🧬 基因注释：CHMP2B
📝 官方信息
官方名称：charged multivesicular body protein 2B
功能摘要：This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.412 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- TIA1 综合评分: 0.312 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- ELAVL3 综合评分: 0.296 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- FUBP1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- CSTF2 综合评分: 0.248 · 证据 2 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- MBNL2 综合评分: 0.200 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录