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Gene

PDGFB

platelet derived growth factor subunit B

Summary

Cytogenetic location
22q13.1
Coordinates
Chromosome 22: 39,223,359–39,244,982 (GRCh38)
Exons
7 exons across 21.6 kb
Protein
241 amino acids
Also known as
SSV
Previous symbols
SIS
MANE Select transcript
ENST00000331163.11NM_002608.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report 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

How PDGFB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where PDGFB sits. PDGFB and 23 genes near it on chromosome 22, from 38,734,171 to 39,734,170.Chromosome 2222q13.1p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3338.8 Mb39 Mb39.2 Mb39.4 Mb39.6 MbGTPBP1: 38,705,742–38,738,299, forward strandGTPBP1SUN2: 38,733,280–38,794,198, reverse strandSUN2DNAL4: 38,778,505–38,794,198, reverse strandDNAL4NPTXR: 38,818,452–38,844,036, reverse strandNPTXRCBX6: 38,861,422–38,872,249, reverse strandCBX6APOBEC3A: 38,952,741–38,963,184, forward strandAPOBEC3AAPOBEC3B: 38,982,347–38,992,804, forward strandAPOBEC3C: 39,014,163–39,020,352, forward strand: 39,014,363–39,033,276, forward strandAPOBEC3D: 39,020,952–39,034,327, forward strandAPOBEC3DAPOBEC3F: 39,040,604–39,055,972, forward strandAPOBEC3FAPOBEC3G: 39,077,054–39,087,744, forward strandAPOBEC3GAPOBEC3H: 39,096,257–39,104,071, forward strandAPOBEC3HCBX7: 39,119,306–39,152,719, reverse strandCBX7PDGFB: 39,223,359–39,244,982, reverse strandPDGFBRPL3: 39,312,870–39,320,389, reverse strandRPL3SYNGR1: 39,349,856–39,385,760, forward strandSYNGR1TAB1: 39,399,778–39,437,128, forward strandTAB1MGAT3: 39,447,127–39,492,194, forward strandMGAT3MIEF1: 39,499,432–39,518,132, forward strandMIEF1MIURF: 39,504,231–39,504,443, forward strandMIURFATF4: 39,519,695–39,522,690, forward strandATF4RPS19BP1: 39,522,878–39,532,826, reverse strandRPS19BP1CACNA1I: 39,570,753–39,689,735, forward strandCACNA1IDiagram of PDGFB: 7 exons on the reverse strand of chromosome 22Exon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 1: 3 known disease-causing sitesExon 7: 39,223,359–39,225,313, 1,955 basesExon 6: 39,225,695–39,225,847, 153 basesExon 5: 39,230,084–39,230,228, 145 basesExon 4: 39,231,622–39,231,827, 206 basesExon 3: 39,233,435–39,233,524, 90 basesExon 2: 39,235,778–39,235,874, 97 basesExon 1: 39,243,901–39,244,982, 1,082 bases76543215′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 3.7 kb of the gene's 21.6 kb; 726 of those bases code for the protein.

How a genome test reads PDGFB

6

positions in PDGFB 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 21.6 kb of PDGFB, introns included, not only the 3.7 kb of exons.

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.). PDGFB gene: platelet derived growth factor subunit B. Retrieved 16 October 2026, from https://dantelabs.com/genes/pdgfb

Vancouver

Dante Labs. PDGFB gene: platelet derived growth factor subunit B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pdgfb

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