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Aliases for PEX7 Gene

Aliases for PEX7 Gene

  • Peroxisomal Biogenesis Factor 7 2 3 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 Rhizomelic Chondrodysplasia Punctata, Type 1 and Peroxisome Biogenesis Disorder 9B. Among its related pathways are Peroxisome. Gene Ontology (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.

Additional gene information for PEX7 Gene

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

Genomics for PEX7 Gene

GeneHancer (GH) Regulatory Elements for PEX7 Gene

Promoters and enhancers for PEX7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J136821 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 669 +0.5 460 1.8 SMAD1 SIN3A ZNF2 YY1 ZNF766 CBX5 ZNF143 FOS SP3 NFYC PEX7 BCLAF1 GC06M136857 ENSG00000201807
GH06J136820 Enhancer 0.2 ENCODE 668.9 -1.4 -1442 0.2 PEX7 MAP3K5
GH06J136782 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17 -34.4 -34393 12.1 HDGF FOXA2 PKNOX1 CLOCK SMAD1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B MAP3K5 BCLAF1 PEX7 ENSG00000216519 MTFR2 IFNGR1 LOC101928429
GH06J136760 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 26.4 -57.6 -57604 9.2 HDGF PKNOX1 SMAD1 YBX1 IRF4 YY1 GATA2 ATF7 RUNX3 RXRA BCLAF1 PEX7 MAP3K5 LOC101928461 RNA5SP219 LOC101928429
GH06J136770 Enhancer 1.4 Ensembl ENCODE dbSUPER 27.3 -48.7 -48746 5.1 HDGF PKNOX1 FOXA2 SMAD1 FEZF1 ZNF2 IRF4 GLIS2 ZNF213 ZNF143 PEX7 ENSG00000216519 BCLAF1 RNA5SP219 LOC101928461 LOC101928429 MAP3K5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEX7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PEX7 gene promoter:
  • c-Jun
  • ATF-2
  • AP-1
  • PPAR-gamma2
  • PPAR-gamma1
  • YY1
  • Pax-5
  • E2F-1
  • E2F
  • Pax-4a

Genomic Locations for PEX7 Gene

Genomic Locations for PEX7 Gene
91,718 bases
Plus strand
91,374 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

Post-translational modifications for PEX7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PEX7 Gene

No data available for DME Specific Peptides for PEX7 Gene

Domains & Families for PEX7 Gene

Gene Families for PEX7 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Suggested Antigen Peptide Sequences for PEX7 Gene

Graphical View of Domain Structure for InterPro Entry



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

Function for PEX7 Gene

Molecular function for PEX7 Gene

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

Gene Ontology (GO) - Molecular Function for PEX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005053 peroxisome matrix targeting signal-2 binding IDA 9090381
GO:0005515 protein binding IEA --
GO:0019899 enzyme binding IPI 11931631
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:
  • Pex7 Pex7<tm1Rjaw>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PEX7 gene
Compartment Confidence
peroxisome 5
cytosol 5
nucleus 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PEX7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005777 peroxisome IEA,IDA 9090382
GO:0005782 peroxisomal matrix IDA 11931631
GO:0005829 cytosol IDA 11931631
genes like me logo Genes that share ontologies with PEX7: view

Pathways & Interactions for PEX7 Gene

SuperPathway 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 --
GO:0006625 protein targeting to peroxisome IEA --
GO:0006635 fatty acid beta-oxidation IEA --
GO:0007031 peroxisome organization IMP 10022913
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

mRNA/cDNA for PEX7 Gene

Unigene Clusters for PEX7 Gene

Peroxisomal biogenesis factor 7:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PEX7 Gene

Protein tissue co-expression partners for PEX7 Gene

NURSA nuclear receptor signaling pathways regulating expression of PEX7 Gene:


SOURCE GeneReport for Unigene cluster for PEX7 Gene:


mRNA Expression by UniProt/SwissProt for PEX7 Gene:

Tissue specificity: Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.

Evidence on tissue expression from TISSUES for PEX7 Gene

  • Eye(4.1)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • skull
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • spleen
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PEX7: view

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
(Pan troglodytes)
Mammalia PEX7 34 33
  • 99.48 (n)
(Canis familiaris)
Mammalia PEX7 34 33
  • 91.43 (n)
(Bos Taurus)
Mammalia PEX7 34 33
  • 89.89 (n)
(Mus musculus)
Mammalia Pex7 16 34 33
  • 88.71 (n)
(Rattus norvegicus)
Mammalia Pex7 33
  • 87.45 (n)
(Monodelphis domestica)
Mammalia PEX7 34
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia PEX7 34
  • 82 (a)
(Gallus gallus)
Aves PEX7 34 33
  • 78.06 (n)
(Anolis carolinensis)
Reptilia PEX7 34
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pex7 33
  • 70.39 (n)
(Danio rerio)
Actinopterygii pex7 34 33
  • 65.16 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006264 33
  • 51.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pex7 34 33
  • 50.27 (n)
CG6486 35
  • 43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX7 36 34
  • 28 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PEX7 33
  • 52.82 (n)
(Oryza sativa)
Liliopsida Os02g0245100 33
  • 47.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
Species where no ortholog for PEX7 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for PEX7: view image

Paralogs for PEX7 Gene

Paralogs for PEX7 Gene

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

  • C0H5X6_HUMAN
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 Variation AA Info Type
rs1043615342 uncertain-significance, Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata 136,822,759(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1050803 benign, Rhizomelic chondrodysplasia punctata, Phytanic acid storage disease 136,913,832(+) T/G 3_prime_UTR_variant
rs1057516574 likely-pathogenic, Rhizomelic chondrodysplasia punctata type 1 136,866,645(+) T/TT coding_sequence_variant, frameshift, intron_variant
rs1057516737 likely-pathogenic, Rhizomelic chondrodysplasia punctata type 1 136,822,746(+) C/G coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant
rs1057516824 likely-pathogenic, Rhizomelic chondrodysplasia punctata type 1 136,872,220(+) TGCTGGCCTCTTGCT/TGCT coding_sequence_variant, frameshift, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PEX7 Gene

Variant ID Type Subtype PubMed ID
dgv6149n100 CNV gain 25217958
dgv6150n100 CNV loss 25217958
esv3571415 CNV loss 25503493
nsv965772 CNV duplication 23825009

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)

Additional Variant Information for PEX7 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX7 Gene

Disorders for PEX7 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search PEX7 in MalaCards View complete list of genes associated with diseases


  • 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.
  • 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.

Additional Disease Information for PEX7

Genetic Association Database
Human Genome Epidemiology 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 22 58
  2. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. (PMID: 9090381) Braverman N … Valle D (Nature genetics 1997) 2 3 4 22 58
  3. Identification of PEX7 as the second gene involved in Refsum disease. (PMID: 12522768) van den Brink DM … Wanders RJ (American journal of human genetics 2003) 3 4 22 58
  4. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. (PMID: 9090383) Purdue PE … Lazarow PB (Nature genetics 1997) 3 4 22 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for PEX7 Gene

Sources for PEX7 Gene

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