HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TGFB1
transforming growth factor beta 1
Chromosome 19 · 19q13.2
NCBI Gene: 7040Ensembl: ENSG00000105329.11HGNC: HGNC:11766UniProt: A0A499FJK2
5,005PubMed Papers
22Diseases
5Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedLandmark GeneTrending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of blood vessel endothelial cell migrationtransforming growth factor beta receptor signaling pathwaypositive regulation of MAPK cascadepositive regulation of blood vessel endothelial cell migrationCamurati-Engelmann diseaseinflammatory bowel disease, immunodeficiency, and encephalopathymyelodysplastic syndromecancer
✦AI Summary

TGFB1 is a multifunctional cytokine regulating cell growth, differentiation, and immune function across diverse tissues. Functionally, TGFB1 is secreted as an inactive complex bound to latency-associated peptide (LAP) and activation-regulating molecules (LTBP1, LRRC32, LRRC33). Integrins (αVβ6 and αVβ8) release active TGFB1 by distorting the LAP structure, enabling binding to TGF-β receptors (TGFBR1/2) and SMAD2/3 phosphorylation-mediated signaling. TGFB1 exhibits pleiotropic effects: it promotes osteoblastic bone formation, drives intestinal epithelial regeneration through fetal reprogramming via YAP/TEAD and SOX9 activation, and induces epithelial-to-mesenchymal transition (EMT) in mammary epithelial cells through context-dependent SMAD3 signaling 12. TGFB1 also regulates immune responses, promoting either regulatory T cells (high concentrations) or Th17 cells (low concentrations with IL-6/IL-21) [UniProt]. Mechanistically, TGFB1 activates miR-9-dependent G-quadruplex formation and enhancer-promoter chr19 looping during transcriptional activation 3. Clinically, TGFB1 dysregulation associates with osteoarthritis (via enhancer SNP rs75621460), pulmonary arterial hypertension (through BMP/TGF-β pathway disruption), colorectal cancer progression, and prostate cancer risk (overexpression linked to increased PCa development) 4567. Regulatory SNPs in TGFB1 (rs1800469) significantly increase cervical cancer risk 8.

Sources cited
1
TGFB1 induces fetal-like transcriptional reprogramming during intestinal regeneration via YAP/TEAD and SOX9 activation
PMID: 37865088
2
miR-9 mediates G-quadruplex formation and promoter-super-enhancer looping during TGFB1-induced transcription
PMID: 39706840
3
TGFB1 induces EMT in mammary epithelial cells through SMAD3-dependent signaling and reduces cell proliferation
PMID: 39468555
4
Osteoarthritis risk SNP rs75621460 downstream of TGFB1 alters enhancer function and TGFB1 expression in cartilage
PMID: 33760378
5
TGFB1 silencing downregulates BMPR2 and affects BMP9/BMP10 expression in pulmonary microvascular endothelial cells
PMID: 41159679
6
TGFB1 gene expression correlates with TNM classification and prognosis in colorectal cancer patients
PMID: 35798776
7
TGFB1 overexpression in peripheral blood significantly associated with increased prostate cancer risk
PMID: 38415559
8
TGFB1 regulatory SNP rs1800469 significantly associated with increased cervical cancer risk in meta-analysis
PMID: 35810505
Disease Associationsⓘ22
Camurati-Engelmann diseaseOpen Targets
0.80Strong
inflammatory bowel disease, immunodeficiency, and encephalopathyOpen Targets
0.71Strong
myelodysplastic syndromeOpen Targets
0.58Moderate
cancerOpen Targets
0.53Moderate
anemiaOpen Targets
0.53Moderate
Beta-thalassemiaOpen Targets
0.49Moderate
anemia (phenotype)Open Targets
0.48Moderate
coronary artery diseaseOpen Targets
0.46Moderate
EncephalopathyOpen Targets
0.46Moderate
IL10-related early-onset inflammatory bowel diseaseOpen Targets
0.45Moderate
cystic fibrosisOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.41Moderate
ThalassemiaOpen Targets
0.40Moderate
influenzaOpen Targets
0.39Weak
coronary atherosclerosisOpen Targets
0.38Weak
HematuriaOpen Targets
0.38Weak
myocardial infarctionOpen Targets
0.37Weak
cardiovascular diseaseOpen Targets
0.37Weak
heart diseaseOpen Targets
0.36Weak
non-small cell lung carcinomaOpen Targets
0.32Weak
Camurati-Engelmann diseaseUniProt
Inflammatory bowel disease, immunodeficiency, and encephalopathyUniProt
Pathogenic Variants11
NM_000660.7(TGFB1):c.653G>A (p.Arg218His)Pathogenic
Diaphyseal dysplasia|not provided|Inborn genetic diseases|Camurati-Engelmann disease type 1
★★☆☆2025→ Residue 218
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys)Pathogenic
Diaphyseal dysplasia|not provided|See cases|Camurati-Engelmann disease type 1
★★☆☆2025→ Residue 218
NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys)Likely pathogenic
Diaphyseal dysplasia
★★☆☆2020→ Residue 171
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)Likely pathogenic
Encephalopathy;IL10-related early-onset inflammatory bowel disease|Inflammatory bowel disease, immunodeficiency, and encephalopathy
★☆☆☆2019→ Residue 387
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)Likely pathogenic
Encephalopathy;IL10-related early-onset inflammatory bowel disease|Inflammatory bowel disease, immunodeficiency, and encephalopathy
★☆☆☆2019→ Residue 45
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)Likely pathogenic
Inflammatory bowel disease, immunodeficiency, and encephalopathy|Encephalopathy;IL10-related early-onset inflammatory bowel disease
★☆☆☆2019→ Residue 110
NM_000660.7(TGFB1):c.897C>G (p.Tyr299Ter)Likely pathogenic
not provided
★☆☆☆2016→ Residue 299
NM_000660.7(TGFB1):c.571_577del (p.Asp191fs)Likely pathogenic
Inflammatory bowel disease, immunodeficiency, and encephalopathy
★☆☆☆→ Residue 191
NM_000660.7(TGFB1):c.667T>C (p.Cys223Arg)Pathogenic
Diaphyseal dysplasia
☆☆☆☆2004→ Residue 223
NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg)Pathogenic
Diaphyseal dysplasia
☆☆☆☆2001→ Residue 225
NM_000660.7(TGFB1):c.241T>C (p.Tyr81His)Pathogenic
Diaphyseal dysplasia
☆☆☆☆2000→ Residue 81
View on ClinVar ↗
Drug Targets5
BINTRAFUSP ALFAPhase III
Programmed cell death 1 ligand 1 binding agent
non-small cell lung carcinoma
FRESOLIMUMABPhase II
Transforming growth factor beta-1 inhibitor
brain cancer
LUSPATERCEPTApproved
Transforming growth factor beta inhibitor
anemia
LY-2382770Phase II
Transforming growth factor beta-1 inhibitor
diabetic nephropathy
METELIMUMABPhase I/II
Transforming growth factor beta-1 inhibitor
scleroderma
Related Genes
ACANProtein interaction100%BGNProtein interaction100%COL1A2Protein interaction100%COL3A1Protein interaction100%CCN2Protein interaction100%DCNProtein interaction100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
43%
Ovary
17%
Heart
15%
Liver
15%
Brain
9%
Gene Interaction Network
Click a node to explore
TGFB1ACANBGNCOL1A2COL3A1CCN2DCN
PROTEIN STRUCTURE
Preparing viewer…
PDB8UDZ · 2.21 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.46 [0.32–0.68]
RankingsWhere TGFB1 stands among ~20K protein-coding genes
  • #7of 20,598
    Most Researched5,005 · top 1%
  • #706of 1,025
    FDA-Approved Drug Targets1
  • #2,721of 5,498
    Most Pathogenic Variants11
  • #5,080of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedTGFB1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
TGFB1 induces fetal reprogramming and enhances intestinal regeneration.
PMID: 37865088
Cell Stem Cell · 2023
1.00
2
Nuclear microRNA 9 mediates G-quadruplex formation and 3D genome organization during TGF-β-induced transcription.
PMID: 39706840
Nat Commun · 2024
0.90
3
TGFB1/SMAD3-driven macrophage-myofibroblast transition promotes fibrosis progression in endometriosis.
PMID: 41056423
Mol Hum Reprod · 2025
0.86
4
Transcriptional responses to direct and indirect TGFB1 stimulation in cancerous and noncancerous mammary epithelial cells.
PMID: 39468555
Cell Commun Signal · 2024
0.80
5
Comprehensive characterization of TGFB1 across hematological malignancies.
PMID: 37925591
Sci Rep · 2023
0.80