SpliceAtlasDB
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🧬 基因注释:DSC3

📝 官方信息

官方名称:desmocollin 3

功能摘要: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].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.524 · 证据 2 条
  • HNRNPF 综合评分: 0.350 · 证据 2 条
  • QKI 综合评分: 0.350 · 证据 1 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPD 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • fus 综合评分: 0.300 · 证据 1 条
  • FUBP1 综合评分: 0.250 · 证据 2 条
  • RBM10 综合评分: 0.250 · 证据 2 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • Tardbp 综合评分: 0.248 · 证据 1 条
  • NXF1 综合评分: 0.162 · 证据 1 条
  • CPSF6 综合评分: 0.150 · 证据 2 条
  • CPSF7 综合评分: 0.150 · 证据 2 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • CSTF2T 综合评分: 0.100 · 证据 2 条
  • Rbmx 综合评分: 0.100 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

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