Basic Information

Symbol
PDGFRB
RNA class
mRNA
Alias
Platelet Derived Growth Factor Receptor Beta PDGFR1 CD140b JTK12 PDGFR Platelet-Derived Growth Factor Receptor, Beta Polypeptide Beta-Type Platelet-Derived Growth Factor Receptor Platelet-Derived Growth Factor Receptor Beta Platelet-Derived Growth Factor Receptor 1 CD140 Antigen-Like Family Member B PDGF-R-Beta EC 2.7.10.1 PDGFR-Beta PDGFR-1 Beta Platelet-Derived Growth Factor Receptor Activated Tyrosine Kinase PDGFRB CD140b Antigen NDEL1-PDGFRB EC 2.7.10 IBGC4 OPDKD PENTT IMF1 KOGS
Location (GRCh38)
5:150113839-150158260
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_002609.4
Sequence length
5700.0 nt
GC content
0.5754

Transcripts

ID Sequence Length GC content
NM_001355016.2 NCBI
AGCAGCCAGCAGUGACUGCCCGCCCUAUCUGGGACCCAGGAUCGCUCUG… 5654 nt 0.5748
NM_001355017.2 NCBI
AGCAGCCAGCAGUGACUGCCCGCCCUAUCUGGGACCCAGGAUCGCUCUG… 5734 nt 0.5757
NM_002609.4 NCBI
AGCAGCCAGCAGUGACUGCCCGCCCUAUCUGGGACCCAGGAUCGCUCUG… 5700 nt 0.5754
Summary

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] CIViC Summary for PDGFRB Gene

Forensic Context

A study in human menstrual blood-derived stem cells (MenSCs) demonstrated that the PDGFRB was down-regulated with increasing passage number [Chen et al. PMC4713568], while a separate study in human subcutaneous adipose tissue found the PDGFRB was upregulated during short-term weight loss [Bollepalli et al. 10.1038/ijo.2017.245]. A study in humans profiling the corpus cavernosum identified the PDGFRB as a protein marker used to identify the fibroblast (FB) cluster, with its expression validated alongside LUM and COL1A1 [Zhao et al. DOI:10.1038/s41467-022-31950-9].