🧬 基因注释：KLHL12
📝 官方信息
官方名称：kelch like family member 12
功能摘要：This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.494 · 证据 2 条
- FUS 综合评分: 0.424 · 证据 1 条
- fus 综合评分: 0.424 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- PRPF8 综合评分: 0.324 · 证据 1 条
- RBM15 综合评分: 0.312 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- GRSF1 综合评分: 0.212 · 证据 2 条
- U2af1 综合评分: 0.212 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- UPF1 综合评分: 0.162 · 证据 1 条
- AQR 综合评分: 0.150 · 证据 1 条
- CPSF4 综合评分: 0.150 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录