Gene: TGFB2-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1553292145 in TGFB2-AS1;TGFB2 gene and Holt-Oram syndrome PMID 22772368 2012 Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

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

rs6658835 in TGFB2-AS1;TGFB2 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.