Version: 8.0.0Date: Tue Jan 28 2025
Gene
PDGFB
- Species
- Homo sapiens
- Symbol
- PDGFB
- Name
- platelet derived growth factor subunit B
- Synonyms
- becaplermin
- c-sis
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including platelet-derived growth factor binding activity; protein dimerization activity; and receptor ligand activity. Involved in several processes, including positive regulation of cell migration; positive regulation of cell population proliferation; and regulation of macromolecule metabolic process. Located in cell surface. Part of platelet-derived growth factor complex. Implicated in several diseases, including basal ganglia calcification; clear cell renal cell carcinoma; dermatofibrosarcoma protuberans; familial meningioma; and high grade glioma (multiple). Biomarker of several diseases, including Kuhnt-Junius degeneration; clear cell renal cell carcinoma; diabetic retinopathy (multiple); graft-versus-host disease; and reproductive organ cancer (multiple).
- RGD Description
- This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11633
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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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 |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr22:39223359...39244982 - (21.62 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.