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Aliases for PEX3 Gene

Aliases for PEX3 Gene

  • Peroxisomal Biogenesis Factor 3 2 3 3 5
  • Peroxisomal Assembly Protein PEX3 3 4
  • Peroxin-3 3 4
  • Transformation-Related Protein 18 3
  • PBD10A 3
  • PBD10B 3
  • TRG18 3

External Ids for PEX3 Gene

Previous GeneCards Identifiers for PEX3 Gene

  • GC06P143395
  • GC06P143619
  • GC06P143752
  • GC06P143813
  • GC06P143772
  • GC06P141335

Summaries for PEX3 Gene

Entrez Gene Summary for PEX3 Gene

  • The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. 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 Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

GeneCards Summary for PEX3 Gene

PEX3 (Peroxisomal Biogenesis Factor 3) is a Protein Coding gene. Diseases associated with PEX3 include Peroxisome Biogenesis Disorder 10B and Peroxisome Biogenesis Disorder 10A. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include protein dimerization activity and amino acid transmembrane transporter activity.

UniProtKB/Swiss-Prot for PEX3 Gene

  • Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes.

Gene Wiki entry for PEX3 Gene

Additional gene information for PEX3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX3 Gene

Genomics for PEX3 Gene

GeneHancer (GH) Regulatory Elements for PEX3 Gene

Promoters and enhancers for PEX3 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
GH06J143449 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 655.9 -0.1 -75 3 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ADAT2 PEX3 RNA5SP221 LTV1 ENSG00000270890 VDAC1P8 PLAGL1 TUBB8P2 ENSG00000225752
GH06J142819 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -629.6 -629640 4.7 HDGF PKNOX1 SMAD1 YBX1 IRF4 ZNF143 ZNF207 ATF7 RUNX3 ZNF202 VDAC1P8 ADAT2 PEX3 ADGRG6 HIVEP2 ENSG00000237851 ENSG00000232618
GH06J143288 Enhancer 0.3 ENCODE 4.6 -162.0 -161994 1.5 NANOG PEX3 ENSG00000217495 ENSG00000225752 AIG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEX3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PEX3 gene promoter:
  • FOXO3b
  • FOXO3a
  • FOXO3
  • NF-kappaB1
  • LCR-F1
  • HFH-1
  • GATA-1
  • Sox5
  • GR-beta
  • GR

Genomic Locations for PEX3 Gene

Genomic Locations for PEX3 Gene
39,836 bases
Plus strand
39,836 bases
Plus strand

Genomic View for PEX3 Gene

Genes around PEX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX3 Gene

Proteins for PEX3 Gene

  • Protein details for PEX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Peroxisomal biogenesis factor 3
    Protein Accession:
    Secondary Accessions:
    • Q6FGP5

    Protein attributes for PEX3 Gene

    373 amino acids
    Molecular mass:
    42140 Da
    Quaternary structure:
    • Interacts with PEX19.

    Three dimensional structures from OCA and Proteopedia for PEX3 Gene

neXtProt entry for PEX3 Gene

Post-translational modifications for PEX3 Gene

  • Ubiquitination at Lys262 and Lys100
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PEX3 Gene

Domains & Families for PEX3 Gene

Gene Families for PEX3 Gene

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

Protein Domains for PEX3 Gene


Suggested Antigen Peptide Sequences for PEX3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peroxin-3 family.
  • Belongs to the peroxin-3 family.
genes like me logo Genes that share domains with PEX3: view

Function for PEX3 Gene

Molecular function for PEX3 Gene

UniProtKB/Swiss-Prot Function:
Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes.
GENATLAS Biochemistry:
peroxin 3,peroxisomal biogenesis factor 3

Gene Ontology (GO) - Molecular Function for PEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10704444
GO:0008289 lipid binding IDA 19715730
GO:0046983 protein dimerization activity IDA 19715730
genes like me logo Genes that share ontologies with PEX3: view
genes like me logo Genes that share phenotypes with PEX3: view

Human Phenotype Ontology for PEX3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX3 Gene

MGI Knock Outs for PEX3:
  • Pex3 Pex3<tm1a(EUCOMM)Wtsi>

Animal Model Products

Clone Products

  • Addgene plasmids for PEX3

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PEX3 Gene

Localization for PEX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX3 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 PEX3 gene
Compartment Confidence
peroxisome 5
nucleus 5
endoplasmic reticulum 5
cytosol 3
mitochondrion 2
plasma membrane 1
extracellular 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005777 peroxisome IMP 12924628
GO:0005778 peroxisomal membrane TAS --
GO:0005779 integral component of peroxisomal membrane IDA 9657383
GO:0005783 endoplasmic reticulum IDA 19479899
genes like me logo Genes that share ontologies with PEX3: view

Pathways & Interactions for PEX3 Gene

genes like me logo Genes that share pathways with PEX3: view

Pathways by source for PEX3 Gene

Gene Ontology (GO) - Biological Process for PEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007031 peroxisome organization IMP 10958759
GO:0016557 peroxisome membrane biogenesis IEA --
GO:0045046 protein import into peroxisome membrane IMP 15007061
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with PEX3: view

No data available for SIGNOR curated interactions for PEX3 Gene

Drugs & Compounds for PEX3 Gene

No Compound Related Data Available

Transcripts for PEX3 Gene

mRNA/cDNA for PEX3 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(140) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PEX3 Gene

Peroxisomal biogenesis factor 3:
Representative Sequences:

Clone Products

  • Addgene plasmids for PEX3

Alternative Splicing Database (ASD) splice patterns (SP) for PEX3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2: -
SP3: - -

Relevant External Links for PEX3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PEX3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEX3 Gene

mRNA differential expression in normal tissues according to GTEx for PEX3 Gene

This gene is overexpressed in Adrenal Gland (x4.1).

Protein differential expression in normal tissues from HIPED for PEX3 Gene

This gene is overexpressed in Breast (31.4) and Bone (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX3 Gene

Protein tissue co-expression partners for PEX3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PEX3 Gene:


SOURCE GeneReport for Unigene cluster for PEX3 Gene:


mRNA Expression by UniProt/SwissProt for PEX3 Gene:

Tissue specificity: Found in all examined tissues.

Evidence on tissue expression from TISSUES for PEX3 Gene

  • Liver(4.3)
  • Skin(4.2)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX3 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 PEX3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PEX3 Gene

Orthologs for PEX3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PEX3 34 33
  • 99.82 (n)
(Bos Taurus)
Mammalia PEX3 34 33
  • 93.48 (n)
(Canis familiaris)
Mammalia PEX3 34 33
  • 92.94 (n)
(Monodelphis domestica)
Mammalia PEX3 34
  • 92 (a)
(Mus musculus)
Mammalia Pex3 16 34 33
  • 88.89 (n)
(Ornithorhynchus anatinus)
Mammalia PEX3 34
  • 88 (a)
(Rattus norvegicus)
Mammalia Pex3 33
  • 87.46 (n)
(Gallus gallus)
Aves PEX3 34 33
  • 79.77 (n)
(Anolis carolinensis)
Reptilia PEX3 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pex3 33
  • 71.75 (n)
Str.3981 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.11335 33
(Danio rerio)
Actinopterygii pex3 34 33
  • 69.91 (n)
zgc56313 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10419 33
fruit fly
(Drosophila melanogaster)
Insecta Pex3 34 33
  • 47.35 (n)
CG6859 35
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002507 33
  • 44.64 (n)
(Caenorhabditis elegans)
Secernentea prx-3 34
  • 24 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E16963g 33
  • 46.67 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX3 33
  • 42.09 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR296C 33
  • 38.87 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PEX3-1 33
  • 45.22 (n)
(Oryza sativa)
Liliopsida Os09g0314300 33
  • 45.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06175 33
  • 42.19 (n)
Species where no ortholog for PEX3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PEX3 Gene

Gene Tree for PEX3 (if available)
Gene Tree for PEX3 (if available)
Evolutionary constrained regions (ECRs) for PEX3: view image

Paralogs for PEX3 Gene

No data available for Paralogs for PEX3 Gene

Variants for PEX3 Gene

Sequence variations from dbSNP and Humsavar for PEX3 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1019355958 uncertain-significance, Zellweger syndrome 143,490,558(+) A/G 3_prime_UTR_variant
rs1025039973 uncertain-significance, Zellweger syndrome 143,489,903(+) C/T 3_prime_UTR_variant
rs1043719778 uncertain-significance, Zellweger syndrome 143,450,829(+) G/C 5_prime_UTR_variant
rs1055017221 uncertain-significance, Zellweger syndrome 143,489,799(+) A/G 3_prime_UTR_variant
rs1057523689 pathogenic, Peroxisome biogenesis disorder 10b 143,485,201(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PEX3 Gene

Variant ID Type Subtype PubMed ID
nsv965776 CNV duplication 23825009

Variation tolerance for PEX3 Gene

Residual Variation Intolerance Score: 22.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEX3 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 PEX3 Gene

Disorders for PEX3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for PEX3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PEX3 in MalaCards View complete list of genes associated with diseases


  • Peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:614882]: 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). {ECO:0000269 PubMed:10958759}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882]: 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:10848631, ECO:0000269 PubMed:10958759}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 10B (PBD10B) [MIM:617370]: A moderately severe peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD10B is characterized by neonatal jaundice, dysmorphic features, delayed psychomotor development, axial hypotonia that can progress to severe spastic paraparesis with hyperreflexia, nephrocalcinosis, neurogenic bladder, nystagmus, and cataracts. Laboratory studies show increased levels of very long-chain fatty acids. Inheritance is autosomal recessive. {ECO:0000269 PubMed:27557811}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PEX3

genes like me logo Genes that share disorders with PEX3: view

No data available for Genatlas for PEX3 Gene

Publications for PEX3 Gene

  1. PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins. (PMID: 15007061) Fang Y … Gould SJ (The Journal of cell biology 2004) 3 4 22 58
  2. Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. (PMID: 10958759) Muntau AC … Roscher AA (American journal of human genetics 2000) 3 4 22 58
  3. The peroxin pex3p initiates membrane assembly in peroxisome biogenesis. (PMID: 10848631) Ghaedi K … Fujiki Y (Molecular biology of the cell 2000) 3 4 22 58
  4. The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes. (PMID: 10679269) Muntau AC … Kammerer S (Biochemical and biophysical research communications 2000) 3 4 22 58
  5. Identification and characterization of the human peroxin PEX3. (PMID: 10430017) Soukupova M … Dodt G (European journal of cell biology 1999) 3 4 22 58

Products for PEX3 Gene

Sources for PEX3 Gene

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