🧬 基因注释：KCNQ2
官方名称：potassium voltage-gated channel subfamily Q member 2
功能摘要：The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
- MBNL2 综合评分: 0.374 · 证据 1 条
- Ptbp2 综合评分: 0.374 · 证据 1 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- Mbnl2 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Nova2 综合评分: 0.200 · 证据 1 条
- ELAVL3 综合评分: 0.198 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- NXF1 综合评分: 0.100 · 证据 1 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- UPF1 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录