DSC2

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Desmocollin 2
Identifiers
Symbols DSC2 ; ARVD11; CDHF2; DG2; DGII/III; DSC3
External IDs OMIM125645 MGI103221 HomoloGene8397 GeneCards: DSC2 Gene
RNA expression pattern
PBB GE DSC2 204750 s at tn.png
PBB GE DSC2 204751 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1824 13506
Ensembl ENSG00000134755 ENSMUSG00000024331
UniProt Q02487 P55292
RefSeq (mRNA) NM_004949 NM_013505
RefSeq (protein) NP_004940 NP_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[edit]

  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". 
  3. ^ http://www.ncbi.nlm.nih.gov/pubmed/17186466
  4. ^ http://www.ncbi.nlm.nih.gov/pubmed/23863954
  5. ^ http://www.ncbi.nlm.nih.gov/pubmed/24793512

Further reading[edit]

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