PDGFRB

Chr 5AD

platelet derived growth factor receptor beta

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

NCBI Gene: 5159ENSG00000113721UniProt: P09619OMIM: 173410

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]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Ocular pterygium-digital keloid dysplasia syndromeMIM #621091
AD
Basal ganglia calcification, idiopathic, 4MIM #615007
AD
Kosaki overgrowth syndromeMIM #616592
AD
Myofibromatosis, infantile, 1MIM #228550
AD
Premature aging syndrome, Penttinen typeMIM #601812
AD
UniProtMyeloproliferative disorder chronic with eosinophilia
UniProtLeukemia, acute myelogenous
UniProtLeukemia, juvenile myelomonocytic

Clinical highlights

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.
5
Active trials
245
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.33
LOEUF· LoF intol.
GOF
Mechanism· G2P
📖
GeneReview available — PDGFRB
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.33LOEUF
pLI 0.904
Z-score 5.58
OE 0.20 (0.12–0.33)
Highly constrained

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

Missense Constraint?
1.84Z-score
OE missense 0.80 (0.75–0.86)
563 obs / 700.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.20 (0.12–0.33)
0≤0.351.4
Missense OE?0.80 (0.75–0.86)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 11 / 56.1Missense obs/exp: 563 / 700.1Syn Z: -1.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PDGFRB · 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