PEX2

Chr 8

peroxisomal biogenesis factor 2

Also known as: PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3

NCBI Gene: 5828ENSG00000164751UniProt: P28328

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPeroxisome biogenesis disorder complementation group 5
UniProtPeroxisome biogenesis disorder 5A
UniProtPeroxisome biogenesis disorder 5B

Clinical highlights

Gene-disease validity (ClinGen)
peroxisome biogenesis disorder · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.20
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — PEX2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.20LOEUF
pLI 0.000
Z-score 1.11
OE 0.64 (0.36–1.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.05Z-score
OE missense 0.99 (0.87–1.13)
152 obs / 153.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.36–1.20)
0≤0.351.4
Missense OE?0.99 (0.87–1.13)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 7 / 11.0Missense obs/exp: 152 / 153.6Syn Z: 0.92

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PEX2 · 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