🧬 基因注释:PLCG2
📝 官方信息
官方名称:phospholipase C gamma 2
功能摘要:The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.510 · 证据 2 条
- RBFOX2 综合评分: 0.506 · 证据 2 条
- FUS 综合评分: 0.460 · 证据 1 条
- fus 综合评分: 0.460 · 证据 1 条
- HNRNPM 综合评分: 0.448 · 证据 2 条
- QKI 综合评分: 0.412 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- EWSR1 综合评分: 0.348 · 证据 2 条
- Rnps1 综合评分: 0.348 · 证据 1 条
- NOVA1 综合评分: 0.324 · 证据 2 条
- KHSRP 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
- SRSF9 综合评分: 0.300 · 证据 1 条
- PCBP2 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
- RBM39 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录