🧬 基因注释：MAGED2
📝 官方信息
官方名称：MAGE family member D2
功能摘要：This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017].
🎯 作为靶基因的剪接因子
- FUS 综合评分: 0.474 · 证据 1 条
- fus 综合评分: 0.474 · 证据 1 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
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Ptbp2 综合评分: 0.344 · 证据 1 条
- NOVA1 综合评分: 0.324 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- SF3A3 综合评分: 0.262 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- CSTF2 综合评分: 0.248 · 证据 2 条
- Srsf1 综合评分: 0.248 · 证据 1 条
- Tardbp 综合评分: 0.248 · 证据 1 条
- Rbmx 综合评分: 0.244 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录