🧬 基因注释：ARHGEF9
📝 官方信息
官方名称：Cdc42 guanine nucleotide exchange factor 9
功能摘要：The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPK 综合评分: 0.362 · 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
- QKI 综合评分: 0.350 · 证据 1 条
- ELAVL3 综合评分: 0.336 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPL 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
- SRSF3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- MBNL2 综合评分: 0.298 · 证据 1 条
- Mbnl2 综合评分: 0.262 · 证据 1 条
- FUBP1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Tardbp 综合评分: 0.212 · 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
🏥 关联疾病
该基因暂无关联疾病记录