🧬 基因注释：TGFB2
官方名称：transforming growth factor beta 2
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. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016].
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPD 置信度: 2.0
- MBNL1 置信度: 2.0
- RBM15 置信度: 2.0
- RBM20 置信度: 2.0
- ELAVL3 置信度: 1.0
- MBNL2 置信度: 1.0
- MSI1 置信度: 1.0
- NXF1 置信度: 1.0
- PCBP2 置信度: 1.0
- Rbmx 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf2 置信度: 1.0
- Srsf7 置信度: 1.0
- TIA1 置信度: 1.0
- Tardbp 置信度: 1.0
- Tra2b 置信度: 1.0
该基因暂无关联疾病记录