Gene: TGFBR3

Alternate names for this Gene: BGCAN|betaglycan

Gene Summary: This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p22.1

Description of this Gene: transforming growth factor beta receptor 3

Type of Gene: protein-coding

rs12076549 in TGFBR3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17131547 in TGFBR3 gene and Bone Density PMID 19249006 2009 Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.

rs17131547 in TGFBR3 gene and Bone Mineral Density Test PMID 19249006 2009 Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.

rs3738441 in TGFBR3 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

rs1329980 in TGFBR3 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs17887218 in TGFBR3 gene and Osteoarthritis of hip PMID 29559693 2018 Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.

rs17887218 in TGFBR3 gene and Osteoarthritis, Knee PMID 29559693 2018 Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.

rs2291477 in TGFBR3 gene and QT interval feature (observable entity) PMID 28039329 2017 A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.

rs1329980 in TGFBR3 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.