PDGFB Gene (Platelet Derived Growth Factor Subunit B)
A key regulator of cell growth, angiogenesis, and wound healing; implicated in gliomas, dermatofibrosarcoma protuberans, and other fibrotic disorders.
Gene Information Card
| Symbol | PDGFB |
|---|---|
| Full Name | Platelet Derived Growth Factor Subunit B |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 5155 ncbi.nlm.nih.gov/gene/5155 |
| Ensembl ID | ENSG00000100311 |
| UniProt ID | P01127 |
| OMIM ID | 190040 |
| HGNC ID | 8800 |
| Aliases | PDGF2, c-sis, SIS, SSV |
Description
The PDGFB gene encodes the B chain of platelet-derived growth factor (PDGF), a potent mitogen and chemoattractant for mesenchymal cells. PDGFB forms homodimers (PDGF-BB) or heterodimers with PDGFA. It plays critical roles in embryonic development, angiogenesis, wound healing, and regulation of interstitial fluid pressure. Dysregulation of PDGFB signaling is associated with several cancers and fibrotic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dermatofibrosarcoma protuberans | COL1A1-PDGFB fusion leads to constitutive PDGFB expression and autocrine stimulation of tumor growth | COSMIC, OMIM |
| Glioblastoma | PDGFB overexpression and amplification promote tumor angiogenesis and proliferation | NCBI Gene, OMIM |
| Meningioma | PDGFB overexpression contributes to tumor cell proliferation | NCBI Gene |
| Atherosclerosis | PDGFB stimulates smooth muscle cell proliferation and migration in vascular lesions | OMIM |
| Idiopathic pulmonary fibrosis | PDGFB drives fibroblast proliferation and extracellular matrix deposition | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | High |
| Lung | 8.2 | Medium |
| Heart | 6.1 | Medium |
| Brain | 4.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 15.3 | High expression |
| A549 (lung carcinoma) | 7.8 | Medium expression |
| U87MG (glioblastoma) | 6.5 | Medium expression |
| MCF7 (breast carcinoma) | 2.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| COL1A1-PDGFB fusion | Gene fusion | Rare in general population; hallmark of dermatofibrosarcoma protuberans | Constitutive activation of PDGFB signaling |
| c.103C>T (p.Arg35*) | Nonsense | <0.01% | Loss of function; associated with rare developmental disorders |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense mutations (e.g., p.Arg35*) lead to truncated protein and loss of mitogenic activity.
Gain of Function (GOF)
COL1A1-PDGFB fusion results in constitutive PDGFB expression and autocrine loop, driving tumorigenesis.
Dominant Negative (DN)
No well-characterized dominant negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PDGF signaling pathway (Reactome: R-HSA-186797)
• MAPK signaling pathway (KEGG: hsa04010)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
PDGFB (platelet-derived growth factor subunit B) is a 241-amino acid protein that forms disulfide-linked homodimers (PDGF-BB) or heterodimers with PDGFA. It is synthesized as a precursor that undergoes proteolytic processing. The mature protein contains a conserved PDGF/VEGF homology domain. PDGFB binds to PDGF receptors (PDGFRA and PDGFRB) with high affinity, activating downstream signaling cascades including MAPK and PI3K/Akt pathways. It is a major mitogen for fibroblasts, smooth muscle cells, and glial cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDGFB Knockout HEK293 Cell Line | EDJ-KQ1198 | Human | 5155 | Details Get a Quote |
| PDGFB Knockout HeLa Cell Line | EDJ-KQ19148 | Human | 5155 | Details Get a Quote |
| PDGFB Knockout A-549 Cell Line | EDJ-KQ20501 | Human | 5155 | Details Get a Quote |
| PDGFB Knockout HCT 116 Cell Line | EDJ-KQ20502 | Human | 5155 | Details Get a Quote |
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