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
In other databases
- GenAge model organism genes
- A homolog of this gene for Drosophila melanogaster is present as daw
- CellAge
- This gene is present as TGFB2
- CellAge gene expression
- This gene is present as 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