TGFB1
Chr 19ARADtransforming growth factor beta 1
Also known as: CAEND1, CED, DPD1, IBDIMDE, LAP, TGF-beta1, TGFB, TGFbeta
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. [provided by RefSeq, Aug 2016]
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The Badonyi & Marsh model scores dominant-negative highest, but genomic evidence most strongly supports loss-of-function (haploinsufficiency) as the primary mechanism.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
288 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 0 | 0 | 0 |
Likely Pathogenic | 1 | 0 | 0 | 0 | 1 |
VUS | 10 | 149 | 24 | 2 | 185 |
Likely Benign | 0 | 2 | 37 | 62 | 101 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 11 | 151 | 62 | 64 | 288 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →TGFB1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Gene2Phenotype Curations
TGFB1-related Camurati-Engelmann disease
definitiveGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Aronia and Non-alcoholic Fatty Liver Disease
NOT YET RECRUITINGNon-surgical Periodontal Treatment in Smokers on SIRT-1, NLRP3 Inflammasome and LncRNAs
NOT YET RECRUITINGButyric Acid Supplementation for Gut Improvement After Cardiac Surgery in Kids
NOT YET RECRUITINGPulmonary Immune Cell-microbiome Interactions in the Healthy Lung
RECRUITINGFontan Associated Liver Disease and the Evaluation of Biomarkers for Disease Severity Assessment
RECRUITINGHPV-16/18 E6/E7-Specific T Lymphocytes, Relapsed HPV-Associated Cancers, HESTIA
ACTIVE NOT RECRUITINGGenetically Modified T-Cells Followed by Aldesleukin in Treating Patients With Stage III-IV Melanoma
ACTIVE NOT RECRUITINGCharacterizing Matrix Metalloproteinase-12 (MMP12) in Sputum
RECRUITINGDietary Supplementation With Blueberry in OA
ACTIVE NOT RECRUITINGA-TANGO Phase 2 Study
NOT YET RECRUITINGHigher Per Daily Treatment-Dose Radiation Therapy or Standard Per Daily Treatment Radiation Therapy in Treating Patients With Early-Stage Breast Cancer That Was Removed by Surgery
ACTIVE NOT RECRUITINGAutologous/Allogeneic TGFbeta-resistant LMP-specific CTL, Lymphoma (TGF-beta)
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools