🧬 基因注释：EVPL
📝 官方信息
官方名称：envoplakin
功能摘要：This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016].
🎯 作为靶基因的剪接因子
- ACIN1 置信度: 2.0
- CSTF2 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
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- AQR 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
- SF3A3 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
- Tra2b 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录