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Gene Review

DSC2  -  desmocollin 2

Homo sapiens

Synonyms: ARVD11, CDHF2, Cadherin family member 2, DG2, DGII/III, ...
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Disease relevance of DSC2

  • Immunofluorescence of COS7 cells transfected with single human Dscs showed that IgA antibodies of all six SPD-type IgA pemphigus cases reacted with the surface of cells expressing Dsc1, but not with cells expressing Dsc2 or Dsc3 [1].
  • Loss of Dsc2 (8/19) and de novo expression of Dsc1 (11/19) and Dsc3 (6/19) was also found in colorectal adenocarcinomas on a background of colitis [2].
  • Two examples include the antimetastatic, tumor suppressor genes, desmocollin 3 (DSC3) and MASPIN, which are frequently silenced in this manner in human breast cancer [3].

High impact information on DSC2

  • In contrast, daily intravenous injections of DG2 IgG given to mice had no effect on DLD-2 tumor growth but reduced growth of C6 tumors by approximately 30%--a statistically significant difference [4].
  • Tumor cell proliferation was monitored after treatment with rHu-bFGF or the DG2 or DE6 IgG monoclonal antibody to rHu-bFGF in culture and in vivo [4].
  • These data identify DSC2 mutations as a cause of ARVC in humans and demonstrate that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function [5].
  • Morpholino knockdown in zebrafish embryos revealed a requirement for dsc2 in the establishment of the normal myocardial structure and function, with reduced desmosomal plaque area, loss of the desmosome extracellular electron-dense midlines, and associated myocardial contractility defects [5].
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2 [6].

Biological context of DSC2

  • In contrast to MAb 1D11.16, which caused a dose-dependent decrease in RA synovial cell growth, MAb DG2 (up to 100 micrograms/ml) had no effect on cell growth [7].
  • A 4 kb fragment of the desmocollin 3 promoter directs reporter gene expression to parakeratotic epidermis and primary hair follicles [8].

Anatomical context of DSC2


Associations of DSC2 with chemical compounds

  • METHODS: To isolate the effect of caffeine from that of other components of guarana, we adopted two different doses of whole extract (G1-0.130 g/kg; G2-0.325 g/kg) or decaffeinated extract (DG1, DG2) [11].
  • In the absence of exogenous cytokines, the sponge-induced angiogenesis was profoundly suppressed by dexamethasone (5 micrograms/day), but not modified by IL-1ra, IL-8-AS, TNF-AB, and DG2 alone [12].

Analytical, diagnostic and therapeutic context of DSC2

  • We elucidated the exon-intron structures of the DSC1 and DSC3 genes using PCR amplification of genomic DNA and direct sequencing of BAC clones [13].
  • We have found switching between desmocollins in sporadic colorectal adenocarcinoma with a reduction in Dsc2 protein (in 8/16 samples analysed by immunohistochemistry) being accompanied by de novo expression of Dsc1 (16/16) and Dsc3 (7/16) [2].
  • Gamma-camera imaging and distribution studies revealed that CEA-containing tumors selectively accumulate DG2 but Rec R does not [14].
  • Monoclonal antibody D11-DG2 (DG2) against carcinoembryonic antigen (CEA) was examined for suitability for radioimmunodetection of human tumors grown in nude mice [14].


  1. Human desmocollin 1 (Dsc1) is an autoantigen for the subcorneal pustular dermatosis type of IgA pemphigus. Hashimoto, T., Kiyokawa, C., Mori, O., Miyasato, M., Chidgey, M.A., Garrod, D.R., Kobayashi, Y., Komori, K., Ishii, K., Amagai, M., Nishikawa, T. J. Invest. Dermatol. (1997) [Pubmed]
  2. Desmocollin switching in colorectal cancer. Khan, K., Hardy, R., Haq, A., Ogunbiyi, O., Morton, D., Chidgey, M. Br. J. Cancer (2006) [Pubmed]
  3. 5-Aza-2'-deoxycytidine-mediated reductions in G9A histone methyltransferase and histone H3 K9 di-methylation levels are linked to tumor suppressor gene reactivation. Wozniak, R.J., Klimecki, W.T., Lau, S.S., Feinstein, Y., Futscher, B.W. Oncogene (2007) [Pubmed]
  4. Effects of modulation of basic fibroblast growth factor on tumor growth in vivo. Gross, J.L., Herblin, W.F., Dusak, B.A., Czerniak, P., Diamond, M.D., Sun, T., Eidsvoog, K., Dexter, D.L., Yayon, A. J. Natl. Cancer Inst. (1993) [Pubmed]
  5. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Heuser, A., Plovie, E.R., Ellinor, P.T., Grossmann, K.S., Shin, J.T., Wichter, T., Basson, C.T., Lerman, B.B., Sasse-Klaassen, S., Thierfelder, L., MacRae, C.A., Gerull, B. Am. J. Hum. Genet. (2006) [Pubmed]
  6. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Syrris, P., Ward, D., Evans, A., Asimaki, A., Gandjbakhch, E., Sen-Chowdhry, S., McKenna, W.J. Am. J. Hum. Genet. (2006) [Pubmed]
  7. Regulation of synovial cell growth. Coexpression of transforming growth factor beta and basic fibroblast growth factor by cultured synovial cells. Goddard, D.H., Grossman, S.L., Williams, W.V., Weiner, D.B., Gross, J.L., Eidsvoog, K., Dasch, J.R. Arthritis Rheum. (1992) [Pubmed]
  8. A 4 kb fragment of the desmocollin 3 promoter directs reporter gene expression to parakeratotic epidermis and primary hair follicles. Merritt, A.J., Zhu, K., Garrod, D.R., Chidgey, M.A. J. Invest. Dermatol. (2007) [Pubmed]
  9. Exacerbation of paraneoplastic pemphigus by cyclophosphamide treatment: detection of novel autoantigens and bronchial autoantibodies. Preisz, K., Horváth, A., Sárdy, M., Somlai, B., Hársing, J., Amagai, M., Hashimoto, T., Nagata, Y., Fekete, S., Kárpáti, S. Br. J. Dermatol. (2004) [Pubmed]
  10. Hierarchical expression of desmosomal cadherins during stratified epithelial morphogenesis in the mouse. King, I.A., Angst, B.D., Hunt, D.M., Kruger, M., Arnemann, J., Buxton, R.S. Differentiation (1997) [Pubmed]
  11. Lipid metabolism in trained rats: effect of guarana (Paullinia cupana Mart.) supplementation. Lima, W.P., Carnevali, L.C., Eder, R., Costa Rosa, L.F., Bacchi, E.M., Seelaender, M.C. Clinical nutrition (Edinburgh, Scotland) (2005) [Pubmed]
  12. Inhibition of angiogenesis in rats by IL-1 receptor antagonist and selected cytokine antibodies. Hu, D.E., Hori, Y., Presta, M., Gresham, G.A., Fan, T.P. Inflammation (1994) [Pubmed]
  13. Structural analysis reflects the evolutionary relationship between the human desmocollin gene family members. Cserhalmi-Friedman, P.B., Frank, J.A., Ahmad, W., Panteleyev, A.A., Aita, V.M., Christiano, A.M. Exp. Dermatol. (2001) [Pubmed]
  14. An experimental immunoscintigraphic study with anti-CEA monoclonal antibody (DG2). Koprivová, H., Novák, F., Poucková, P., Svihovcová, P., Jantscheff, P., Bötgger, V., Micheel, B., Dvorák, P., Seblová, J., Pospísil, J. Neoplasma (1990) [Pubmed]
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