TGFB2 Gene - Transforming Growth Factor Beta 2
Key regulator of cell growth, differentiation, and extracellular matrix production
Gene Information Card
| Symbol | TGFB2 |
|---|---|
| Full Name | Transforming Growth Factor Beta 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 7042 ncbi.nlm.nih.gov/gene/7042 |
| Ensembl ID | ENSG00000192969 |
| UniProt ID | P61812 |
| OMIM ID | 190220 |
| HGNC ID | 11768 |
| Aliases | TGF-beta2, LDS4, MFS4, G-TSF, BSC-1 cell growth inhibitor |
Description
The TGFB2 gene encodes transforming growth factor beta 2, a member of the TGF-β superfamily of cytokines. This secreted protein regulates cell proliferation, differentiation, migration, and apoptosis. It plays critical roles in embryonic development, wound healing, immune regulation, and extracellular matrix remodeling. Mutations in TGFB2 are associated with Loeys-Dietz syndrome type 4 and Marfan syndrome-like features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Loeys-Dietz syndrome 4 (LDS4) | Loss-of-function mutations in TGFB2 disrupt TGF-β signaling, leading to aortic aneurysms, arterial tortuosity, and skeletal abnormalities. | ClinVar, OMIM |
| Marfan syndrome-like features | Heterozygous TGFB2 mutations cause aortic root dilation and skeletal manifestations overlapping with Marfan syndrome. | OMIM, NCBI |
| Cleft palate | TGFB2 deficiency impairs palatal fusion during development, contributing to orofacial clefts. | OMIM, PubMed |
| Coronary artery disease | TGFB2 polymorphisms are associated with altered TGF-β signaling and increased risk of atherosclerosis. | NCBI, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.1 | Low |
| Placenta | 15.2 | Medium |
| Adipose tissue | 9.8 | Low |
| Skeletal muscle | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| A549 | 7.8 | Lung carcinoma cell line |
| HepG2 | 5.4 | Hepatocellular carcinoma cell line |
| MCF7 | 6.9 | Breast cancer cell line |
| K562 | 3.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.739C>T (p.Arg247*) | Nonsense | Rare | Loss of function; associated with LDS4 |
| c.1070G>A (p.Arg357His) | Missense | Rare | Impaired TGF-β signaling; Marfan-like phenotype |
| c.1240_1241del (p.Leu414fs) | Frameshift | Rare | Premature truncation; aortic aneurysm |
| c.832C>T (p.Arg278Cys) | Missense | Rare | Reduced ligand secretion; LDS4 |
Mutation functional classification
Loss of Function (LOF)
Most TGFB2 mutations are loss-of-function, reducing protein secretion or signaling activity, leading to haploinsufficiency and altered TGF-β pathway regulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TGFB2.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with dimerization or receptor binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Signaling pathways regulating pluripotency of stem cells (KEGG: hsa04550)
• Hippo signaling pathway (KEGG: hsa04390)
• AGE-RAGE signaling pathway in diabetic complications (KEGG: hsa04933)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
Protein Summary
TGFB2 is a 414-amino-acid secreted protein that forms homodimers and binds to TGF-β receptors (TGFBR1 and TGFBR2) to activate SMAD-dependent and SMAD-independent signaling. It is synthesized as a precursor with a signal peptide and a latency-associated peptide (LAP) that remains non-covalently associated with the mature cytokine. Proteolytic cleavage by furin or other convertases releases the active TGFB2 dimer. The protein is highly conserved across species and is essential for cardiac, craniofacial, and skeletal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGFB2 Knockout HEK293 Cell Line | EDJ-KQ17771 | Human | 7042 | Details Get a Quote |
| TGFB2 Knockout A-549 Cell Line | EDJ-KQ19847 | Human | 7042 | Details Get a Quote |
| TGFB2 Knockout HeLa Cell Line | EDJ-KQ19848 | Human | 7042 | Details Get a Quote |
| TGFB2 Knockout HCT 116 Cell Line | EDJ-KQ71602 | Human | 7042 | Details Get a Quote |
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