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  4. Recombinant Human Desmocollin-2 (DSC2 CDHF2 DSC3)

Recombinant Human Desmocollin-2 (DSC2 CDHF2 DSC3)

  • 中文名稱：
  • 貨號：
    CSB-YP246717HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
  • 貨號：
    CSB-EP246717HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
  • 貨號：
    CSB-EP246717HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
  • 貨號：
    CSB-BP246717HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
  • 貨號：
    CSB-MP246717HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    Desmocollin-2; Cadherin family member 2; Desmocollin-3; Desmosomal glycoprotein II; Desmosomal glycoprotein III; DSC2 CDHF2 DSC3
  • 種屬：
    Homo sapiens (Human)
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產品評價

靶點詳情

  • 功能：
    Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.
  • 基因功能參考文獻：
    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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  • 相關疾病：
    Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)
  • 亞細胞定位：
    Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.
  • 組織特異性：
    Expressed in epithelia, myocardium and lymph nodes.
  • 數據庫鏈接：

    HGNC: 3036

    OMIM: 125645

    KEGG: hsa:1824

    STRING: 9606.ENSP00000280904

    UniGene: Hs.95612



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