LongevityMap Gene

Gene details

HGNC symbol
TGFB2 
Aliases
LDS4; G-TSF; TGF-beta2 
Common name
transforming growth factor beta 2 
Description
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]
Cytogenetic Location
1q41
UCSC Genome Browser
View 1q41 on the UCSC genome browser
OMIM
190220
Ensembl
ENSG00000092969
UniProt/Swiss-Prot
Q59EG9_HUMAN
Entrez Gene
7042
UniGene
133379
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
tgfb2
Mus musculus
Tgfb2
Rattus norvegicus
Tgfb2

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Italian (Sicily)
Study Design
The 1249-1250InsACAA/Non-Ins polymorphism distribution was examined in 88 celiac disease patients, 99 age- and sex-matched controls, and 28 95-year-old healthy subjects
Conclusions
No significant differences relative to longevity were found
Indentifier
1249-1250InsACAA/Non-Ins
Reference