SpliceAtlasDB
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基因注释:TGFB3

官方信息

官方名称:transforming growth factor beta 3

功能摘要:This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016].

作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.412 · 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
  • FUS 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • Tardbp 综合评分: 0.294 · 证据 1 条
  • RBM10 综合评分: 0.250 · 证据 2 条
  • Mbnl2 综合评分: 0.200 · 证据 1 条
  • ELAVL3 综合评分: 0.162 · 证据 1 条
  • MSI1 综合评分: 0.150 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • Rbm7 综合评分: 0.100 · 证据 1 条
  • Rnps1 综合评分: 0.100 · 证据 1 条
  • Srsf7 综合评分: 0.100 · 证据 1 条
关联疾病

该基因暂无关联疾病记录

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