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Pex2
Gene Detail
Symbol

Name
ID
Pex2
peroxisomal biogenesis factor 2
MGI:107486
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
Chr3:5560499-5576239 bp, - strand
From VEGA annotation of GRCm38

  15741 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
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

HCOP human homology predictions: PEX2
Protein SuperFamily: peroxisome assembly factor-1
Gene Tree: Pex2

Human
homologs
PEX2, peroxisomal biogenesis factor 2
Orthology source: HomoloGene, HGNC

IDs:
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.p2

Disease Associations: (2) Diseases Associated with Human PEX2

Mutations,
alleles, and
phenotypes
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 in Mice Using Pex2 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(4)
Interactions
Pex2 interacts with 127 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process bile acid biosynthetic process, cholesterol homeostasis, ...
Component Cdc73/Paf1 complex, integral component of membrane, ...
Function metal ion binding, ubiquitin-protein transferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (39)    Tissues (36)    Images (6)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 31
Northern blot 8
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pex2    NEW 
Molecular
reagents
All nucleic(12) Genomic(1) cDNA(10) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000051256 (Evidence)
Ensembl Gene Model ENSMUSG00000040374 (Evidence)
Entrez Gene 19302 (Evidence)
DFCI TC1637237, TC1594035, TC1578084, TC1684370
DoTS DT.94215493, DT.91342253, DT.489156, DT.94312640, DT.94312648
NIA Mouse Gene Index U023806
Consensus CDS Project CCDS17228.1
International Mouse Phenotyping Consortium Status Pex2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000051256 VEGA Gene Model | MGI Sequence Detail 15741 C57BL/6J ±  kb
transcript OTTMUST00000129814 VEGA | MGI Sequence Detail 1376 Not Applicable 
polypeptide OTTMUSP00000069672 VEGA | MGI Sequence Detail 305 Not Applicable 

For the selected sequences
All sequences(70) RefSeq(21) UniProt(3)
Polymorphisms
SNPs within 2kb(141 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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
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(44)
Disease annotation references (3)
Other
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
Citing These Resources
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory