SpliceAtlasDB
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🧬 基因注释:DDB2

📝 官方信息

官方名称:damage specific DNA binding protein 2

功能摘要:This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014].

🎯 作为靶基因的剪接因子
  • PTBP1 综合评分: 0.424 · 证据 2 条
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • RBFOX2 综合评分: 0.398 · 证据 2 条
  • SRSF9 综合评分: 0.362 · 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
  • HNRNPH1 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
  • QKI 综合评分: 0.350 · 证据 1 条
  • TIA1 综合评分: 0.348 · 证据 1 条
  • U2af1 综合评分: 0.324 · 证据 1 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • KHSRP 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
  • Srsf2 综合评分: 0.300 · 证据 1 条
  • Srsf3 综合评分: 0.300 · 证据 1 条
  • U2af2 综合评分: 0.286 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

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