Basic Information

Symbol
PDGFRA
RNA class
mRNA
Alias
Platelet Derived Growth Factor Receptor Alpha PDGFR2 CD140a Platelet-Derived Growth Factor Receptor, Alpha Polypeptide Alpha-Type Platelet-Derived Growth Factor Receptor Platelet-Derived Growth Factor Receptor Alpha Platelet-Derived Growth Factor Receptor 2 CD140 Antigen-Like Family Member A CD140a Antigen PDGF-R-Alpha EC 2.7.10.1 PDGFR-2 GAS9 Alpha Platelet-Derived Growth Factor Receptor Platelet-Derived Growth Factor Alpha Receptor PDGFR-Alpha RHEPDGFRA EC 2.7.10
Location (GRCh38)
4:54229130-54298246
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Tissue/body fluid identification
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_006206.6
Sequence length
6378.0 nt
GC content
0.4291

Transcripts

ID Sequence Length GC content
NM_001347827.2 NCBI
AUUACUGUUGGAGCUACAGGGAGAGAAACAGAGGAGGAGACUGCAAGAG… 2856 nt 0.4622
NM_001347828.2 NCBI
AUUACUGUUGGAGCUACAGGGAGAGAAACAGAGGAGGAGACUGCAAGAG… 6456 nt 0.4306
NM_001347829.2 NCBI
AGUUGAAAACAAUGCAAACGCAGAGCGUCGUGCCUGGGGCGCAGCGGCC… 6599 nt 0.4428
NM_001347830.2 NCBI
GACAGCGCGGCCCGGGAACGGCGUCGAGGUCCAGGCGGUCCCCCUGCCC… 6794 nt 0.4413
NM_006206.6 NCBI
AUUACUGUUGGAGCUACAGGGAGAGAAACAGAGGAGGAGACUGCAAGAG… 6378 nt 0.4291
Summary

This gene encodes 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 or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] CIViC Summary for PDGFRA Gene Commonly mutated in GI tract tumors, PDGFR family genes (mutually exclusive to KIT mutations) are a hallmark of gastrointestinal stromal tumors. Gene fusions involving the PDGFRA kinase domain are highly correlated with eosinophilia, and the WHO classifies myeloid and lymphoid neoplasms with these characteristics as a distinct disorder. Mutations in the 842 region of PDGFRA have been often found to confer resistance to the tyrosine kinase inhibitor, imatinib.

Forensic Context

A study in humans demonstrated that the PDGFRA is a protein marker used to identify fibroblasts (FBs) in the corpus cavernosum, with its expression defining the FB cluster and its downregulation observed in circulating T cells during the injury stage following major trauma compared to the recovery stage [Zhao et al. DOI:10.1038/s41467-022-31950-9][Rau et al. DOI:10.2147/JIR.S375881].