TGFB3 gene

The TGFB3 gene (TGFB3 stands for Transforming Growth Factor Beta 3) is a protein-coding gene located on chromosome 14q24.3. An important paralog of this gene is TGFB2.

The TGFB3 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, which leads to the recruitment and activation of transcription factors of the SMAD family that regulate gene expression. The encoded preprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is present either in a latent form consisting 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 can also form heterodimers with other members of the TGF-beta family.

The protein is involved in embryogenesis and cell differentiation and may play a role in wound healing.

Diseases associated with TGFB3 include:

• Loeys-Dietz syndrome
• and
• familial arrhythmogenic right ventricular dysplasia

TGFB3 polymorphisms are associated with male infertility (Droździk M et al. 2015)

1. Droździk M et al. (2015) TGFβ3 (TGFB3) polymorphism is associated with male infertility. Sci Rep. 5:17151.
2. Sun T et al. (2021) TGFβ2 and TGFβ3 isoforms drive fibrotic disease pathogenesis. Sci Transl Med. 13:eabe0407.