🧬 基因注释：ITGA2B
📝 官方信息
官方名称：integrin subunit alpha 2b
功能摘要：This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016].
🎯 作为靶基因的剪接因子
- U2af1 综合评分: 0.372 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- U2af2 综合评分: 0.260 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- AQR 综合评分: 0.212 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- Rnps1 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