🧬 基因注释：KCNQ3
📝 官方信息
官方名称：potassium voltage-gated channel subfamily Q member 3
功能摘要：This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014].
🎯 作为靶基因的剪接因子
- CELF2 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPD 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- NOVA1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM20 置信度: 2.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- Larp7 置信度: 1.0
- MBNL2 置信度: 1.0
- Mbnl2 置信度: 1.0
- Nova2 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbpms 置信度: 1.0
- Srsf2 置信度: 1.0
- Srsf3 置信度: 1.0
- Srsf4 置信度: 1.0
- Tardbp 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录