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

rs181424343 in TGFB2 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs10482795 in TGFB2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs4846476 in TGFB2 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs4846480 in TGFB2 gene and Chronic Obstructive Airway Disease PMID 24621683 2014 Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.

rs35981664 in TGFB2 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs10482792 in TGFB2 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs6684205 in TGFB2 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs1553303161 in 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.

PMID 26854089 2016 Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

PMID 23102774 2013 Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

rs387907278 in TGFB2 gene and LOEYS-DIETZ SYNDROME 4 PMID 22772371 2012 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

PMID 22772368 2012 Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

rs10482795 in TGFB2 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs12048049 in TGFB2 gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs12048049 in TGFB2 gene and Smoking Behaviors PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs12088448 in TGFB2 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs17047703 in TGFB2 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

rs10482792 in TGFB2 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.