🧬 基因注释：BCAP31
📝 官方信息
官方名称：B cell receptor associated protein 31
功能摘要：This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012].
🎯 作为靶基因的剪接因子
- RBFOX2 综合评分: 0.474 · 证据 2 条
- FUS 综合评分: 0.444 · 证据 1 条
- fus 综合评分: 0.444 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- CELF2 综合评分: 0.379 · 证据 2 条
- U2af1 综合评分: 0.364 · 证据 1 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Mbnl2 综合评分: 0.344 · 证据 1 条
- PCBP2 综合评分: 0.344 · 证据 1 条
- UPF1 综合评分: 0.314 · 证据 1 条
- ELAVL3 综合评分: 0.306 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.300 · 证据 1 条
- Rnps1 综合评分: 0.286 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录