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Gene

PDGFRB

platelet derived growth factor receptor beta

Summary

Cytogenetic location
5q32
Coordinates
Chromosome 5: 150,113,839–150,155,845 (GRCh38)
Exons
23 exons across 42 kb
Protein
1,106 amino acids
Inheritance
Autosomal dominant
Also known as
JTK12, CD140b, PDGFR1
Previous symbols
PDGFR
MANE Select transcript
ENST00000261799.9NM_002609.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Basal Ganglia Calcification

    • Primary Familial Brain Calcification (All Types)

      Umbrella term covering primary familial brain calcification (bilateral striopallidodentate calcinosis), including the dominant SLC20A2, PDGFRB, PDGFB and XPR1 forms and the recessive MYORG and JAM2 forms.

      • 3 GenCC submitters rate it definitive or strong

  • Hereditary Fibromatoses

    • Infantile myofibromatosisAutosomal dominant

      Benign fibrous tumours in the skin, muscle, bone or organs appearing in infancy, most often caused by PDGFRB variants; many regress on their own.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PDGFRB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where PDGFRB sits. PDGFRB and 16 genes near it on chromosome 5, from 149,634,842 to 150,634,841.Chromosome 55q32p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3149.8 Mb150 Mb150.2 Mb150.4 Mb150.6 MbARHGEF37: 149,551,947–149,637,962, forward strandARHGEF37PPARGC1B: 149,729,994–149,855,022, forward strandPPARGC1BPDE6A: 149,857,953–149,945,287, reverse strandPDE6ASLC26A2: 149,960,748–149,993,455, forward strandSLC26A2TIGD6: 149,992,252–150,001,160, reverse strandTIGD6HMGXB3: 150,000,046–150,053,148, forward strandHMGXB3CSF1R: 150,053,291–150,113,372, reverse strandCSF1RPDGFRB: 150,113,839–150,155,845, reverse strandPDGFRBCDX1: 150,166,772–150,186,162, forward strandCDX1SLC6A7: 150,190,041–150,222,788, forward strandSLC6A7CAMK2A: 150,219,491–150,290,324, reverse strandCAMK2AARSI: 150,296,343–150,339,307, reverse strandARSITCOF1: 150,357,629–150,400,510, forward strandTCOF1CD74: 150,401,637–150,412,969, reverse strandCD74RPS14: 150,429,756–150,449,952, reverse strandRPS14NDST1: 150,485,405–150,558,211, forward strandNDST1SYNPO: 150,601,080–150,659,208, forward strandSYNPODiagram of PDGFRB: 23 exons on the reverse strand of chromosome 5Exon 18: 4 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 12: 7 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 23: 150,113,839–150,115,946, 2,108 basesExon 22: 150,117,618–150,117,850, 233 basesExon 21: 150,118,747–150,118,852, 106 basesExon 20: 150,119,467–150,119,566, 100 basesExon 19: 150,120,012–150,120,123, 112 basesExon 18: 150,120,888–150,121,010, 123 basesExon 17: 150,121,204–150,121,322, 119 basesExon 16: 150,121,880–150,122,040, 161 basesExon 15: 150,123,042–150,123,201, 160 basesExon 14: 150,124,250–150,124,360, 111 basesExon 13: 150,124,727–150,124,831, 105 basesExon 12: 150,125,445–150,125,577, 133 basesExon 11: 150,126,520–150,126,614, 95 basesExon 10: 150,129,757–150,129,968, 212 basesExon 9: 150,130,539–150,130,662, 124 basesExon 8: 150,131,979–150,132,094, 116 basesExon 7: 150,132,750–150,132,942, 193 basesExon 6: 150,133,586–150,133,760, 175 basesExon 5: 150,133,881–150,134,008, 128 basesExon 4: 150,134,750–150,135,016, 267 basesExon 3: 150,135,555–150,135,878, 324 basesExon 2: 150,137,008–150,137,053, 46 basesExon 1: 150,155,397–150,155,845, 449 bases2322201816141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.7 kb of the gene's 42 kb; 3,321 of those bases code for the protein.

How a genome test reads PDGFRB

20

positions in PDGFRB where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 42 kb of PDGFRB, introns included, not only the 5.7 kb of exons.

Genes linked to the same conditions

Traits linked to PDGFRB

The Human Phenotype Ontology lists these as features of the rare conditions PDGFRB can cause. Each trait's page lists the other genes linked to it.

Abnormality of the nervous system

Show 34 more traits

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PDGFRB gene: platelet derived growth factor receptor beta. Retrieved 17 October 2026, from https://dantelabs.com/genes/pdgfrb

Vancouver

Dante Labs. PDGFRB gene: platelet derived growth factor receptor beta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pdgfrb

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