SpliceAtlasDB
← 返回基因注释查询

🧬 基因注释:SNRNP200

📝 官方信息

官方名称:small nuclear ribonucleoprotein U5 subunit 200

功能摘要:Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010].

🎯 作为靶基因的剪接因子
  • FUS 综合评分: 0.496 · 证据 1 条
  • fus 综合评分: 0.496 · 证据 1 条
  • RBFOX2 综合评分: 0.486 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • HNRNPM 综合评分: 0.412 · 证据 2 条
  • Tardbp 综合评分: 0.403 · 证据 1 条
  • HNRNPK 综合评分: 0.398 · 证据 2 条
  • Srsf3 综合评分: 0.398 · 证据 1 条
  • Srsf2 综合评分: 0.362 · 证据 1 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • EWSR1 综合评分: 0.312 · 证据 2 条
  • RBM22 综合评分: 0.312 · 证据 2 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • HNRNPU 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
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • SRSF9 综合评分: 0.300 · 证据 1 条
  • NOVA1 综合评分: 0.298 · 证据 2 条
🏥 关联疾病
retinitis pigmentosa
高关联 (0.818)
Retinal dystrophy
中关联 (0.631)
autosomal dominant retinitis pigmentosa
中关联 (0.524)
neurodegenerative disease
低关联 (0.397)
eye disease
低关联 (0.370)
dengue disease
低关联 (0.370)
inherited retinal dystrophy
低关联 (0.370)
cervical carcinoma
低关联 (0.255)
genetic disorder
低关联 (0.193)
Rod-cone dystrophy
低关联 (0.149)
🔍 查看该基因的所有关联疾病
🔗 外部数据库链接