🧬 基因注释：DYNC2H1
📝 官方信息
官方名称：dynein cytoplasmic 2 heavy chain 1
功能摘要：This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010].
🎯 作为靶基因的剪接因子
- RBFOX2 综合评分: 0.460 · 证据 2 条
- HNRNPA1 综合评分: 0.412 · 证据 2 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- PTBP1 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
- HNRNPM 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- FUBP1 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 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
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- Ptbp2 综合评分: 0.298 · 证据 1 条
- NOVA1 综合评分: 0.262 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录