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🧬 基因注释:TXNL4A

📝 官方信息

官方名称:thioredoxin like 4A

功能摘要:The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015].

🎯 作为靶基因的剪接因子
  • HNRNPA1 综合评分: 0.412 · 证据 2 条
  • HNRNPU 综合评分: 0.362 · 证据 2 条
  • PTBP1 综合评分: 0.362 · 证据 2 条
  • RBFOX2 综合评分: 0.362 · 证据 2 条
  • Srsf3 综合评分: 0.362 · 证据 1 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • HNRNPC 综合评分: 0.350 · 证据 2 条
  • HNRNPM 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • TIA1 综合评分: 0.348 · 证据 1 条
  • EWSR1 综合评分: 0.312 · 证据 2 条
  • RBM22 综合评分: 0.312 · 证据 2 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • SRSF9 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
  • RBM10 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
高关联 (0.764)
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
高关联 (0.747)
dengue disease
低关联 (0.370)
cleft palate
低关联 (0.370)
genetic disorder
低关联 (0.173)
neurodegenerative disease
低关联 (0.167)
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