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Pex2 Gene Detail
Summary
  • Symbol
    Pex2
  • Name
    peroxisomal biogenesis factor 2
  • Synonyms
    D3Ertd138e, PMP35, Pxmp3, Zellweger syndrome homolog
  • Feature Type
    protein coding gene
  • IDs
    MGI:107486
    NCBI Gene: 19302
  • Gene Overview
    MyGene.info: PEX2
Location & Maps
more
  • Genetic Map
    Chromosome 3, 1.96 cM
  • Mapping Data
    2 experiments
Homology
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  • Human Ortholog
    PEX2, peroxisomal biogenesis factor 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PEX2, peroxisomal biogenesis factor 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3
  • Links
    NCBI Gene ID: 5828
    neXtProt AC: NX_P28328

  • Chr Location
    8q21.1; chr8:76980258-77001044 (-)  GRCh38.p2

Human Diseases
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  • Diseases
    1 with Pex2 mouse models; 2 with human PEX2 associations

Human Disease Mouse Models
       Peroxisome Biogenesis Disorder 5a (zellweger); PBD5A   OMIM: 614866 View 2 models
       Peroxisome Biogenesis Disorder 5b; PBD5B   OMIM: 614867
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 1 allele in 2 genetic backgrounds
    4 images
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    1
  • Targeted
    1
  • Incidental Mutations
    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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000051256 VEGA Gene Model | MGI Sequence Detail 15741 C57BL/6J ±  kb
transcript OTTMUST00000129770 VEGA | MGI Sequence Detail 1587 Not Applicable  
polypeptide OTTMUSP00000069666 VEGA | MGI Sequence Detail 305 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    145 from dbSNP Build 142
Protein
Information
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Molecular
Reagents
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  • All nucleic 12
    Genomic 1
    cDNA 10
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-36054, MGI:1098626
References
more
  • Summaries
    All 40
    Developmental Gene Expression 6
    Diseases 3
    Gene Ontology 6
    Phenotypes 7
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory