Seroatlas · Human Serome Atlas

PEX12

Peroxisome assembly protein 12

Also known as: PEX12_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O00623
Gene
PEX12
Ensembl
ENSG00000108733
Chromosome
17
Canonical length
359 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

359 residues, UniProt reviewed canonical sequence.

>O00623|PEX12
     1  MAEHGAHFTA ASVADDQPSI FEVVAQDSLM TAVRPALQHV VKVLAESNPT HYGFLWRWFD
    61  EIFTLLDLLL QQHYLSRTSA SFSENFYGLK RIVMGDTHKS QRLASAGLPK QQLWKSIMFL
   121  VLLPYLKVKL EKLVSSLREE DEYSIHPPSS RWKRFYRAFL AAYPFVNMAW EGWFLVQQLR
   181  YILGKAQHHS PLLRLAGVQL GRLTVQDIQA LEHKPAKASM MQQPARSVSE KINSALKKAV
   241  GGVALSLSTG LSVGVFFLQF LDWWYSSENQ ETIKSLTALP TPPPPVHLDY NSDSPLLPKM
   301  KTVCPLCRKT RVNDTVLATS GYVFCYRCVF HYVRSHQACP ITGYPTEVQH LIKLYSPEN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PEX12 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
10 nTPM

Expression across tissuesHPA

Tissue

  • epididymis: 10 nTPM
  • tongue: 10 nTPM
  • skeletal muscle: 9.7 nTPM
  • heart muscle: 8.5 nTPM
  • liver: 8.4 nTPM
  • kidney: 7.7 nTPM

Single-cell type

  • early spermatids: 27 nCPM
  • early primary spermatocytes: 23 nCPM
  • cardiomyocytes: 15 nCPM
  • epididymal principal cells: 11 nCPM
  • oocytes: 9.2 nCPM
  • adrenal cortex cells: 8.6 nCPM

Immune cell

  • naive CD4 T-cell: 4.1 nTPM
  • naive CD8 T-cell: 3.5 nTPM
  • MAIT T-cell: 3.2 nTPM
  • eosinophil: 3 nTPM
  • memory CD4 T-cell: 3 nTPM
  • naive B-cell: 2.7 nTPM

Brain region

  • white matter: 10 nTPM
  • cerebellum: 9.3 nTPM
  • spinal cord: 8 nTPM
  • cerebral cortex: 7.8 nTPM
  • basal ganglia: 7.6 nTPM
  • hypothalamus: 7.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PEX12.

Disease | AllUniProt

Conditions PEX12 is implicated in, by any mechanism.

  • Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) MIM:614859
  • Peroxisome biogenesis disorder 3A (PBD3A) MIM:614859
  • Peroxisome biogenesis disorder 3B (PBD3B) MIM:266510

Disease | GeneticClinVar

118 pathogenic / likely-pathogenic of 552 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)
1.85
gnomAD pLI
0
gnomAD missense Z
0.46
DepMap mean gene effect
-0.05
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

InteractionsUniProt · HPA

Protein binding partners of PEX12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PEX12 as an antibody target. Whether an autoantibody or antibody against PEX12 could matter depends on whether native PEX12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PEX12 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 PEX12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PEX12. 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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