🧬 基因注释：ZIC2
📝 官方信息
官方名称：Zic family zinc finger 2
功能摘要：This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.494 · 证据 2 条
- PTBP1 综合评分: 0.398 · 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
- FUBP1 综合评分: 0.348 · 证据 2 条
- RBM10 综合评分: 0.312 · 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
- fus 综合评分: 0.300 · 证据 1 条
- Rbmx 综合评分: 0.286 · 证据 1 条
- GRSF1 综合评分: 0.274 · 证据 2 条
- Tardbp 综合评分: 0.274 · 证据 1 条
- NOVA1 综合评分: 0.262 · 证据 2 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- ELAVL3 综合评分: 0.244 · 证据 1 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- UPF1 综合评分: 0.198 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录