PDGFB
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:190040 Ensembl IDEnsembl:ENSG00000100311 HGNC IDHGNC:HGNC:8800 PHARMGKB IDPA33145 Map Location22q13.1 | |||||
GO terms in PDGFB
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0000139 | Golgi membrane |
| CC | NAS | GO:0005576 | extracellular region |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IBA | GO:0005615 | extracellular space |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
Gene expression in normal tissue: PDGFB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PDGFB
Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | dbpbpathway | transcriptional activation of dbpb from mrna |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-114608 | Platelet degranulation |
| reactome | R-HSA-1257604 | PIP3 activates AKT signaling |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-162582 | Signal Transduction |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PDGFB
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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