🧬 基因注释：GEMIN5
📝 官方信息
官方名称：gem nuclear organelle associated protein 5
功能摘要：This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.412 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 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
- fus 综合评分: 0.300 · 证据 1 条
- Tardbp 综合评分: 0.294 · 证据 1 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- U2af2 综合评分: 0.244 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- ELAVL3 综合评分: 0.198 · 证据 1 条
- UPF1 综合评分: 0.198 · 证据 1 条
- Rbmx 综合评分: 0.162 · 证据 1 条
- Rnps1 综合评分: 0.162 · 证据 1 条
- ACIN1 综合评分: 0.150 · 证据 2 条
🏥 关联疾病
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
高关联 (0.818)
genetic disorder
中关联 (0.505)
neurodegenerative disease
中关联 (0.462)
alcohol drinking
低关联 (0.372)
autosomal recessive non-syndromic intellectual disability
低关联 (0.370)
enteritis
低关联 (0.343)
Hodgkins lymphoma
低关联 (0.277)
essential tremor
低关联 (0.111)