🧬 基因注释：EARS2
📝 官方信息
官方名称：glutamyl-tRNA synthetase 2, mitochondrial
功能摘要：This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.510 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- SRSF9 综合评分: 0.362 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- PCBP2 综合评分: 0.344 · 证据 1 条
- RBM10 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- U2af1 综合评分: 0.248 · 证据 1 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- SF3A3 综合评分: 0.200 · 证据 1 条
- ELAVL3 综合评分: 0.198 · 证据 1 条
- U2af2 综合评分: 0.162 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录