TGFB2 gene

The TGFB2 gene (TGFB2 stands for: Transforming Growth Factor Beta 2) is a protein-coding gene located on chromosome 1q41. The TGFB2 gene encodes several isoforms that may be subject to similar proteolytic processing. The TGFB2 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. An important paralog of this gene is TGFB3.

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, an LAP homodimer and a latent TGF-beta binding protein, or in an active form consisting only of the mature peptide homodimer. The mature peptide can also form heterodimers with other members of the TGF-beta family.

TGF2 is a multifunctional protein that regulates various processes such as angiogenesis and heart development. After cleavage of the proprotein in the Golgi apparatus, the chains of the latency-associated peptide (LAP) and the transforming growth factor beta-2 (TGF-beta-2) remain non-covalently linked, which means that TGF-beta-2 remains inactive during storage in the extracellular matrix. At the same time, the LAP chain interacts with "milieu molecules" such as LTBP1 and LRRC32/GARP, which control the activation of TGF-beta-2 and keep it in a latent state during storage in extracellular milieus. Once TGF-beta-2 is activated after the release of LAP, it acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transmit the signal.

Diseases associated with TGFB2 include:

• Loeys-Dietz syndrome
• and
• familial thoracic aortic aneurysm and aortic dissection.

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