PDGFRB

Also known as CD140B, IBGC4, IMF1, JTK12, PDGFR, PDGFR-1, PDGFR1, KOGS

Platelet-derived growth factor receptor beta is a protein that in humans is encoded by the PDGFRB gene. Mutations in PDGFRB are mainly associated with the clonal eosinophilia class of malignancies.

Gene data

PDGFRB

Name: platelet derived growth factor receptor beta
Type: protein-coding
Position: 150,113,839–150,158,260 (−)
Aliases: CD140B, IBGC4, IMF1, JTK12, KOGS, OPDKD, PDGFR, PDGFR-1, PDGFR1, PENTT
Ensembl: ENSG00000113721
RefSeq RNA: NM_001355016.2, NM_001355017.2, NM_002609.4, NR_149150.2
RefSeq protein: NP_001341945.1, NP_001341946.1, NP_002600.1

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].

Gene Ontology

Article

16 sections

Contents

Gene
Structure
Modes of activation
Role in physiology/pathology
PDGFRB mutations
5q- Syndrome
''PDGFRB'' Translocations
''PDGFRB''-''ETV6'' translocations
Other ''PDGFRB'' translocations
Primary familial brain calcification
Interactions
Notes
See also
References
Further reading
External links

Platelet-derived growth factor receptor beta is a protein that in humans is encoded by the PDGFRB gene. Mutations in PDGFRB are mainly associated with the clonal eosinophilia class of malignancies.

== Gene == The PDGFRB gene is located on human chromosome 5 at position q32 (designated as 5q32) and contains 25 exons. The gene is flanked by the genes for granulocyte-macrophage colony-stimulating factor and Colony stimulating factor 1 receptor (also termed macrophage-colony stimulating factor receptor), all three of which may be lost together by a single deletional mutation thereby causing development of the 5q-syndrome. Other genetic abnormalities in PDGFRB lead to various forms of potentially malignant bone marrow disorders: small deletions in and chromosome translocations causing fusions between PDGFRB and any one of at least 30 genes can cause Myeloproliferative neoplasms that commonly involve eosinophilia, eosinophil-induced organ injury, and possible progression to aggressive leukemia (see blow).