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🧬 基因注释:DSC2

📝 官方信息

官方名称:desmocollin 2

功能摘要:This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015].

🎯 作为靶基因的剪接因子
  • PTBP1 综合评分: 0.460 · 证据 2 条
  • HNRNPF 综合评分: 0.350 · 证据 2 条
  • FUBP1 综合评分: 0.312 · 证据 2 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
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • fus 综合评分: 0.300 · 证据 1 条
  • Tardbp 综合评分: 0.294 · 证据 1 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • TIA1 综合评分: 0.250 · 证据 1 条
  • Rnps1 综合评分: 0.224 · 证据 1 条
  • PCBP2 综合评分: 0.200 · 证据 1 条
  • PRPF8 综合评分: 0.200 · 证据 1 条
  • FUBP3 综合评分: 0.162 · 证据 2 条
  • AQR 综合评分: 0.150 · 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
  • PRPF4 综合评分: 0.150 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

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