocollin 2 gene expression in human colon cancer cells is relieved by the homeodomain transcription factors Cdx1 and Cdx2. PMID: 18819935
30. mutation associated with autosomal recessive arrhythmogenic right ventricular cardiomyopathy PMID: 18957847

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HGNC: 3036

OMIM: 125645

KEGG: hsa:1824

STRING: 9606.ENSP00000280904

UniGene: Hs.95612