🧬 基因注释：RIN2
📝 官方信息
官方名称：Ras and Rab interactor 2
功能摘要：The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- QKI 综合评分: 0.412 · 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
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- NOVA1 综合评分: 0.298 · 证据 2 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- Ptbp2 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