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🧬 基因注释:ITPR2

📝 官方信息

官方名称:inositol 1,4,5-trisphosphate receptor type 2

功能摘要:The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015].

🎯 作为靶基因的剪接因子
  • HNRNPK 综合评分: 0.362 · 证据 2 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • HNRNPC 综合评分: 0.350 · 证据 2 条
  • HNRNPH1 综合评分: 0.350 · 证据 2 条
  • HNRNPM 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
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • KHSRP 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
  • SRSF9 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • PRPF8 综合评分: 0.262 · 证据 1 条
  • SF3A3 综合评分: 0.262 · 证据 1 条
  • EWSR1 综合评分: 0.250 · 证据 2 条
  • FUBP1 综合评分: 0.250 · 证据 2 条
🏥 关联疾病

该基因暂无关联疾病记录

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