Gene: TGFB1

Alternate names for this Gene: CED|DPD1|IBDIMDE|LAP|TGF-beta1|TGFB|TGFbeta

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 TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: transforming growth factor beta 1

Type of Gene: protein-coding

rs1800470 in TGFB1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs2241716 in TGFB1 gene and Colorectal Carcinoma PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

rs12980942 in TGFB1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

PMID 28714974 2017 Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.

PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for coronary artery disease.

rs75621460 in TGFB1 gene and Degenerative polyarthritis PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs11466334 in TGFB1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 31049640 2019 Genome-wide association study of type 2 diabetes in Africa.

rs1336387628 in TGFB1 gene and INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY PMID 29483653 2018 Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.

rs4803455 in TGFB1 gene and Migraine Disorders PMID 23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.

rs75621460 in TGFB1 gene and Osteoarthritis of hip PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs75621460 in TGFB1 gene and Osteoarthritis, Knee PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs11466328 in TGFB1 gene and Premature Birth PMID 28877031 2017 Genetic Associations with Gestational Duration and Spontaneous Preterm Birth.