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🧬 基因注释:IL2RA

📝 官方信息

官方名称:interleukin 2 receptor subunit alpha

功能摘要:The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020].

🎯 作为靶基因的剪接因子
  • HNRNPL 综合评分: 0.362 · 证据 2 条
  • RBM39 综合评分: 0.250 · 证据 2 条
  • GRSF1 综合评分: 0.212 · 证据 2 条
  • UPF1 综合评分: 0.162 · 证据 1 条
  • CPSF6 综合评分: 0.150 · 证据 2 条
  • MSI1 综合评分: 0.150 · 证据 1 条
  • Srsf6 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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