🧬 基因注释：SCN5A
📝 官方信息
官方名称：sodium voltage-gated channel alpha subunit 5
功能摘要：The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022].
🎯 作为靶基因的剪接因子
- HNRNPD 综合评分: 0.398 · 证据 2 条
- SRSF3 综合评分: 0.362 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- RBM25 综合评分: 0.350 · 证据 2 条
- Tardbp 综合评分: 0.310 · 证据 1 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.300 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- RBM22 综合评分: 0.250 · 证据 2 条
- RBM39 综合评分: 0.250 · 证据 2 条
- Rbmx 综合评分: 0.224 · 证据 1 条
- NOVA1 综合评分: 0.200 · 证据 2 条
- Nova2 综合评分: 0.200 · 证据 1 条
- RBM17 综合评分: 0.200 · 证据 2 条
- RBM24 综合评分: 0.200 · 证据 2 条
- RBM6 综合评分: 0.200 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录