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Gene : DSC3 Homo sapiens

Name  ? desmocollin 3 Cytological Location  18q12.1
Brief Description  desmocollin 3
Description  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. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
  • synonyms:
  • CDHF3,
  • DSC4,
  • DSC,
  • DSC3,
  • NM_024423,
  • DSC2,
  • DSC,
  • DSC1,
  • X83929,
  • OTTHUMG00000179622,
  • uc002kwj.5,
  • CDHF3,
  • DSC1,
  • DSC2,
  • NM_001941,
  • DSC4,
  • HT-CP,
  • HGNC:3037
  • identifiers:
  • 1825,
  • ENSG00000134762,
  • DSC3

Genome feature

Region: gene ? Length: 53451  
Location: 18:30989365-31042815 reverse strand Cyto location: 18q12.1

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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457 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results