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基因注释:P2RX6

官方信息

官方名称:purinergic receptor P2X 6

功能摘要:The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009].

作为靶基因的剪接因子
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • PRPF8 综合评分: 0.200 · 证据 1 条
  • CSTF2T 综合评分: 0.162 · 证据 2 条
  • U2af2 综合评分: 0.162 · 证据 1 条
  • CPSF6 综合评分: 0.150 · 证据 2 条
  • EIF4A3 综合评分: 0.100 · 证据 2 条
  • Rbm7 综合评分: 0.100 · 证据 1 条
  • Rnps1 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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