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🧬 基因注释:CD53

📝 官方信息

官方名称:CD53 molecule

功能摘要:The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016].

🎯 作为靶基因的剪接因子
  • HNRNPL 综合评分: 0.362 · 证据 2 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • U2af1 综合评分: 0.336 · 证据 1 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • PRPF8 综合评分: 0.262 · 证据 1 条
  • RBM22 综合评分: 0.250 · 证据 2 条
  • CELF2 综合评分: 0.212 · 证据 2 条
  • Srsf1 综合评分: 0.212 · 证据 1 条
  • AQR 综合评分: 0.150 · 证据 1 条
  • Tardbp 综合评分: 0.150 · 证据 1 条
  • CSTF2T 综合评分: 0.100 · 证据 2 条
  • U2af2 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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