DSC2

Desmocollin 2
Identifiers
Symbols	DSC2; ARVD11; CDHF2; DG2; DGII/III; DKFZp686I11137; DSC3
External IDs	OMIM: 125645 MGI: 103221 HomoloGene: 8397 GeneCards: DSC2 Gene
Gene Ontology Molecular function • calcium ion binding Cellular component • plasma membrane • cell-cell adherens junction • integral to membrane • cell junction • desmosome Biological process • cell adhesion • homophilic cell adhesion Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1824	13506
Ensembl	ENSG00000134755	ENSMUSG00000024331
UniProt	Q02487	Q8C5C8
RefSeq (mRNA)	NM_004949.3	NM_013505.3
RefSeq (protein)	NP_004940.1	NP_038533.1
Location (UCSC)	Chr 18: 28.65 – 28.68 Mb	Chr 18: 20.19 – 20.22 Mb
PubMed search	[1]	[2]

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]

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. ^ ^{a b} "Entrez Gene: DSC2 desmocollin 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1824. 

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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2119574. 
• 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 ( Pt 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=16267. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1222391. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 

External links

• GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
• OMIM entries on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant