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Open Access Articles- Top Results for DSC2

DSC2

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Identifiers
SymbolsDSC2 ; ARVD11; CDHF2; DG2; DGII/III; DSC3
External IDsOMIM125645 MGI103221 HomoloGene8397 GeneCards: DSC2 Gene
RNA expression pattern
File:PBB GE DSC2 204750 s at tn.png
File:PBB GE DSC2 204751 x at tn.png
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[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] 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. PMID 7774948. doi:10.1016/0888-7543(95)80154-E. 
  2. ^ a b "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. PMC 1698714. PMID 17186466. doi:10.1086/509044.  edit
  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. PMID 23863954. doi:10.1161/CIRCGENETICS.113.000097.  edit
  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. PMID 24793512. doi:10.1016/j.cjca.2014.01.014.  edit

Further reading

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External links



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