TGFB2

Also known as TGF-beta2, transforming growth factor beta 2, G-TSF

protein-coding gene in the species Homo sapiens

Gene data

TGFB2

Name: transforming growth factor beta 2
Type: protein-coding
Position: 218,345,336–218,444,619 (+)
Aliases: CAEND2, G-TSF, LDS4, TGF-beta2
Ensembl: ENSG00000092969
RefSeq RNA: NM_001135599.4, NM_003238.6, NR_138148.2, NR_138149.2
RefSeq protein: NP_001129071.1, NP_003229.1

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. [provided by RefSeq, Aug 2016].