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🧬 基因注释:RUNX2

📝 官方信息

官方名称:RUNX family transcription factor 2

功能摘要:This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016].

🎯 作为靶基因的剪接因子
  • 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
  • QKI 综合评分: 0.350 · 证据 1 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • CELF2 综合评分: 0.248 · 证据 2 条
  • Tardbp 综合评分: 0.212 · 证据 1 条
  • Mbnl2 综合评分: 0.200 · 证据 1 条
  • PCBP2 综合评分: 0.200 · 证据 1 条
  • Ptbp2 综合评分: 0.200 · 证据 1 条
  • Rbm7 综合评分: 0.198 · 证据 1 条
  • NXF1 综合评分: 0.162 · 证据 1 条
  • Rbpms 综合评分: 0.162 · 证据 1 条
  • CPSF7 综合评分: 0.150 · 证据 2 条
  • MSI1 综合评分: 0.150 · 证据 1 条
  • Srsf2 综合评分: 0.150 · 证据 1 条
🏥 关联疾病

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