PDGFRA

Chr 4Isolated casesSomatic

platelet derived growth factor receptor alpha

Also known as: CD140A, PDGFR-2, PDGFR2

NCBI Gene: 5156ENSG00000134853UniProt: P16234OMIM: 173490

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familialMIM #175510
Hypereosinophilic syndrome, idiopathic, resistant to imatinibMIM #607685
Isolated casesSomatic

Clinical highlights

Gene-disease validity (ClinGen)
gastrointestinal stromal tumor · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
483
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.17
LOEUF· LoF intol.
GOF*
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.17LOEUF
pLI 1.000
Z-score 6.31
OE 0.07 (0.04–0.17)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.94Z-score
OE missense 0.78 (0.72–0.84)
458 obs / 590.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.07 (0.04–0.17)
0≤0.351.4
Missense OE?0.78 (0.72–0.84)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 4 / 54.1Missense obs/exp: 458 / 590.7Syn Z: -0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PDGFRA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients