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Gene

PXDN

peroxidasin

Summary

Cytogenetic location
2p25.3
Coordinates
Chromosome 2: 1,631,887–1,744,515 (GRCh38)
Exons
23 exons across 112.6 kb
Protein
1,479 amino acids
Also known as
KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN
MANE Select transcript
ENST00000252804.9NM_012293.3
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

  • Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & Aniridia

    • Anterior Segment Dysgenesis

      A group of developmental conditions of the front of the eye, including Peters anomaly, caused by changes in genes such as FOXC1, PITX3, FOXE3, CYP1B1 and CPAMD8.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      There is a high lifetime risk of glaucoma, so regular eye-pressure monitoring is recommended.

How PXDN is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where PXDN sits. PXDN and 3 genes near it on chromosome 2, from 1,188,201 to 2,188,200.Chromosome 22p25.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.31.2 Mb1.4 Mb1.6 Mb1.8 Mb2 MbSNTG2: 950,816–1,367,613, forward strandSNTG2TPO: 1,373,933–1,543,711, forward strandTPOPXDN: 1,631,887–1,744,515, reverse strandPXDNMYT1L: 1,789,113–2,331,664, reverse strandMYT1LDiagram of PXDN: 23 exons on the reverse strand of chromosome 2Exon 22: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 17: 7 known disease-causing sitesExon 16: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 2 known disease-causing sitesExon 23: 1,631,887–1,634,323, 2,437 basesExon 22: 1,635,408–1,635,521, 114 basesExon 21: 1,638,846–1,638,978, 133 basesExon 20: 1,639,302–1,639,422, 121 basesExon 19: 1,643,368–1,643,576, 209 basesExon 18: 1,644,618–1,644,752, 135 basesExon 17: 1,648,172–1,649,675, 1,504 basesExon 16: 1,653,628–1,653,785, 158 basesExon 15: 1,654,400–1,654,508, 109 basesExon 14: 1,660,881–1,661,037, 157 basesExon 13: 1,662,072–1,662,184, 113 basesExon 12: 1,663,605–1,663,763, 159 basesExon 11: 1,664,958–1,665,074, 117 basesExon 10: 1,666,214–1,666,486, 273 basesExon 9: 1,673,643–1,673,812, 170 basesExon 8: 1,676,927–1,677,044, 118 basesExon 7: 1,680,193–1,680,362, 170 basesExon 6: 1,683,656–1,683,727, 72 basesExon 5: 1,684,080–1,684,151, 72 basesExon 4: 1,687,632–1,687,703, 72 basesExon 3: 1,691,928–1,691,999, 72 basesExon 2: 1,693,063–1,693,134, 72 basesExon 1: 1,744,256–1,744,515, 260 bases23201510515′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 6.8 kb of the gene's 112.6 kb; 4,440 of those bases code for the protein.

How a genome test reads PXDN

19

positions in PXDN 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 112.6 kb of PXDN, introns included, not only the 6.8 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.). PXDN gene: peroxidasin. Retrieved 16 October 2026, from https://dantelabs.com/genes/pxdn

Vancouver

Dante Labs. PXDN gene: peroxidasin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pxdn

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