Gene: TGFB2

Alternate names for this Gene: G-TSF|LDS4|TGF-beta2

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q41

Description of this Gene: transforming growth factor beta 2

Type of Gene: protein-coding

Gene: TGFB2-AS1

Alternate names for this Gene:

Gene Summary:

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rs1553292105 in TGFB2;TGFB2-AS1 gene and Muscle hypotonia PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

PMID 22772368 2012 Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

PMID 25163805 2014 Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

PMID 24193348 2014 A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

PMID 22772371 2012 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

PMID 26017485 2015 First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

PMID 24577266 2014 Loeys-Dietz syndrome: a primer for diagnosis and management.

rs113711540 in TGFB2;TGFB2-AS1 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.