🧬 基因注释:CCDC22
📝 官方信息
官方名称:CCC complex scaffolding subunit CCDC22
功能摘要:This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013].
🎯 作为靶基因的剪接因子
- HNRNPL 综合评分: 0.398 · 证据 2 条
- Tardbp 综合评分: 0.364 · 证据 1 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.298 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- YBX1 综合评分: 0.162 · 证据 1 条
- AQR 综合评分: 0.150 · 证据 1 条
- CPSF4 综合评分: 0.150 · 证据 2 条
- DDX5 综合评分: 0.150 · 证据 2 条
- GRSF1 综合评分: 0.150 · 证据 2 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
- NXF1 综合评分: 0.100 · 证据 1 条
- Rbm7 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