Seroatlas · Human Serome Atlas

PEX2

Peroxisome biogenesis factor 2

Also known as: PAF-1, PEX2_HUMAN, PMP35, PXMP3, RNF72, ZWS3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P28328
Gene
PEX2
Ensembl
ENSG00000164751
Chromosome
8
Canonical length
305 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Nucleoplasm,Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

305 residues, UniProt reviewed canonical sequence.

>P28328|PEX2
     1  MASRKENAKS ANRVLRISQL DALELNKALE QLVWSQFTQC FHGFKPGLLA RFEPEVKACL
    61  WVFLWRFTIY SKNATVGQSV LNIKYKNDFS PNLRYQPPSK NQKIWYAVCT IGGRWLEERC
   121  YDLFRNHHLA SFGKVKQCVN FVIGLLKLGG LINFLIFLQR GKFATLTERL LGIHSVFCKP
   181  QNICEVGFEY MNRELLWHGF AEFLIFLLPL INVQKLKAKL SSWCIPLTGA PNSDNTLATS
   241  GKECALCGEW PTMPHTIGCE HIFCYFCAKS SFLFDVYFTC PKCGTEVHSL QPLKSGIEMS
   301  EVNAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PEX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
5
Mean surface accessibility (rSASA)
0.39
Highest tissue expression
78 nTPM

Expression across tissuesHPA

Tissue

  • seminal vesicle: 78 nTPM
  • retina: 62 nTPM
  • skeletal muscle: 58 nTPM
  • choroid plexus: 57 nTPM
  • parathyroid gland: 54 nTPM
  • breast: 50 nTPM

Single-cell type

  • parietal cells: 118 nCPM
  • esophageal apical cells: 115 nCPM
  • oocytes: 106 nCPM
  • gastric chief cells: 83 nCPM
  • fallopian tube ciliated cells: 68 nCPM
  • epididymal principal cells: 62 nCPM

Immune cell

  • basophil: 181 nTPM
  • eosinophil: 103 nTPM
  • NK-cell: 83 nTPM
  • total PBMC: 72 nTPM
  • non-classical monocyte: 68 nTPM
  • intermediate monocyte: 58 nTPM

Brain region

  • white matter: 53 nTPM
  • choroid plexus: 45 nTPM
  • medulla oblongata: 42 nTPM
  • spinal cord: 42 nTPM
  • basal ganglia: 39 nTPM
  • hypothalamus: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PEX2.

Disease | AllUniProt

Conditions PEX2 is implicated in, by any mechanism.

  • Peroxisome biogenesis disorder complementation group 5 (PBD-CG5) MIM:614866
  • Peroxisome biogenesis disorder 5A (PBD5A) MIM:614866
  • Peroxisome biogenesis disorder 5B (PBD5B) MIM:614867

Disease | GeneticClinVar

93 pathogenic / likely-pathogenic of 534 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.2
gnomAD pLI
0
gnomAD missense Z
0.05
DepMap mean gene effect
0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PEX2 as an antibody target. Whether an autoantibody or antibody against PEX2 could matter depends on whether native PEX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PEX2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PEX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PEX2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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