TGFB3 Gene - Transforming Growth Factor Beta 3
Key regulator of embryogenesis, cell differentiation, and extracellular matrix remodeling
Gene Information Card
| Symbol | TGFB3 |
|---|---|
| Full Name | Transforming Growth Factor Beta 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 7043 ncbi.nlm.nih.gov/gene/7043 |
| Ensembl ID | ENSG00000119699 |
| UniProt ID | P10600 |
| OMIM ID | 190230 |
| HGNC ID | 11769 |
| Aliases | ARVD, ARVD1, TGF-beta3, LDS5 |
Description
The TGFB3 gene encodes transforming growth factor beta 3, a member of the TGF-beta superfamily of cytokines. This secreted protein regulates cell proliferation, differentiation, migration, and apoptosis, playing critical roles in embryogenesis (especially palate and heart development), wound healing, and extracellular matrix homeostasis. Mutations in TGFB3 are associated with Loeys-Dietz syndrome type 5 and arrhythmogenic right ventricular dysplasia 1.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Loeys-Dietz Syndrome 5 (LDS5) | Heterozygous missense or loss-of-function mutations in TGFB3 disrupt TGF-beta signaling, leading to aortic aneurysm, arterial tortuosity, and skeletal abnormalities. | OMIM #615582; ClinVar |
| Arrhythmogenic Right Ventricular Dysplasia 1 (ARVD1) | Mutations in TGFB3 alter myocardial cell adhesion and fibrofatty replacement, predisposing to ventricular arrhythmias. | OMIM #107970; ClinVar |
| Cleft Palate (non-syndromic) | TGFB3 is essential for palatal fusion; reduced expression or function contributes to orofacial clefts. | NCBI Gene; PMID: 10677320 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Placenta | 15.1 | High |
| Kidney | 6.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression in embryonic kidney cells |
| HeLa | 9.2 | Moderate expression in cervical cancer cells |
| A549 | 5.6 | Low expression in lung carcinoma cells |
| MCF7 | 3.1 | Low expression in breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.739G>A (p.Gly247Arg) | Missense | Rare | Associated with LDS5; disrupts TGFB3 dimerization and receptor binding |
| c.1120C>T (p.Arg374Ter) | Nonsense | Rare | Loss-of-function; leads to nonsense-mediated decay and haploinsufficiency in ARVD1 |
| c.821G>A (p.Arg274Gln) | Missense | Rare | Reduced TGF-beta signaling; reported in LDS5 families |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg374Ter) cause haploinsufficiency, reducing TGFB3 protein levels and impairing TGF-beta signaling.
Gain of Function (GOF)
Not well-documented for TGFB3; most pathogenic mutations are loss-of-function or dominant-negative.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly247Arg) produce defective TGFB3 that interferes with wild-type protein function, leading to reduced signaling.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG hsa04350)
• Signaling by TGF-beta family members (Reactome R-HSA-9006936)
• Regulation of epithelial-to-mesenchymal transition (WikiPathways WP3599)
Protein Summary
TGFB3 is a 412-amino-acid precursor protein that undergoes proteolytic cleavage to release the mature 112-amino-acid active form. It forms homodimers and binds to TGF-beta receptors (TGFBR1 and TGFBR2), activating SMAD2/3 transcription factors. The protein is highly conserved across vertebrates and is critical for cardiac cushion formation, palatal fusion, and wound healing. Dysregulation contributes to connective tissue disorders and arrhythmogenic cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGFB3 Knockout HEK293 Cell Line | EDJ-KQ761 | Human | 7043 | Details Get a Quote |
| TGFB3 Knockout A-549 Cell Line | EDJ-KQ19437 | Human | 7043 | Details Get a Quote |
| TGFB3 Knockout HCT 116 Cell Line | EDJ-KQ19438 | Human | 7043 | Details Get a Quote |
| TGFB3 Knockout HeLa Cell Line | EDJ-KQ19439 | Human | 7043 | Details Get a Quote |
| Tgfb3 Knockout B16-F10 Cell Line | EDJ-KZ506 | Mouse | 7043 | Details Get a Quote |
