TGFBR3 (Betaglycan) Gene
Transforming Growth Factor Beta Receptor 3: A Coreceptor in TGF-β Signaling
Gene Information Card
| Symbol | TGFBR3 |
|---|---|
| Full Name | Transforming Growth Factor Beta Receptor 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p22.1 |
| NCBI Gene ID | 7049 ncbi.nlm.nih.gov/gene/7049 |
| Ensembl ID | ENSG00000069702 |
| UniProt ID | Q03167 |
| OMIM ID | 600742 |
| HGNC ID | 11774 |
| Aliases | betaglycan, BGCAN, TGF-beta receptor type III |
Description
TGFBR3 encodes betaglycan, a membrane-anchored proteoglycan that functions as a coreceptor for transforming growth factor beta (TGF-β) superfamily ligands. It presents TGF-β to the type II receptor, enhancing signaling. Betaglycan also exists in soluble form and modulates ligand availability. The gene is widely expressed and plays roles in cell growth, differentiation, and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Loeys-Dietz syndrome 5 | Loss-of-function mutations in TGFBR3 impair TGF-β signaling, leading to aortic aneurysm and connective tissue abnormalities. | ClinVar; OMIM #615582 |
| Hereditary hemorrhagic telangiectasia (HHT) | TGFBR3 variants disrupt endothelial TGF-β signaling, contributing to vascular malformations. | ClinVar; PMID: 30523342 |
| Cancer (various) | Reduced TGFBR3 expression or somatic mutations alter TGF-β tumor suppression, promoting invasion and metastasis. | COSMIC; PMID: 21575862 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Lung | 9.8 | Medium |
| Kidney | 8.5 | Medium |
| Liver | 4.2 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 7.6 | Moderate |
| A549 (lung carcinoma) | 5.4 | Reduced vs normal lung |
| MCF7 (breast cancer) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1573C>T (p.Arg525*) | Nonsense | <0.01% | Loss of function; associated with Loeys-Dietz syndrome |
| c.2146G>A (p.Gly716Ser) | Missense | <0.01% | Impaired ligand binding; reported in HHT |
| c.1234_1235del (p.Leu412fs) | Frameshift | <0.01% | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that reduce or abolish betaglycan expression or ligand-binding capacity.
Gain of Function (GOF)
Not well documented; no recurrent activating mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
Missense mutations that produce a defective coreceptor capable of interfering with wild-type TGFBR3 function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Regulation of epithelial-to-mesenchymal transition (EMT)
• Endoglin/TGFBR3 coreceptor complex in angiogenesis
Protein Summary
Betaglycan (TGFBR3) is a 849-amino-acid transmembrane proteoglycan with a large extracellular domain containing heparan sulfate and chondroitin sulfate chains. It binds TGF-β isoforms (TGFB1, TGFB2, TGFB3) with high affinity and presents them to TGFBR2, thereby modulating downstream SMAD signaling. The protein also undergoes ectodomain shedding to generate soluble betaglycan, which can sequester TGF-β. Betaglycan is critical for cardiovascular development, immune homeostasis, and tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGFBR3 Knockout HEK293 Cell Line | EDJ-KQ2915 | Human | 7049 | Details Get a Quote |
| TGFBR3L Knockout HEK293 Cell Line | EDJ-KQ14938 | Human | 100507588 | Details Get a Quote |
| TGFBR3 Knockout A-549 Cell Line | EDJ-KQ24006 | Human | 7049 | Details Get a Quote |
| TGFBR3 Knockout HCT 116 Cell Line | EDJ-KQ24007 | Human | 7049 | Details Get a Quote |
| TGFBR3 Knockout HeLa Cell Line | EDJ-KQ24008 | Human | 7049 | Details Get a Quote |
| TGFBR3L Knockout HCT 116 Cell Line | EDJ-KQ46622 | Human | 100507588 | Details Get a Quote |
| TGFBR3L Knockout HeLa Cell Line | EDJ-KQ46623 | Human | 100507588 | Details Get a Quote |
| TGFBR3L Knockout A-549 Cell Line | EDJ-KQ69401 | Human | 100507588 | Details Get a Quote |
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