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Gene

PEX2

peroxisomal biogenesis factor 2

Summary

Cytogenetic location
8q21.13
Coordinates
Chromosome 8: 76,980,258–77,000,078 (GRCh38)
Exons
4 exons across 19.8 kb
Protein
305 amino acids
Inheritance
Autosomal recessive
Also known as
PMP35, PAF-1, RNF72, ZWS3
Previous symbols
PXMP3
MANE Select transcript
ENST00000357039.9NM_000318.3
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 reports relevant to this gene

  • Zellweger Spectrum & Peroxisome Biogenesis Disorders

    • Peroxisome biogenesis disorders (Zellweger spectrum and rhizomelic chondrodysplasia punctata)Autosomal recessive

      Changes in any of more than a dozen PEX genes, most often PEX1, affect the brain, liver, kidneys, bones, eyes and hearing, with severity ranging from life-limiting disease in infancy to milder vision, hearing and learning problems.

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

      Diagnosis guides monitoring of liver, adrenal, vision and hearing function, supplementation where appropriate, and carrier testing for relatives.

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

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

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PEX2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 8, with a bracket where PEX2 sits. PEX2 and 1 gene near it on chromosome 8, from 76,490,168 to 77,490,167.Chromosome 88q21.13p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.376.6 Mb76.8 Mb77 Mb77.2 Mb77.4 MbZFHX4: 76,681,239–76,867,281, forward strandZFHX4PEX2: 76,980,258–77,000,078, reverse strandPEX2Diagram of PEX2: 4 exons on the reverse strand of chromosome 8Exon 4: 80 known disease-causing sitesExon 4: 76,980,258–76,984,195, 3,938 basesExon 3: 76,986,187–76,986,296, 110 basesExon 2: 76,988,307–76,988,338, 32 basesExon 1: 76,999,990–77,000,078, 89 bases43215′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 4.2 kb of the gene's 19.8 kb; 918 of those bases code for the protein.

How a genome test reads PEX2

81

positions in PEX2 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 19.8 kb of PEX2, introns included, not only the 4.2 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.). PEX2 gene: peroxisomal biogenesis factor 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/pex2

Vancouver

Dante Labs. PEX2 gene: peroxisomal biogenesis factor 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pex2

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