PDGFRB Gene: Structure, Function, and Clinical Significance
A comprehensive guide to the PDGFRB gene, its protein product, associated diseases, and therapeutic implications.
Gene Information Card
| Symbol | PDGFRB |
|---|---|
| Full Name | Platelet Derived Growth Factor Receptor Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 5159 ncbi.nlm.nih.gov/gene/5159 |
| Ensembl ID | ENSG00000113721 |
| UniProt ID | P09619 |
| OMIM ID | 173410 |
| HGNC ID | 8804 |
| Aliases | CD140B, IBGC4, IMF1, JTK12, PDGFR-1, PDGFR1, beta-type PDGFR |
Description
The PDGFRB gene encodes the beta-type platelet-derived growth factor receptor, a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor (PDGF) family. This receptor is involved in the regulation of cell growth, differentiation, and migration, particularly in mesenchymal cells. PDGFRB signaling plays critical roles in embryonic development, wound healing, and blood vessel formation. Mutations and chromosomal rearrangements affecting PDGFRB are associated with various malignancies and genetic disorders, making it an important target for therapeutic intervention.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic myelomonocytic leukemia (CMML) | Fusion genes (e.g., TEL-PDGFRB) result in constitutive activation of the receptor tyrosine kinase, driving uncontrolled cell proliferation. | COSMIC, ClinVar |
| Gastrointestinal stromal tumor (GIST) | Activating mutations in PDGFRB (e.g., D846V) lead to constitutive kinase activity, promoting tumor growth. | COSMIC, ClinVar |
| Dermatofibrosarcoma protuberans (DFSP) | Chromosomal translocation t(17;22) creates a COL1A1-PDGFB fusion, leading to autocrine PDGFRB activation. | COSMIC, ClinVar |
| Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) | PDGFRB rearrangements (e.g., with ETV6) cause constitutive activation, contributing to myeloid neoplasms. | COSMIC, ClinVar |
| Infantile myofibromatosis | Germline mutations in PDGFRB (e.g., R561C) cause constitutive activation, leading to benign tumors. | ClinVar, OMIM |
| Premature aging syndrome | Mutations in PDGFRB have been linked to a rare progeroid syndrome, affecting connective tissue integrity. | OMIM |
| Basal ganglia calcification (IBGC4) | Mutations in PDGFRB are associated with idiopathic basal ganglia calcification, a neurological disorder. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.1 | Low |
| Lung | 4.8 | Low |
| Liver | 1.5 | Not detected |
| Kidney | 6.3 | Low |
| Spleen | 4.0 | Low |
| Placenta | 8.9 | Medium |
| Adipose tissue | 7.5 | Medium |
| Skin | 9.2 | Medium |
| Smooth muscle | 12.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 15.3 | High expression |
| BJ (fibroblast) | 10.2 | Moderate expression |
| K-562 (chronic myelogenous leukemia) | 2.1 | Low expression |
| A549 (lung carcinoma) | 3.4 | Low expression |
| MCF7 (breast carcinoma) | 1.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| D846V | Missense | Rare in GIST | Gain-of-function; constitutive kinase activation |
| R561C | Missense | Germline in infantile myofibromatosis | Gain-of-function; constitutive activation |
| TEL-PDGFRB fusion | Chromosomal translocation | Frequent in CMML | Constitutive kinase activation |
| V561D | Missense | Rare in leukemia | Gain-of-function; constitutive activation |
| N666S | Missense | Rare in GIST | Gain-of-function; imatinib resistance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PDGFRB are rare and typically result in reduced receptor signaling, potentially affecting developmental processes. For example, some mutations in the extracellular domain may impair ligand binding, leading to decreased downstream signaling.
Gain of Function (GOF)
Gain-of-function mutations are common in cancers and include point mutations (e.g., D846V) and chromosomal rearrangements (e.g., TEL-PDGFRB) that lead to constitutive activation of the kinase domain, promoting uncontrolled cell proliferation and survival.
Dominant Negative (DN)
Dominant-negative mutations have been described in some contexts, where a mutant PDGFRB subunit dimerizes with wild-type receptors, impairing normal signaling. This is less common but can occur in certain inherited disorders.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • protein tyrosine kinase activity |
| • transmembrane receptor protein tyrosine kinase activity | • platelet-derived growth factor binding |
| • receptor signaling protein tyrosine kinase activity | • signal transduction |
| • cell surface receptor signaling pathway | • positive regulation of cell proliferation |
| • angiogenesis | • wound healing |
Pathways
• PDGF signaling pathway
• Ras signaling pathway
• PI3K-Akt signaling pathway
• MAPK/ERK signaling pathway
• JAK-STAT signaling pathway
• Focal adhesion pathway
• Cytokine-cytokine receptor interaction
Protein Summary
The PDGFRB protein is a single-pass type I membrane receptor with an extracellular region containing five immunoglobulin-like domains, a transmembrane domain, and an intracellular tyrosine kinase domain split by a kinase insert. Upon binding PDGF ligands (PDGF-B and PDGF-D), the receptor dimerizes and autophosphorylates, creating docking sites for downstream signaling molecules such as PI3K, PLCγ, and Src. This activates multiple pathways that regulate cell proliferation, survival, migration, and differentiation. PDGFRB is essential for the development of blood vessels, kidney glomeruli, and connective tissue. Aberrant activation of PDGFRB is oncogenic, and targeted inhibitors like imatinib and sunitinib are used clinically to treat PDGFRB-driven tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDGFRB Knockout HEK293 Cell Line | EDJ-KQ17677 | Human | 5159 | Details Get a Quote |
| PDGFRB Knockout HeLa Cell Line | EDJ-KQ18320 | Human | 5159 | Details Get a Quote |
| PDGFRB Knockout A-549 Cell Line | EDJ-KQ62597 | Human | 5159 | Details Get a Quote |
| PDGFRB Knockout HCT 116 Cell Line | EDJ-KQ71070 | Human | 5159 | Details Get a Quote |
| PDGFRB (p.P1084=) Point Mutation in HAP1 Cell Line | EDC03356 | Human | 5159 | Details Get a Quote |
| PDGFRB (p.L867=) Point Mutation in HAP1 Cell Line | EDC03357 | Human | 5159 | Details Get a Quote |
| PDGFRB (p.T618=) Point Mutation in HAP1 Cell Line | EDC03358 | Human | 5159 | Details Get a Quote |
| PDGFRB (p.E485K) Point Mutation in HAP1 Cell Line | EDC03359 | Human | 5159 | Details Get a Quote |
| PDGFRB (c.934+77T>C )Point Mutation in HAP1 Cell Line | EDC03360 | Human | 5159 | Details Get a Quote |
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