🧬 基因注释：MEF2C
📝 官方信息
官方名称：myocyte enhancer factor 2C
功能摘要：This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010].
🎯 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
- MBNL1 综合评分: 0.350 · 证据 2 条
- ELAVL3 综合评分: 0.348 · 证据 1 条
- RBM39 综合评分: 0.312 · 证据 2 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
- SRSF2 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: 0.262 · 证据 1 条
- Nova2 综合评分: 0.262 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- MBNL2 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
- CPSF6 综合评分: 0.150 · 证据 2 条
- CSTF2 综合评分: 0.150 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录