🧬 基因注释:RIMS1
📝 官方信息
官方名称:regulating synaptic membrane exocytosis 1
功能摘要:The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012].
🎯 作为靶基因的剪接因子
- MBNL2 综合评分: 0.360 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- Ptbp2 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- NOVA1 综合评分: 0.200 · 证据 2 条
- Nova2 综合评分: 0.200 · 证据 1 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- ELAVL3 综合评分: 0.100 · 证据 1 条
- RBM20 综合评分: 0.100 · 证据 2 条
- Rbm7 综合评分: 0.100 · 证据 1 条
- Rbpms 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