🧬 基因注释：PKD2
📝 官方信息
官方名称：polycystin 2, transient receptor potential cation channel
功能摘要：This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- EWSR1 置信度: 2.0
- FUBP1 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPD 置信度: 2.0
- HNRNPH1 置信度: 2.0
- HNRNPL 置信度: 2.0
- MBNL1 置信度: 2.0
- NOVA1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- RBM20 置信度: 2.0
🏥 关联疾病
该基因暂无关联疾病记录