SpliceAtlasDB
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🧬 基因注释:SEC24D

📝 官方信息

官方名称:SEC24 homolog D, COPII component

功能摘要:The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015].

🎯 作为靶基因的剪接因子
  • HNRNPL 综合评分: 0.424 · 证据 2 条
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • FUS 综合评分: 0.398 · 证据 1 条
  • fus 综合评分: 0.398 · 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
  • HNRNPM 综合评分: 0.350 · 证据 2 条
  • RBM22 综合评分: 0.312 · 证据 2 条
  • HNRNPK 综合评分: 0.300 · 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
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • SRSF9 综合评分: 0.300 · 证据 1 条
  • Srsf3 综合评分: 0.300 · 证据 1 条
  • CSTF2 综合评分: 0.274 · 证据 2 条
  • U2af1 综合评分: 0.274 · 证据 1 条
  • U2af2 综合评分: 0.274 · 证据 1 条
  • PCBP2 综合评分: 0.262 · 证据 1 条
  • FUBP1 综合评分: 0.250 · 证据 2 条
  • RBM10 综合评分: 0.250 · 证据 2 条
🏥 关联疾病

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