PDGFA Gene - Platelet Derived Growth Factor Subunit A
Comprehensive genomic and functional analysis of PDGFA, a key regulator of cell growth, proliferation, and angiogenesis.
Gene Information Card
| Symbol | PDGFA |
|---|---|
| Full Name | Platelet Derived Growth Factor Subunit A |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 5154 ncbi.nlm.nih.gov/gene/5154 |
| Ensembl ID | ENSG00000197461 |
| UniProt ID | P04085 |
| OMIM ID | 173430 |
| HGNC ID | 8799 |
| Aliases | PDGF-A, PDGF1, MGC161783 |
Description
PDGFA (Platelet Derived Growth Factor Subunit A) is a protein-coding gene located on chromosome 7p22.3. It encodes the A chain of platelet-derived growth factor (PDGF), a potent mitogen and chemoattractant for mesenchymal cells. PDGFA forms homodimers (PDGF-AA) or heterodimers with PDGFB (PDGF-AB), binding to PDGF receptors (PDGFRA and PDGFRB) to regulate cell growth, proliferation, survival, and angiogenesis. The gene is implicated in development, wound healing, and various diseases including cancer and fibrotic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioma | PDGFA overexpression activates PDGFRA signaling, promoting tumor cell proliferation and angiogenesis | ClinVar, COSMIC |
| Osteosarcoma | PDGFA amplification and autocrine PDGF-AA signaling contribute to tumor growth | COSMIC, NCBI Gene |
| Pulmonary fibrosis | PDGFA upregulation in alveolar macrophages and epithelial cells drives fibroblast proliferation and collagen deposition | OMIM, NCBI Gene |
| Atherosclerosis | PDGFA released from platelets and macrophages stimulates smooth muscle cell migration and intimal hyperplasia | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Placenta | 18.3 | High |
| Heart | 8.1 | Low |
| Brain | 6.4 | Low |
| Kidney | 9.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| HepG2 (hepatocellular carcinoma) | 7.8 | Moderate expression |
| MCF7 (breast adenocarcinoma) | 5.3 | Low expression |
| U-2 OS (osteosarcoma) | 22.1 | Very high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.364C>T (p.Arg122Trp) | missense | Rare | Unknown significance; reported in COSMIC |
| c.500G>A (p.Arg167Gln) | missense | Rare | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported; start codon mutations may lead to loss of function.
Gain of Function (GOF)
Amplification and overexpression of PDGFA are common in cancers, leading to increased PDGF-AA signaling and oncogenic gain of function.
Dominant Negative (DN)
No dominant-negative mutations described for PDGFA.
View complete mutation data：
Gene Ontology (GO)
Pathways
• R-HSA-186797 - PDGF signaling pathway (Reactome)
• R-HSA-9006934 - Signaling by Receptor Tyrosine Kinases (Reactome)
• KEGG:05200 - Pathways in cancer
• KEGG:05205 - Proteoglycans in cancer
• KEGG:04510 - Focal adhesion
• KEGG:04810 - Regulation of actin cytoskeleton
Protein Summary
The PDGFA gene encodes the A chain of platelet-derived growth factor (PDGF), a 211-amino-acid precursor protein (UniProt P04085). After proteolytic processing, the mature PDGF-A chain forms disulfide-linked homodimers (PDGF-AA) or heterodimers with PDGF-B (PDGF-AB). These dimers bind to PDGF receptors (PDGFRA and PDGFRB) on the cell surface, activating downstream signaling pathways such as PI3K/AKT, MAPK/ERK, and PLCγ. PDGF-AA is a potent mitogen and chemoattractant for fibroblasts, smooth muscle cells, and glial cells, playing critical roles in embryonic development, wound healing, and angiogenesis. Aberrant PDGFA expression is linked to tumorigenesis, fibrosis, and vascular diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDGFA Knockout HEK293 Cell Line | EDJ-KQ1197 | Human | 5154 | Details Get a Quote |
| PDGFA Knockout A-549 Cell Line | EDJ-KQ20498 | Human | 5154 | Details Get a Quote |
| PDGFA Knockout HCT 116 Cell Line | EDJ-KQ20499 | Human | 5154 | Details Get a Quote |
| PDGFA Knockout HeLa Cell Line | EDJ-KQ20500 | Human | 5154 | Details Get a Quote |
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