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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TGFBR1
transforming growth factor beta receptor 1
Chromosome 9 · 9q22.33
NCBI Gene: 7046Ensembl: ENSG00000106799.15HGNC: HGNC:11772UniProt: B4DXN7
612PubMed Papers
22Diseases
2Drugs
111Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinaseReceptor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
SMAD bindingpositive regulation of extracellular matrix assemblyI-SMAD bindingmyofibroblast differentiationLoeys-Dietz syndrome 1multiple self-healing squamous epitheliomaLoeys-Dietz syndromefamilial thoracic aortic aneurysm and aortic dissection
✦AI Summary

TGFBR1 is a transmembrane serine/threonine kinase that functions as the type I receptor for TGF-β cytokines (TGFB1, TGFB2, TGFB3) 1. It forms a heterotetrameric receptor complex with TGFBR2, which activates canonical SMAD-dependent signaling through phosphorylation of SMAD2, leading to translocation of SMAD2-SMAD4 complexes to the nucleus to modulate gene transcription 1. TGFBR1 also engages non-canonical pathways, including TRAF6-mediated apoptosis and epithelial-to-mesenchymal transition through PARD6A phosphorylation 1. TGFBR1 mutations cause Loeys-Dietz syndrome, an autosomal dominant aortic aneurysm disorder characterized by arterial tortuosity, hypertelorism, and bifid uvula/cleft palate, with aggressive vascular disease and early mortality (mean age 26 years) 2. Paradoxically, patient tissues show increased TGF-β signaling despite loss-of-function mutations 34, suggesting compensatory mechanisms. TGFBR1 mutations also perturb craniofacial, neurocognitive and skeletal development 3. TGFBR1 haploinsufficiency associates with cancer susceptibility; the *6A polymorphism (9-bp deletion in exon 1) reduces TGF-β signaling capability and increases colorectal and breast cancer risk 56. Recent evidence shows NPC1 stabilizes TGFBR1 through preventing SMAD7/SMURF-mediated ubiquitylation, promoting hepatocellular carcinoma progression 7. Conversely, renal fibrosis studies demonstrate that Nrp1/TGFBR1 dual deletion better ameliorates injury than single knockouts 8.

Sources cited
1
TGFBR1 is a transmembrane serine/threonine kinase that functions as the type I receptor for TGF-β cytokines (TGFB1, TGFB2, TGFB3) .
PMID: 33914044
2
TGFBR1 mutations cause Loeys-Dietz syndrome, an autosomal dominant aortic aneurysm disorder characterized by arterial tortuosity, hypertelorism, and bifid uvula/cleft palate, with aggressive vascular disease and early mortality (mean age 26 years) .
PMID: 16928994
3
Paradoxically, patient tissues show increased TGF-β signaling despite loss-of-function mutations , , suggesting compensatory mechanisms.
PMID: 15731757
4
Recent evidence shows NPC1 stabilizes TGFBR1 through preventing SMAD7/SMURF-mediated ubiquitylation, promoting hepatocellular carcinoma progression .
PMID: 39762312
5
Conversely, renal fibrosis studies demonstrate that Nrp1/TGFBR1 dual deletion better ameliorates injury than single knockouts .
PMID: 38977708
Disease Associationsⓘ22
Loeys-Dietz syndrome 1Open Targets
0.83Strong
multiple self-healing squamous epitheliomaOpen Targets
0.76Strong
Loeys-Dietz syndromeOpen Targets
0.75Strong
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.67Moderate
Rare disease with thoracic aortic aneurysm and aortic dissectionOpen Targets
0.57Moderate
cancerOpen Targets
0.55Moderate
Alzheimer diseaseOpen Targets
0.48Moderate
Parkinson diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
lysosomal storage diseaseOpen Targets
0.45Moderate
age-related macular degenerationOpen Targets
0.45Moderate
Abnormality of the cardiovascular systemOpen Targets
0.44Moderate
asthmaOpen Targets
0.44Moderate
Marfan syndromeOpen Targets
0.43Moderate
COVID-19Open Targets
0.42Moderate
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.41Moderate
myopiaOpen Targets
0.39Weak
Marfan syndrome type 2Open Targets
0.38Weak
respiratory system diseaseOpen Targets
0.38Weak
Loeys-Dietz syndrome 1UniProt
Multiple self-healing squamous epitheliomaUniProt
Pathogenic Variants111
NM_004612.4(TGFBR1):c.1126A>G (p.Lys376Glu)Pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2026→ Residue 376
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)Pathogenic
Loeys-Dietz syndrome 1|not provided|Familial thoracic aortic aneurysm and aortic dissection;Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|TGFBR1-related disorder
★★☆☆2026→ Residue 487
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)Pathogenic
not provided|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1|Familial aortopathy|Loeys-Dietz syndrome 1;Multiple self-healing squamous epithelioma
★★☆☆2025→ Residue 312
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)Pathogenic
Loeys-Dietz syndrome 1|not provided|Familial thoracic aortic aneurysm and aortic dissection;Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Multiple self-healing squamous epithelioma;Loeys-Dietz syndrome 1|Loeys-Dietz syndrome
★★☆☆2025→ Residue 487
NM_004612.4(TGFBR1):c.974-1G>APathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|not provided
★★☆☆2025→ Residue 227
NM_004612.4(TGFBR1):c.673C>G (p.Arg225Gly)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1
★★☆☆2025→ Residue 225
NM_004612.4(TGFBR1):c.238C>T (p.Arg80Ter)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 80
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del)Pathogenic
not provided|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 228
NM_004612.4(TGFBR1):c.944A>G (p.His315Arg)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|not provided
★★☆☆2025→ Residue 315
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)Pathogenic
Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
★★☆☆2024→ Residue 253
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)Pathogenic
Loeys-Dietz syndrome 1|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|not provided|Cardiovascular phenotype|Marfan syndrome;Loeys-Dietz syndrome 1|Multiple self-healing squamous epithelioma;Loeys-Dietz syndrome 1
★★☆☆2024→ Residue 241
NM_004612.4(TGFBR1):c.973+1G>ALikely pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome
★★☆☆2024
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2024→ Residue 486
NM_004612.4(TGFBR1):c.791CAG[1] (p.Ala265del)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1;Multiple self-healing squamous epithelioma
★★☆☆2024→ Residue 265
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)Pathogenic
Loeys-Dietz syndrome 1
★★☆☆2023→ Residue 214
NM_004612.4(TGFBR1):c.1063G>A (p.Ala355Thr)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2023→ Residue 355
NM_004612.4(TGFBR1):c.943C>T (p.His315Tyr)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1
★★☆☆2023→ Residue 315
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn)Likely pathogenic
Loeys-Dietz syndrome 1|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2022→ Residue 400
NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Familial aortopathy
★★☆☆2021→ Residue 234
View on ClinVar ↗
Drug Targets2
GALUNISERTIBPhase II/III
TGF-beta receptor type I inhibitor
arteriosclerosis
VACTOSERTIBPhase II
TGF-beta receptor type I inhibitor
myeloproliferative disorder
Related Genes
ACVR2BProtein interaction100%ALKProtein interaction100%BMPR2Protein interaction100%COL3A1Protein interaction100%CCN2Protein interaction100%DAB2Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
84%
Bone Marrow
83%
Heart
48%
Ovary
45%
Liver
39%
Gene Interaction Network
Click a node to explore
TGFBR1ACVR2BALKBMPR2COL3A1CCN2DAB2
PROTEIN STRUCTURE
Preparing viewer…
PDB9J9D · 1.34 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.51Moderately Constrained
pLIⓘ
0.96Intolerant
Observed/Expected LoF0.35 [0.24–0.51]
RankingsWhere TGFBR1 stands among ~20K protein-coding genes
  • #381of 20,598
    Most Researched612 · top 5%
  • #704of 5,498
    Most Pathogenic Variants111 · top quartile
  • #3,094of 17,882
    Most Constrained (LOEUF)0.51 · top quartile
Genes detectedTGFBR1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
The Molecular Genetics of Marfan Syndrome.
PMID: 34220303
Int J Med Sci · 2021
1.00
2
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
PMID: 16928994
N Engl J Med · 2006
0.90
3
Associations of TGFBR1 and TGFBR2 gene polymorphisms with the risk of hypospadias: a case-control study in a Chinese population.
PMID: 28894026
Biosci Rep · 2017
0.82
4
Targeting the transmembrane cytokine co-receptor neuropilin-1 in distal tubules improves renal injury and fibrosis.
PMID: 38977708
Nat Commun · 2024
0.80
5
Arterial tortuosity in genetic arteriopathies.
PMID: 26398550
Curr Opin Cardiol · 2015
0.80