🧬 基因注释：WDR83
📝 官方信息
官方名称：WD repeat domain 83
功能摘要：This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPH1 置信度: 2.0
- HNRNPK 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- PRPF8 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf2 置信度: 1.0
- TIA1 置信度: 1.0
- U2af1 置信度: 1.0
- U2af2 置信度: 1.0
- UPF1 置信度: 1.0
🏥 关联疾病
hypercholanemia, familial
(0.498)
neurodevelopmental disorder with variable familial hypercholanemia
(0.453)
neurodegenerative disease
(0.303)
neurodevelopmental disorder with seizures and speech and walking impairment
(0.118)
alpha-mannosidosis
(0.118)