DSC2

Desmocollin 2
Identifiers
SymbolsDSC2 ; ARVD11; CDHF2; DG2; DGII/III; DSC3
External IDsOMIM: 125645 MGI: 103221 HomoloGene: 8397 GeneCards: DSC2 Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez182413506
EnsemblENSG00000134755ENSMUSG00000024331
UniProtQ02487P55292
RefSeq (mRNA)NM_004949NM_013505
RefSeq (protein)NP_004940NP_038533
Location (UCSC)Chr 18:
28.65 – 28.68 Mb		Chr 18:
20.03 – 20.06 Mb
PubMed search

Desmocollin-2 is a protein that in humans is encoded by the DSC2 gene.[1][2]

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.[2] Mutations in DSC2 are associated with ARVC also called arrhythmogenic cardiomyopathy.[3] Recently, also mutations with a recessive inheritance were identified in AC patients.[4][5]

References

  1. ↑ 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". Genomics 25 (1): 330–2. doi:10.1016/0888-7543(95)80154-E. PMID 7774948.
  2. ↑ 2.0 2.1 "Entrez Gene: DSC2 desmocollin 2".
  3. ↑ 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 (2006). "Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy". The American Journal of Human Genetics 79 (6): 1081–8. doi:10.1086/509044. PMC 1698714. PMID 17186466.
  4. ↑ Gerull, B; Kirchner, F; Chong, J. X.; Tagoe, J; Chandrasekharan, K; Strohm, O; Waggoner, D; Ober, C; Duff, H. J. (2013). "Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population". Circulation: Cardiovascular Genetics 6 (4): 327–36. doi:10.1161/CIRCGENETICS.113.000097. PMID 23863954.
  5. ↑ Al-Sabeq, B; Krahn, A. D.; Conacher, S; Klein, G. J.; Laksman, Z (2014). "Arrhythmogenic right ventricular cardiomyopathy with recessive inheritance related to a new homozygous desmocollin-2 mutation". Canadian Journal of Cardiology 30 (6): 696.e1–3. doi:10.1016/j.cjca.2014.01.014. PMID 24793512.

Further reading

  • Buxton RS, Cowin P, Franke WW et al. (1993). "Nomenclature of the desmosomal cadherins". J. Cell Biol. 121 (3): 481–3. doi:10.1083/jcb.121.3.481. PMC 2119574. PMID 8486729.
  • 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)". Genomics 10 (3): 640–5. doi:10.1016/0888-7543(91)90446-L. PMID 1889810.
  • 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. PMID 2037591.
  • Garrod DR, Fleming S (1990). "Early expression of desmosomal components during kidney tubule morphogenesis in human and murine embryos". Development 108 (2): 313–21. PMID 2112455.
  • 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. PMID 7750520.
  • 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. PMID 7929347.
  • 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". Genomics 21 (3): 510–6. doi:10.1006/geno.1994.1309. PMID 7959727.
  • 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. PMID 8507556.
  • Marsden MD, Collins JE, Greenwood MD et al. (1997). "Cloning and transcriptional analysis of the promoter of the human type 2 desmocollin gene (DSC2)". Gene 186 (2): 237–47. doi:10.1016/S0378-1119(96)00715-9. PMID 9074502.
  • 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". Genomics 44 (3): 330–5. doi:10.1006/geno.1997.4894. PMID 9325054.
  • King IA, Angst BD, Hunt DM et al. (1997). "Hierarchical expression of desmosomal cadherins during stratified epithelial morphogenesis in the mouse". Differentiation 62 (2): 83–96. doi:10.1046/j.1432-0436.1997.6220083.x. PMID 9404003.
  • 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. PMID 9443898.
  • Kurzen H, Moll I, Moll R et al. (1998). "Compositionally different desmosomes in the various compartments of the human hair follicle". Differentiation 63 (5): 295–304. doi:10.1046/j.1432-0436.1998.6350295.x. PMID 9810708.
  • Dias Neto E, Correa RG, Verjovski-Almeida S et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
  • 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. PMID 11790773.
  • Syed SE, Trinnaman B, Martin S et al. (2002). "Molecular interactions between desmosomal cadherins". Biochem. J. 362 (Pt 2): 317–27. doi:10.1042/0264-6021:3620317. PMC 1222391. PMID 11853539.
  • Bloor DJ, Metcalfe AD, Rutherford A et al. (2002). "Expression of cell adhesion molecules during human preimplantation embryo development". Mol. Hum. Reprod. 8 (3): 237–45. doi:10.1093/molehr/8.3.237. PMID 11870231.
  • Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

External links