LongevityMap variant

Entry Details

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
Identifier
1249-1250InsACAA/Non-Ins
Cytogenetic Location
1q41
UCSC Genome Browser
View 1q41 on the UCSC genome browser

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]
OMIM
190220
Ensembl
ENSG00000092969
UniProt/Swiss-Prot
Q59EG9_HUMAN
Entrez Gene
7042
UniGene
133379
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tgfb2
Mus musculus
Tgfb2
Rattus norvegicus
Tgfb2

References

Nuzzo et al. (2006)

Other variants which are also part of this study