🧬 基因注释:SHROOM4
📝 官方信息
官方名称:shroom family member 4
功能摘要:This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- Nova2 综合评分: 0.262 · 证据 1 条
- Srsf3 综合评分: 0.212 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- MSI1 综合评分: 0.150 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- ELAVL3 综合评分: 0.100 · 证据 1 条
- Srsf7 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录