🧬 基因注释：OCRL
📝 官方信息
官方名称：OCRL inositol polyphosphate-5-phosphatase
功能摘要：This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.510 · 证据 2 条
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- QKI 综合评分: 0.412 · 证据 1 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Tardbp 综合评分: 0.324 · 证据 1 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
- HNRNPK 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
- PTBP1 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
- PRPF8 综合评分: 0.298 · 证据 1 条
- GRSF1 综合评分: 0.274 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录