Seroatlas · Human Serome Atlas

PEX7

Peroxisomal targeting signal 2 receptor

Also known as: PEX7_HUMAN, PTS2R, RD

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

Protein identityUniProt · HPA

UniProt accession
O00628
Gene
PEX7
Ensembl
ENSG00000112357
Chromosome
6
Canonical length
323 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Nucleoplasm,Vesicles

OverviewNCBI Gene

This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one 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 have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

323 residues, UniProt reviewed canonical sequence.

>O00628|PEX7
     1  MSAVCGGAAR MLRTPGRHGY AAEFSPYLPG RLACATAQHY GIAGCGTLLI LDPDEAGLRL
    61  FRSFDWNDGL FDVTWSENNE HVLITCSGDG SLQLWDTAKA AGPLQVYKEH AQEVYSVDWS
   121  QTRGEQLVVS GSWDQTVKLW DPTVGKSLCT FRGHESIIYS TIWSPHIPGC FASASGDQTL
   181  RIWDVKAAGV RIVIPAHQAE ILSCDWCKYN ENLLVTGAVD CSLRGWDLRN VRQPVFELLG
   241  HTYAIRRVKF SPFHASVLAS CSYDFTVRFW NFSKPDSLLE TVEHHTEFTC GLDFSLQSPT
   301  QVADCSWDET IKIYDPACLT IPA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PEX7 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.22
Highest tissue expression
25 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 25 nTPM
  • epididymis: 16 nTPM
  • parathyroid gland: 16 nTPM
  • stomach: 15 nTPM
  • kidney: 15 nTPM
  • adrenal gland: 13 nTPM

Single-cell type

  • parietal cells: 164 nCPM
  • sertoli cells: 73 nCPM
  • renal collecting duct intercalated cells: 67 nCPM
  • breast lactating cells: 66 nCPM
  • mucous neck cells: 55 nCPM
  • cardiomyocytes: 54 nCPM

Immune cell

  • basophil: 2.9 nTPM
  • naive CD4 T-cell: 2.4 nTPM
  • T-reg: 2.4 nTPM
  • eosinophil: 2.3 nTPM
  • myeloid DC: 2.3 nTPM
  • non-classical monocyte: 2 nTPM

Brain region

  • cerebellum: 12 nTPM
  • white matter: 11 nTPM
  • choroid plexus: 10 nTPM
  • thalamus: 9.4 nTPM
  • basal ganglia: 9.3 nTPM
  • spinal cord: 9.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PEX7.

Disease | AllUniProt

Conditions PEX7 is implicated in, by any mechanism.

  • Peroxisome biogenesis disorder complementation group 11 (PBD-CG11) MIM:614879
  • Rhizomelic chondrodysplasia punctata 1 (RCDP1) MIM:215100
  • Peroxisome biogenesis disorder 9B (PBD9B) MIM:614879

Disease | GeneticClinVar

142 pathogenic / likely-pathogenic of 748 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)
1.42
gnomAD pLI
0
gnomAD missense Z
0.5
DepMap mean gene effect
-0.02
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 PEX7 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 PEX7 as an antibody target. Whether an autoantibody or antibody against PEX7 could matter depends on whether native PEX7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PEX7 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 PEX7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PEX7. 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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