PDGFA

Chr 7

platelet derived growth factor subunit A

Also known as: PDGF-A, PDGF1

NCBI Gene: 5154ENSG00000197461UniProt: P04085

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 A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

82
ClinVar variants
39
Pathogenic / LP
0.81
pLI score
0
Active trials
Clinical Summary— PDGFA
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.81) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
39 Pathogenic / Likely Pathogenic· 40 VUS of 82 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.48LOEUF
pLI 0.808
Z-score 2.61
OE 0.10 (0.04–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.69Z-score
OE missense 0.83 (0.70–0.97)
102 obs / 123.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.10 (0.04–0.48)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.83 (0.70–0.97)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.21
0≤1.21.6
LoF obs/exp: 1 / 9.8Missense obs/exp: 102 / 123.4Syn Z: -1.20

ClinVar Variant Classifications

82 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic1
VUS40
Likely Benign2
Benign1
38
Pathogenic
1
Likely Pathogenic
40
VUS
2
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
38
0
38
Likely Pathogenic
0
0
1
0
1
VUS
0
28
12
0
40
Likely Benign
0
2
0
0
2
Benign
0
0
0
1
1
Total03051182

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PDGFA · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Transcriptomic profiling across the nonalcoholic fatty liver disease spectrum reveals gene signatures for steatohepatitis and fibrosis.
Govaere O et al.·Sci Transl Med
2020
EPHA2 mediates PDGFA activity and functions together with PDGFRA as prognostic marker and therapeutic target in glioblastoma.
Gai QJ et al.·Signal Transduct Target Ther
2022
Interleukin-1 and hematopoiesis.
Bagby GC Jr·Blood Rev
1989Review
Increased expression of PDGFA and RAF1 in Tumor-derived exosomes in human colorectal cancer.
Vafaei S et al.·Cell Mol Biol (Noisy-le-grand)
2025
A New Approach for Achieving Earlier and More Accurate Diagnosis of Connective Tissue Disease-Related Interstitial Lung Disease: TGFB and PDGFA as Novel Promising Biomarkers.
Pulito-Cueto V et al.·Int J Mol Sci
2025
Sorafenib inhibits ovarian inflammation and fibrosis in polycystic ovary syndrome by targeting the PDGFA/PDGFRα/NF-κB pathway in granulosa cells†.
Liu X et al.·Biol Reprod
2025
Identification of novel biomarkers associated with immune infiltration in major depression disorder and atopic dermatitis.
Jiang H et al.·Arch Dermatol Res
2025
High expression of PDGFA predicts poor prognosis of esophageal squamous cell carcinoma.
Han N et al.·Medicine (Baltimore)
2021
Large-Scale Blood Proteomic Analysis Across Different Inflammatory Skin Conditions Reveals Extensive Immune Dysregulation With Distinct Biomarker Profiles.
Glickman JW et al.·Allergy
2026
Reactive astrocyte-related pathogenic genes in depression: A multi-omics Mendelian randomization study.
Fang P et al.·J Affect Disord
2026
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools