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🧬 基因注释:NSD2

📝 官方信息

官方名称:nuclear receptor binding SET domain protein 2

功能摘要:This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • HNRNPA2B1 综合评分: 0.474 · 证据 2 条
  • Tardbp 综合评分: 0.465 · 证据 1 条
  • HNRNPH1 综合评分: 0.448 · 证据 2 条
  • HNRNPM 综合评分: 0.448 · 证据 2 条
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • HNRNPL 综合评分: 0.398 · 证据 2 条
  • RBFOX2 综合评分: 0.398 · 证据 2 条
  • HNRNPA1 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: 0.312 · 证据 1 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPD 综合评分: 0.300 · 证据 2 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
  • 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
🏥 关联疾病

该基因暂无关联疾病记录

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