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.
TGFB2 gene
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General informationThis section has been translated automatically.
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.
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Diseases associated with TGFB2 include:
- Loeys-Dietz syndrome
- and
- familial thoracic aortic aneurysm and aortic dissection.
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- DiLorenzo MP et al. (2023) Myocardial Fibrosis in Congenital Heart Disease and the Role of MRI. Radiol Cardiothorac Imaging 5:e220255.
- Karur GR et al. (2018) Diffuse Myocardial Fibrosis in Children and Adolescents With Marfan Syndrome and Loeys-Dietz Syndrome. J Am Coll Cardiol 72:2279-2281.
- Messer N et al. (2024) Outcomes of complex abdominal wall reconstruction in patients with connective tissue disorders: a single center experience. Hernia. DOI: 10.1007/s10029-023-02957-y
- Velchev JD et al (2021) Loeys-Dietz syndrome. Adv Exp Med Biol 1348:251-264.
- Yap WF et al. (2020) Co-existence of Marfan syndrome and systemic sclerosis: A case report and a hypothesis suggesting a common link. Int J Rheum Dis 23:1568-1573.