PDGFC (Platelet Derived Growth Factor C)
A member of the PDGF family involved in cell growth, angiogenesis, and tissue repair, with implications in cancer and fibrosis.
Gene Information Card
| Symbol | PDGFC |
|---|---|
| Full Name | Platelet Derived Growth Factor C |
| Gene Type | protein-coding |
| Chromosomal Location | 4q32.1 |
| NCBI Gene ID | 56034 ncbi.nlm.nih.gov/gene/56034 |
| Ensembl ID | ENSG00000138678 |
| UniProt ID | Q9NRA1 |
| OMIM ID | 608452 |
| HGNC ID | 8801 |
| Aliases | PDGF-C, SCDGF, VEGF-E |
Description
PDGFC encodes platelet-derived growth factor C, a member of the PDGF family. The protein is a ligand for PDGF receptors (PDGFRA and PDGFRB) and plays a key role in cell proliferation, migration, angiogenesis, and wound healing. It is synthesized as a latent precursor requiring proteolytic activation. Dysregulation of PDGFC is implicated in various cancers, fibrotic diseases, and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or amplification of PDGFC promotes tumor growth and angiogenesis via autocrine/paracrine PDGFR signaling. | COSMIC; PMID: 19029981 |
| Idiopathic Pulmonary Fibrosis | Increased PDGFC expression in lung fibroblasts drives fibrosis through PDGFRA activation. | PMID: 21532029 |
| Systemic Sclerosis | PDGFC contributes to dermal fibrosis via enhanced fibroblast proliferation and collagen deposition. | PMID: 22158541 |
| Glioma | PDGFC overexpression correlates with tumor grade and poor prognosis, activating PDGFRA signaling. | PMID: 15696212 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.2 | Low |
| Lung | 8.7 | Medium |
| Liver | 3.1 | Low |
| Kidney | 6.4 | Medium |
| Placenta | 12.3 | High |
| Skeletal Muscle | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Embryonic kidney cells; moderate expression |
| A549 | 7.1 | Lung carcinoma; elevated expression |
| HepG2 | 3.2 | Hepatocellular carcinoma; low expression |
| MCF7 | 6.8 | Breast cancer; moderate expression |
| U87MG | 9.3 | Glioblastoma; high expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.125G>A (p.Arg42His) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
| Amplification | Copy number gain | Variable | Observed in glioblastoma and other cancers; gain of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg163Trp) may impair ligand-receptor binding or activation.
Gain of Function (GOF)
Gene amplification or overexpression leads to increased PDGFR signaling, promoting tumorigenesis.
Dominant Negative (DN)
Not reported for PDGFC.
View complete mutation data:
Gene Ontology (GO)
Pathways
• PDGF signaling pathway (Reactome: R-HSA-186797)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• RAS signaling pathway (KEGG: hsa04014)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
PDGFC is a secreted growth factor composed of a CUB domain and a PDGF/VEGF homology domain. It is proteolytically cleaved to release the active growth factor domain, which binds to PDGFRA and PDGFRB receptors, activating downstream signaling cascades (e.g., MAPK, PI3K/Akt). The protein is involved in embryonic development, wound healing, and angiogenesis. Aberrant PDGFC signaling is linked to fibrosis and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDGFC Knockout HEK293 Cell Line | EDJ-KQ1199 | Human | 56034 | Details Get a Quote |
| PDGFC Knockout A-549 Cell Line | EDJ-KQ20504 | Human | 56034 | Details Get a Quote |
| PDGFC Knockout HCT 116 Cell Line | EDJ-KQ20505 | Human | 56034 | Details Get a Quote |
| PDGFC Knockout HeLa Cell Line | EDJ-KQ20506 | Human | 56034 | Details Get a Quote |
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