🧬 基因注释：JAK3
📝 官方信息
官方名称：Janus kinase 3
功能摘要：The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- CELF2 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- RBFOX2 置信度: 2.0
- AQR 置信度: 1.0
- ELAVL3 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
- SRSF2 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf2 置信度: 1.0
- Srsf3 置信度: 1.0
- Srsf7 置信度: 1.0
- U2af1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录