🧬 基因注释：NPHP3
📝 官方信息
官方名称：nephrocystin 3
功能摘要：This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011].
🎯 作为靶基因的剪接因子
- FUS 综合评分: 0.424 · 证据 1 条
- fus 综合评分: 0.424 · 证据 1 条
- QKI 综合评分: 0.412 · 证据 1 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 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
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- FUBP1 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
- TIA1 综合评分: 0.250 · 证据 1 条
- CELF2 综合评分: 0.212 · 证据 2 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- Srsf3 综合评分: 0.212 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录