🧬 基因注释：TMEM185A
📝 官方信息
官方名称：transmembrane protein 185A
功能摘要：The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013].
🎯 作为靶基因的剪接因子
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- Tardbp 综合评分: 0.324 · 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
- SRSF2 综合评分: 0.300 · 证据 1 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
- UPF1 综合评分: 0.244 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- CSTF2T 综合评分: 0.162 · 证据 2 条
- U2af2 综合评分: 0.162 · 证据 1 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- DDX5 综合评分: 0.150 · 证据 2 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CPSF2 综合评分: 0.100 · 证据 1 条
- NXF1 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