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🧬 基因注释:KCNJ3

📝 官方信息

官方名称:potassium inwardly rectifying channel subfamily J member 3

功能摘要:Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012].

🎯 作为靶基因的剪接因子
  • Srsf3 综合评分: 0.310 · 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
  • fus 综合评分: 0.300 · 证据 1 条
  • Ptbp2 综合评分: 0.262 · 证据 1 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • MBNL2 综合评分: 0.200 · 证据 1 条
  • Mbnl2 综合评分: 0.200 · 证据 1 条
  • Nova2 综合评分: 0.200 · 证据 1 条
  • ELAVL3 综合评分: 0.198 · 证据 1 条
  • MSI1 综合评分: 0.150 · 证据 1 条
  • Srsf2 综合评分: 0.150 · 证据 1 条
  • Srsf4 综合评分: 0.150 · 证据 1 条
  • Tardbp 综合评分: 0.150 · 证据 1 条
  • NXF1 综合评分: 0.100 · 证据 1 条
  • Rbmx 综合评分: 0.100 · 证据 1 条
  • Snrpa 综合评分: 0.100 · 证据 1 条
🏥 关联疾病

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