🧬 基因注释:EFHC2
📝 官方信息
官方名称:EF-hand domain containing 2
功能摘要:This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPD 置信度: 2.0
- PTBP1 置信度: 2.0
- RBM15 置信度: 2.0
- FUS 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF8 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbpms 置信度: 1.0
- Rnps1 置信度: 1.0
- SRSF2 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf7 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
- U2af2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录