The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. Mutations in DSC2 are associated with ARVC also called arrhythmogenic cardiomyopathy. Recently, also mutations with a recessive inheritance were identified in AC patients.
^Amagai M, Wang Y, Minoshima S, Kawamura K, Green KJ, Nishikawa T, Shimizu N (Jul 1995). "Assignment of the human genes for desmocollin 3 (DSC3) and desmocollin 4 (DSC4) to chromosome 18q12". Genomics25 (1): 330–2. doi:10.1016/0888-7543(95)80154-E. PMID7774948.
Arnemann J, Spurr NK, Wheeler GN, et al. (1991). "Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP)". Genomics10 (3): 640–5. doi:10.1016/0888-7543(91)90446-L. PMID1889810.
Parker AE, Wheeler GN, Arnemann J, et al. (1991). "Desmosomal glycoproteins II and III. Cadherin-like junctional molecules generated by alternative splicing". J. Biol. Chem.266 (16): 10438–45. PMID2037591.
Garrod DR, Fleming S (1990). "Early expression of desmosomal components during kidney tubule morphogenesis in human and murine embryos". Development108 (2): 313–21. PMID2112455.
Nuber UA, Schäfer S, Schmidt A, et al. (1995). "The widespread human desmocollin Dsc2 and tissue-specific patterns of synthesis of various desmocollin subtypes". Eur. J. Cell Biol.66 (1): 69–74. PMID7750520.
Kawamura K, Watanabe K, Suzuki T, et al. (1994). "cDNA cloning and expression of a novel human desmocollin". J. Biol. Chem.269 (42): 26295–302. PMID7929347.
Buxton RS, Wheeler GN, Pidsley SC, et al. (1994). "Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18". Genomics21 (3): 510–6. doi:10.1006/geno.1994.1309. PMID7959727.
Theis DG, Koch PJ, Franke WW (1993). "Differential synthesis of type 1 and type 2 desmocollin mRNAs in human stratified epithelia". Int. J. Dev. Biol.37 (1): 101–10. PMID8507556.
Marsden MD, Collins JE, Greenwood MD, et al. (1997). "Cloning and transcriptional analysis of the promoter of the human type 2 desmocollin gene (DSC2)". Gene186 (2): 237–47. doi:10.1016/S0378-1119(96)00715-9. PMID9074502.
Greenwood MD, Marsden MD, Cowley CM, et al. (1997). "Exon-intron organization of the human type 2 desmocollin gene (DSC2): desmocollin gene structure is closer to "classical" cadherins than to desmogleins". Genomics44 (3): 330–5. doi:10.1006/geno.1997.4894. PMID9325054.
Marcozzi C, Burdett ID, Buxton RS, Magee AI (1998). "Coexpression of both types of desmosomal cadherin and plakoglobin confers strong intercellular adhesion". J. Cell. Sci.111 (4): 495–509. PMID9443898.
Chen X, Bonne S, Hatzfeld M, et al. (2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". J. Biol. Chem.277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID11790773.