🧬 基因注释：TBC1D7
📝 官方信息
官方名称：TBC1 domain family member 7
功能摘要：This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016].
🎯 作为靶基因的剪接因子
- HNRNPH1 综合评分: 0.474 · 证据 2 条
- Tardbp 综合评分: 0.364 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 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
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- Rbmx 综合评分: 0.162 · 证据 1 条
- Srsf7 综合评分: 0.162 · 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