About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:5625248-5641299 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 1.96 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    552 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107486
 protein coding gene Chr3:5625248-5643655 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027046
 protein coding gene Chr3:2330180-2348013 (-)
A/J MGP_AJ_G0027010
 protein coding gene Chr3:2686805-2704046 (-)
AKR/J MGP_AKRJ_G0026980
 protein coding gene Chr3:2483661-2499699 (-)
BALB/cJ MGP_BALBcJ_G0027019
 protein coding gene Chr3:2406463-2422511 (-)
C3H/HeJ MGP_C3HHeJ_G0026759
 protein coding gene Chr3:2712698-2728746 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027464
 protein coding gene Chr3:2799044-2820088 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024826
 protein coding gene Chr3:2011480-2027509 (-)
CAST/EiJ MGP_CASTEiJ_G0026218
 protein coding gene Chr3:2785630-2804530 (-)
CBA/J MGP_CBAJ_G0026738
 protein coding gene Chr3:2546720-2562800 (-)
DBA/2J MGP_DBA2J_G0026873
 protein coding gene Chr3:2296570-2312612 (-)
FVB/NJ MGP_FVBNJ_G0026840
 protein coding gene Chr3:2238174-2254528 (-)
LP/J MGP_LPJ_G0026984
 protein coding gene Chr3:2853944-2870044 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026860
 protein coding gene Chr3:3201782-3218235 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027523
 protein coding gene Chr3:2290276-2309243 (-)
PWK/PhJ MGP_PWKPhJ_G0025953
 protein coding gene Chr3:2564524-2580844 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025755
 protein coding gene Chr3:2468690-2499428 (-)
WSB/EiJ MGP_WSBEiJ_G0026289
 protein coding gene Chr3:2326742-2343452 (-)



Homology
more
  • Human Ortholog
    PEX2, peroxisomal biogenesis factor 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PEX2, peroxisomal biogenesis factor 2
  • Synonyms
    PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3
  • Links
    NCBI Gene ID: 5828
    neXtProt AC: NX_P28328
    UniProt: P28328

  • Chr Location
    8q21.13; chr8:76980258-77001044 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human PEX2 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    41 phenotypes from 1 allele in 2 genetic backgrounds
    4 images
    14 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.
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
less
  • All GO Annotations
    35
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    746
  • Tissues
    37
  • cDNA Data
    10
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040374 Ensembl Gene Model | MGI Sequence Detail 16052 C57BL/6J ±  kb
    transcript ENSMUST00000191916 Ensembl | MGI Sequence Detail 1376 Not Applicable  
    polypeptide ENSMUSP00000141945 Ensembl | MGI Sequence Detail 305 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      Genomic 1
      cDNA 11
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-36054, MGI:1098626
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 7
      Gene Ontology 10
      Phenotypes 14
    • 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:353038 Pinelli M, et al., Peroxisomal cholesterol metabolism regulates yap-signaling, which maintains intestinal epithelial barrier function and is altered in Crohn's disease. Cell Death Dis. 2024 Jul 28;15(7):536
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory