🧬 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
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPM 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- AQR 置信度: 1.0
- CPSF1 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- Nova2 置信度: 1.0
- PRPF8 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbmx 置信度: 1.0
- Rbpms 置信度: 1.0
- Rnps1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录