🧬 基因注释：NR3C2
📝 官方信息
官方名称：nuclear receptor subfamily 3 group C member 2
功能摘要：This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.412 · 证据 2 条
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- Tardbp 综合评分: 0.310 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- NOVA1 综合评分: 0.262 · 证据 2 条
- Nova2 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- FUBP1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- CPSF6 综合评分: 0.212 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录