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Gene Detail
peroxisomal biogenesis factor 2
Synonyms D3Ertd138e, PMP35, Pxmp3, Zellweger syndrome homolog
Feature Type protein coding gene
Genetic Map
Chromosome 3
1.96 cM
Detailed Genetic Map ± 1 cM

Mapping data(2)
Sequence Map
Chr3:5560188-5576239 bp, - strand
From NCBI annotation of GRCm38

  16052 bp   ±  kb flank

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Mouse Genome Browser
HomoloGene:269  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: peroxisome assembly factor-1
Gene Tree: Pex2

Human Homolog PEX2, peroxisomal biogenesis factor 2
NCBI Gene ID 5828
neXtProt AC  NX_P28328
Human Synonyms  PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3
Human Chr (Location)  8q21.1; chr8:76980258-77001044 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human PEX2
alleles, and
All mutations/alleles(1) : Targeted(1)
Incidental mutations (data from APF )
Mice homozygous for disruptions in this gene die sometime before weaning. Various abnormalities are seen in the central nervous system depending on the genetic background.
Human Diseases Modeled Using Mouse Pex2 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(4)
Pex2 interacts with 127 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
All GO classifications: (24 annotations)
Process bile acid biosynthetic process, cholesterol homeostasis, ...
Component Cdc73/Paf1 complex, integral component of membrane, ...
Function metal ion binding, zinc ion binding
External Resources: FuncBase
Literature Summary: (6 records)
Data Summary: Results (39)    Tissues (36)    Images (6)
Theiler Stages: 16, 17, 20, 21, 22, 23, 26, 27, 28
Assay TypeResults
RNA in situ 31
Northern blot 8
cDNA source data(9)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(12) Genomic(1) cDNA(10) Primer pair(1)
Microarray probesets(3)
Other database
Ensembl Gene ModelENSMUSG00000040374 (Evidence)
Entrez Gene19302 (Evidence)
DFCITC1578084, TC1594035, TC1637237, TC1684370
DoTSDT.489156, DT.91342253, DT.94215493, DT.94312640, DT.94312648
NIA Mouse Gene IndexU023806
Consensus CDS ProjectCCDS17228.1
International Mouse Knockout Project StatusPex2
Representative SequencesLengthStrain/SpeciesFlank
genomic 19302 NCBI Gene Model | MGI Sequence Detail 16052 C57BL/6J ±  kb
transcript NM_008994 RefSeq | MGI Sequence Detail 2213 C57BL/6 
polypeptide P55098 UniProt | EBI | MGI Sequence Detail 305 Not Applicable 

For the selected sequences
All sequences(57) RefSeq(21) UniProt(3)
Polymorphisms SNPs within 2kb(142 from dbSNP Build 137)
InterPro IPR006845 Pex, N-terminal
InterPro IPR018957 Zinc finger, C3HC4 RING-type
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
InterPro IPR001841 Zinc finger, RING-type
InterPro IPR017907 Zinc finger, RING-type, conserved site
Protein Ontology PR:000013510 peroxisome assembly factor 1
Graphical View of Protein Domain Structure
References (Earliest) J:47868 Shimozawa N, et al., A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science. 1992 Feb 28;255(5048):1132-4
(Latest) J:185169 Kovacs WJ, et al., Peroxisome deficiency-induced ER stress and SREBP-2 pathway activation in the liver of newborn PEX2 knock-out mice. Biochim Biophys Acta. 2012 Jun;1821(6):895-907
All references(43)
Disease annotation references (3)
accession IDs
MGD-MRK-36054, MGI:1098626

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.19
The Jackson Laboratory