🧬 基因注释：ACTA2
📝 官方信息
官方名称：actin alpha 2, smooth muscle
功能摘要：This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017].
🎯 作为靶基因的剪接因子
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- HNRNPC 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: 0.298 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- GRSF1 综合评分: 0.212 · 证据 2 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- U2af1 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
- RBM20 综合评分: 0.100 · 证据 2 条
- Rbm7 综合评分: 0.100 · 证据 1 条
- Rbmx 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录