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Aliases for PEX7 Gene

Aliases for PEX7 Gene

  • Peroxisomal Biogenesis Factor 7 2 3 5
  • PTS2 Receptor 3 4
  • Peroxin-7 3 4
  • PTS2R 3 4
  • Peroxisomal Targeting Signal 2 Receptor 3
  • Peroxisome Targeting Signal 2 Receptor 3
  • Peroxisomal PTS2 Receptor 3
  • Refsum Disease 2
  • PBD9B 3
  • RCDP1 3
  • RD 3

External Ids for PEX7 Gene

Previous GeneCards Identifiers for PEX7 Gene

  • GC06P136766
  • GC06P136990
  • GC06P137124
  • GC06P137185
  • GC06P134707

Summaries for PEX7 Gene

Entrez Gene Summary for PEX7 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]

GeneCards Summary for PEX7 Gene

PEX7 (Peroxisomal Biogenesis Factor 7) is a Protein Coding gene. Diseases associated with PEX7 include Chondrodysplasia Punctata, Rhizomelic, Type 1 and Peroxisome Biogenesis Disorder 9B. Among its related pathways are Peroxisome. GO annotations related to this gene include protein homodimerization activity and peroxisome matrix targeting signal-2 binding. An important paralog of this gene is WDR17.

UniProtKB/Swiss-Prot for PEX7 Gene

  • Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX7 Gene

Genomics for PEX7 Gene

Regulatory Elements for PEX7 Gene

Enhancers for PEX7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PEX7 on UCSC Golden Path with GeneCards custom track

Promoters for PEX7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PEX7 on UCSC Golden Path with GeneCards custom track

Genomic Location for PEX7 Gene

136,822,220 bp from pter
136,913,937 bp from pter
91,718 bases
Plus strand

Genomic View for PEX7 Gene

Genes around PEX7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX7 Gene

Proteins for PEX7 Gene

  • Protein details for PEX7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Peroxisomal targeting signal 2 receptor
    Protein Accession:
    Secondary Accessions:
    • C0H5X6

    Protein attributes for PEX7 Gene

    323 amino acids
    Molecular mass:
    35892 Da
    Quaternary structure:
    • Interacts with PEX5.

    Alternative splice isoforms for PEX7 Gene


neXtProt entry for PEX7 Gene

Proteomics data for PEX7 Gene at MOPED

Post-translational modifications for PEX7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PEX7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PEX7 Gene

Domains & Families for PEX7 Gene

Gene Families for PEX7 Gene

Suggested Antigen Peptide Sequences for PEX7 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the WD repeat peroxin-7 family.
  • Contains 6 WD repeats.
  • Belongs to the WD repeat peroxin-7 family.
  • Contains 6 WD repeats.
genes like me logo Genes that share domains with PEX7: view

Function for PEX7 Gene

Molecular function for PEX7 Gene

GENATLAS Biochemistry:
peroxin 7,peroxisome biogenesis factor 7,peroxisomal PTS2 receptor (peroxisome targetting signal 2),complementation group 11 (KKI)
UniProtKB/Swiss-Prot Function:
Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.

Gene Ontology (GO) - Molecular Function for PEX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IDA 11931631
genes like me logo Genes that share ontologies with PEX7: view
genes like me logo Genes that share phenotypes with PEX7: view

Human Phenotype Ontology for PEX7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX7 Gene

MGI Knock Outs for PEX7:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX7 Gene

Localization for PEX7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX7 Gene

Peroxisome. Cytoplasm.

Subcellular locations from

Jensen Localization Image for PEX7 Gene COMPARTMENTS Subcellular localization image for PEX7 gene
Compartment Confidence
cytosol 5
peroxisome 5
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for PEX7 Gene

Pathways & Interactions for PEX7 Gene

SuperPathways for PEX7 Gene

Superpath Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX7: view

Pathways by source for PEX7 Gene

1 KEGG pathway for PEX7 Gene

Gene Ontology (GO) - Biological Process for PEX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0001958 endochondral ossification IEA --
genes like me logo Genes that share ontologies with PEX7: view

No data available for SIGNOR curated interactions for PEX7 Gene

Drugs & Compounds for PEX7 Gene

(2) Additional Compounds for PEX7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PEX7: view

Transcripts for PEX7 Gene

Unigene Clusters for PEX7 Gene

Peroxisomal biogenesis factor 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PEX7 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
SP2: -
SP3: - - - - - -

Relevant External Links for PEX7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PEX7 Gene

mRNA expression in normal human tissues for PEX7 Gene

Protein differential expression in normal tissues from HIPED for PEX7 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX7 Gene

SOURCE GeneReport for Unigene cluster for PEX7 Gene Hs.280932

mRNA Expression by UniProt/SwissProt for PEX7 Gene

Tissue specificity: Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.
genes like me logo Genes that share expression patterns with PEX7: view

Protein tissue co-expression partners for PEX7 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PEX7 Gene

Orthologs for PEX7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX7 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PEX7 35
  • 89.89 (n)
  • 90.71 (a)
PEX7 36
  • 91 (a)
(Canis familiaris)
Mammalia PEX7 35
  • 91.43 (n)
  • 92.57 (a)
PEX7 36
  • 93 (a)
(Mus musculus)
Mammalia Pex7 35
  • 88.71 (n)
  • 92.41 (a)
Pex7 16
Pex7 36
  • 92 (a)
(Pan troglodytes)
Mammalia PEX7 35
  • 99.48 (n)
  • 99.07 (a)
PEX7 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Pex7 35
  • 87.45 (n)
  • 91.14 (a)
(Monodelphis domestica)
Mammalia PEX7 36
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia PEX7 36
  • 82 (a)
(Gallus gallus)
Aves PEX7 35
  • 78.06 (n)
  • 82.75 (a)
PEX7 36
  • 81 (a)
(Anolis carolinensis)
Reptilia PEX7 36
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pex7 35
  • 70.39 (n)
  • 73.6 (a)
(Danio rerio)
Actinopterygii pex7 35
  • 65.16 (n)
  • 68.06 (a)
pex7 36
  • 68 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6486 37
  • 43 (a)
Pex7 35
  • 50.27 (n)
  • 45.93 (a)
Pex7 36
  • 41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006264 35
  • 51.25 (n)
  • 50.16 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX7 36
  • 28 (a)
PEX7 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PEX7 35
  • 52.82 (n)
  • 45.61 (a)
(Oryza sativa)
Liliopsida Os02g0245100 35
  • 47.17 (n)
  • 46.94 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
Species with no ortholog for PEX7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PEX7 Gene

Gene Tree for PEX7 (if available)
Gene Tree for PEX7 (if available)

Paralogs for PEX7 Gene

Paralogs for PEX7 Gene

(1) SIMAP similar genes for PEX7 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PEX7: view

Variants for PEX7 Gene

Sequence variations from dbSNP and Humsavar for PEX7 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_007725 -
VAR_007726 Rhizomelic chondrodysplasia punctata 1 (RCDP1)
VAR_016810 Peroxisome biogenesis disorder 9B (PBD9B)
rs1012515 -- 136,895,709(+) CTTAG(A/T)TTAGG intron-variant
rs1050803 -- 136,913,832(+) TATAC(G/T)TATAT utr-variant-3-prime

Variation tolerance for PEX7 Gene

Residual Variation Intolerance Score: 27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX7 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PEX7 Gene

Disorders for PEX7 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PEX7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chondrodysplasia punctata, rhizomelic, type 1
  • rhizomelic chondrodysplasia punctata, type 1
peroxisome biogenesis disorder 9b
  • atypical peroxisome biogenesis disorder pex7-related
refsum disease
  • heredopathia atactica polyneuritiformis
pex7-related refsum disease
rhizomelic chondrodysplasia punctata
  • rcdp
- elite association - COSMIC cancer census association via MalaCards
Search PEX7 in MalaCards View complete list of genes associated with diseases


  • Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879]: A peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure. {ECO:0000269 PubMed:12522768}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder complementation group 11 (PBD-CG11) [MIM:614879]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100]: A peroxisome biogenesis disorder. It is characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity. {ECO:0000269 PubMed:9090381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PEX7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PEX7: view

No data available for Genatlas for PEX7 Gene

Publications for PEX7 Gene

  1. PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. (PMID: 10673331) Braverman N. … Valle D. (Genomics 2000) 2 3 4 23 67
  2. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. (PMID: 9090381) Braverman N. … Valle D. (Nat. Genet. 1997) 2 3 23
  3. Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. (PMID: 20145307) Phadke S.R. … Braverman N. (J. Appl. Genet. 2010) 3 23
  4. Molecular basis of Refsum disease: sequence variations in phytanoyl- CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (PMID: 14974078) Jansen G.A. … Wanders R.J.A. (Hum. Mutat. 2004) 3 23
  5. Identification of PEX7 as the second gene involved in Refsum disease. (PMID: 12522768) van den Brink D.M. … Wanders R.J.A. (Am. J. Hum. Genet. 2003) 3 23

Products for PEX7 Gene

Sources for PEX7 Gene