🧬 基因注释：GTF2IRD2
📝 官方信息
官方名称：GTF2I repeat domain containing 2
功能摘要：This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
🎯 作为靶基因的剪接因子
- HNRNPK 综合评分: 0.444 · 证据 2 条
- Tardbp 综合评分: 0.356 · 证据 1 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 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: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- CSTF2 综合评分: 0.212 · 证据 2 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- Larp7 综合评分: 0.162 · 证据 1 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CPSF2 综合评分: 0.100 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- Rbm7 综合评分: 0.100 · 证据 1 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- Tra2a 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