🧬 基因注释：IQSEC2
📝 官方信息
官方名称：IQ motif and Sec7 domain ArfGEF 2
功能摘要：This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011].
🎯 作为靶基因的剪接因子
- HNRNPK 综合评分: 0.362 · 证据 2 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
- 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
- U2af1 综合评分: 0.274 · 证据 1 条
- AQR 综合评分: 0.212 · 证据 1 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- Nova2 综合评分: 0.200 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- U2af2 综合评分: 0.162 · 证据 1 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- CPSF1 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