Version: 8.0.0Date: Tue Jan 28 2025
Gene
PDGFRB
- Species
- Homo sapiens
- Symbol
- PDGFRB
- Name
- platelet derived growth factor receptor beta
- Synonyms
- Activated tyrosine kinase PDGFRB
- beta-type platelet-derived growth factor receptor
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including enzyme activator activity; growth factor binding activity; and platelet-derived growth factor beta-receptor activity. Involved in several processes, including platelet-derived growth factor receptor signaling pathway; positive regulation of intracellular signal transduction; and protein phosphorylation. Located in Golgi apparatus and plasma membrane. Implicated in basal ganglia calcification; glioblastoma; infantile myofibromatosis; myeloproliferative neoplasm (multiple); and renal cell carcinoma. Biomarker of Kuhnt-Junius degeneration; breast cancer (multiple); renal cell carcinoma; and reproductive organ cancer (multiple).
- RGD Description
- The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24416
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
Phenotype Term | Annotation details | References |
|---|---|---|
| No records match query. Try removing filters. | ||
Showing 0 - 0 of 0 rows
per page
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||
Showing 0 - 0 of 0 rows
per page
Sequence Feature Viewer
- Genome location
- Chr5:150113839...150155872 - (42.03 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.