🧬 基因注释：VHL
📝 官方信息
官方名称：von Hippel-Lindau tumor suppressor
功能摘要：This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. In addition to oxygen-related gene expression, this protein plays a role in many other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.564 · 证据 2 条
- HNRNPH1 综合评分: 0.474 · 证据 2 条
- HNRNPA1 综合评分: 0.412 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPD 综合评分: 0.362 · 证据 2 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- KHSRP 综合评分: 0.362 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- SRSF9 综合评分: 0.362 · 证据 1 条
- HNRNPF 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- FUBP1 综合评分: 0.348 · 证据 2 条
- PRPF8 综合评分: 0.324 · 证据 1 条
- Srsf1 综合评分: 0.324 · 证据 1 条
- TIA1 综合评分: 0.312 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- PTBP1 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
- fus 综合评分: 0.300 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录