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Aliases for PEX2 Gene

Aliases for PEX2 Gene

  • Peroxisomal Biogenesis Factor 2 2 3 5
  • Peroxisomal Membrane Protein 3, 35kDa 2 3
  • 35 KDa Peroxisomal Membrane Protein 3 4
  • Peroxisome Assembly Factor 1 3 4
  • RING Finger Protein 72 3 4
  • PXMP3 3 4
  • PMP35 3 4
  • RNF72 3 4
  • PAF1 3 4
  • PMP3 3 4
  • Peroxisomal Membrane Protein 3 (35kD, Zellweger Syndrome) 2
  • Peroxisome Biogenesis Factor 2 3
  • Peroxisomal Membrane Protein 3 4
  • Zellweger Syndrome 2
  • Peroxin-2 4
  • Peroxin 2 2
  • PBD5A 3
  • PBD5B 3
  • PAF-1 4
  • ZWS3 3

External Ids for PEX2 Gene

Previous HGNC Symbols for PEX2 Gene

  • PXMP3

Previous GeneCards Identifiers for PEX2 Gene

  • GC08M077892
  • GC08M073378

Summaries for PEX2 Gene

Entrez Gene Summary for PEX2 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]

GeneCards Summary for PEX2 Gene

PEX2 (Peroxisomal Biogenesis Factor 2) is a Protein Coding gene. Diseases associated with PEX2 include Peroxisome Biogenesis Disorder 5B and Peroxisome Biogenesis Disorder 5A. Among its related pathways are Peroxisome.

UniProtKB/Swiss-Prot for PEX2 Gene

  • Somewhat implicated in the biogenesis of peroxisomes.

Gene Wiki entry for PEX2 Gene

Additional gene information for PEX2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX2 Gene

Genomics for PEX2 Gene

GeneHancer (GH) Regulatory Elements for PEX2 Gene

Promoters and enhancers for PEX2 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
GH08J076997 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 662.8 +1.3 1297 3.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 PEX2 GC08P076982
GH08J076992 Enhancer 0.8 ENCODE dbSUPER 4.6 +8.0 7979 0.2 MEIS2 PKNOX1 TEAD4 TAL1 CBFA2T3 DPF2 EP300 TCF12 NCOR1 POLR2A PEX2 GC08P076982
GH08J076988 Enhancer 0.2 ENCODE 13.7 +11.8 11776 0.9 PEX2 GC08P076982
GH08J076985 Enhancer 1 ENCODE dbSUPER 0.4 +14.5 14499 2.3 PKNOX1 STAT5A BMI1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 GC08P076982 PEX2
GH08J076990 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.4 +9.4 9404 1.6 ZFHX2 PKNOX1 ZNF18 EGR2 PEX2 GC08P076982
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEX2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PEX2 Gene

Genomic Locations for PEX2 Gene
20,787 bases
Minus strand
20,787 bases
Minus strand

Genomic View for PEX2 Gene

Genes around PEX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX2 Gene

Proteins for PEX2 Gene

  • Protein details for PEX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Peroxisome biogenesis factor 2
    Protein Accession:
    Secondary Accessions:
    • Q567S6
    • Q9BW41

    Protein attributes for PEX2 Gene

    305 amino acids
    Molecular mass:
    34843 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PEX2 Gene

Post-translational modifications for PEX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PEX2 Gene

Domains & Families for PEX2 Gene

Gene Families for PEX2 Gene

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

Suggested Antigen Peptide Sequences for PEX2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the pex2/pex10/pex12 family.
  • Belongs to the pex2/pex10/pex12 family.
genes like me logo Genes that share domains with PEX2: view

Function for PEX2 Gene

Molecular function for PEX2 Gene

UniProtKB/Swiss-Prot Function:
Somewhat implicated in the biogenesis of peroxisomes.

Phenotypes From GWAS Catalog for PEX2 Gene

Gene Ontology (GO) - Molecular Function for PEX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10837480
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity EXP 18359941
genes like me logo Genes that share ontologies with PEX2: view
genes like me logo Genes that share phenotypes with PEX2: view

Human Phenotype Ontology for PEX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX2 Gene

MGI Knock Outs for PEX2:

Animal Model Products

miRNA for PEX2 Gene

miRTarBase miRNAs that target PEX2

Clone Products

  • Addgene plasmids for PEX2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX2 Gene

Localization for PEX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX2 Gene

Peroxisome membrane; Multi-pass membrane protein.

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 PEX2 gene
Compartment Confidence
peroxisome 5
nucleus 5
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PEX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IEA --
GO:0005778 peroxisomal membrane TAS --
GO:0005779 integral component of peroxisomal membrane IMP 12751901
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PEX2: view

Pathways & Interactions for PEX2 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX2: view

Pathways by source for PEX2 Gene

1 KEGG pathway for PEX2 Gene

Gene Ontology (GO) - Biological Process for PEX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process IMP 9765053
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 18987311
GO:0006635 fatty acid beta-oxidation IMP 9765053
GO:0007031 peroxisome organization IMP 1546315
GO:0016558 protein import into peroxisome matrix IMP 10528859
genes like me logo Genes that share ontologies with PEX2: view

No data available for SIGNOR curated interactions for PEX2 Gene

Drugs & Compounds for PEX2 Gene

(1) Drugs for PEX2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PEX2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PEX2: view

Transcripts for PEX2 Gene

mRNA/cDNA for PEX2 Gene

Unigene Clusters for PEX2 Gene

Peroxisomal biogenesis factor 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for PEX2

Alternative Splicing Database (ASD) splice patterns (SP) for PEX2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d
SP1: - -
SP2: - -
SP4: - - - -
SP5: - - -

Relevant External Links for PEX2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PEX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX2 Gene

This gene is overexpressed in Heart (42.6), Retina (14.8), and Fetal Liver (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX2 Gene

Protein tissue co-expression partners for PEX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PEX2 Gene:


SOURCE GeneReport for Unigene cluster for PEX2 Gene:


Evidence on tissue expression from TISSUES for PEX2 Gene

  • Kidney(4.3)
  • Liver(4.2)
  • Nervous system(3.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • scalp
  • skull
  • tongue
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • ovary
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • uterus
  • vagina
  • 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
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PEX2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PEX2 Gene

Orthologs for PEX2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PEX2 34 33
  • 99.45 (n)
(Canis familiaris)
Mammalia PEX2 34 33
  • 88.09 (n)
(Mus musculus)
Mammalia Pex2 16 34 33
  • 86.67 (n)
(Rattus norvegicus)
Mammalia Pex2 33
  • 85.36 (n)
(Bos Taurus)
Mammalia PEX2 34 33
  • 83.66 (n)
(Monodelphis domestica)
Mammalia PEX2 34
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia PEX2 34
  • 41 (a)
(Gallus gallus)
Aves PEX2 34 33
  • 73.25 (n)
(Anolis carolinensis)
Reptilia PEX2 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pex2 33
  • 67.43 (n)
(Danio rerio)
Actinopterygii pex2 34 33
  • 60.34 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pex2 34 33
  • 44.8 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010836 33
  • 43.95 (n)
(Caenorhabditis elegans)
Secernentea prx-2 34
  • 25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TED3 33
  • 45.82 (n)
(Oryza sativa)
Liliopsida Os05g0275700 33
  • 46.79 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02070 33
  • 41.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
Species where no ortholog for PEX2 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)

Evolution for PEX2 Gene

Gene Tree for PEX2 (if available)
Gene Tree for PEX2 (if available)
Evolutionary constrained regions (ECRs) for PEX2: view image

Paralogs for PEX2 Gene

(1) SIMAP similar genes for PEX2 Gene using alignment to 2 proteins:

  • E5RIW9_HUMAN Pseudogenes for PEX2 Gene

genes like me logo Genes that share paralogs with PEX2: view

No data available for Paralogs for PEX2 Gene

Variants for PEX2 Gene

Sequence variations from dbSNP and Humsavar for PEX2 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1002540220 uncertain-significance, Zellweger syndrome 76,983,224(-) G/A/T 3_prime_UTR_variant
rs10108054 likely-benign, Zellweger syndrome 76,982,120(-) C/T 3_prime_UTR_variant
rs1016306006 uncertain-significance, Zellweger syndrome 76,980,743(-) G/A 3_prime_UTR_variant
rs112108739 benign, likely-benign, not specified, Zellweger syndrome, Peroxisome biogenesis disorder 5a (zellweger) 76,983,446(-) C/G/T coding_sequence_variant, missense_variant
rs112199677 likely-benign, Zellweger syndrome 76,981,565(-) G/A 3_prime_UTR_variant

Variation tolerance for PEX2 Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEX2 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 and Structural Variations from Database of Genomic Variants (DGV) for PEX2 Gene

Disorders for PEX2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PEX2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 5b
  • pbd5b
peroxisome biogenesis disorder 5a
  • pbd5a
zellweger spectrum disorder
  • cerebrohepatorenal syndrome
peroxisome biogenesis disorder 1b
  • pbd1b
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
- elite association - COSMIC cancer census association via MalaCards
Search PEX2 in MalaCards View complete list of genes associated with diseases


  • Peroxisome biogenesis disorder complementation group 5 (PBD-CG5) [MIM:614866]: 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.
  • Peroxisome biogenesis disorder 5A (PBD5A) [MIM:614866]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:1546315}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 5B (PBD5B) [MIM:614867]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269 PubMed:10528859}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PEX2

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 PEX2: view

No data available for Genatlas for PEX2 Gene

Publications for PEX2 Gene

  1. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. (PMID: 1546315) Shimozawa N … Fujiki Y (Science (New York, N.Y.) 1992) 2 3 4 22 58
  2. Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein. (PMID: 10891359) Biermanns M … Gärtner J (Biochemical and biophysical research communications 2000) 3 4 22 58
  3. Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. (PMID: 10528859) Shimozawa N … Kondo N (Journal of medical genetics 1999) 3 4 22 58
  4. Ring finger in the peroxisome assembly factor-1. (PMID: 1426230) Patarca R … Fletcher MA (FEBS letters 1992) 3 4 22 58
  5. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat BE … Tseng ZH (BMC cardiovascular disorders 2011) 3 44 58

Products for PEX2 Gene

  • Addgene plasmids for PEX2

Sources for PEX2 Gene

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