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🧬 基因注释:GRIN2A

📝 官方信息

官方名称:glutamate ionotropic receptor NMDA type subunit 2A

功能摘要:This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014].

🎯 作为靶基因的剪接因子
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • Nova2 综合评分: 0.344 · 证据 1 条
  • MBNL2 综合评分: 0.324 · 证据 1 条
  • NOVA1 综合评分: 0.324 · 证据 2 条
  • RBM10 综合评分: 0.312 · 证据 2 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • SRSF9 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • ELAVL3 综合评分: 0.296 · 证据 1 条
  • Mbnl2 综合评分: 0.200 · 证据 1 条
  • Ptbp2 综合评分: 0.200 · 证据 1 条
  • Tardbp 综合评分: 0.150 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • CPSF1 综合评分: 0.100 · 证据 1 条
  • NXF1 综合评分: 0.100 · 证据 1 条
  • RBM20 综合评分: 0.100 · 证据 2 条
  • Rbmx 综合评分: 0.100 · 证据 1 条
  • Rbpms 综合评分: 0.100 · 证据 1 条
  • Srsf7 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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