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    Pex2 peroxisomal biogenesis factor 2 [ Mus musculus (house mouse) ]

    Gene ID: 19302, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Pex2provided by MGI
    Official Full Name
    peroxisomal biogenesis factor 2provided by MGI
    Primary source
    MGI:MGI:107486
    See related
    Ensembl:ENSMUSG00000040374 AllianceGenome:MGI:107486
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PAF-1; PMP35; Pxmp3; D3Ertd138e
    Summary
    Predicted to enable metal ion binding activity. Acts upstream of or within several processes, including bile acid biosynthetic process; cholesterol homeostasis; and regulation of cholesterol biosynthetic process. Predicted to be located in peroxisomal membrane. Predicted to be integral component of peroxisomal membrane. Predicted to be part of Cdc73/Paf1 complex. Is expressed in several structures, including brain and genitourinary system. Human ortholog(s) of this gene implicated in peroxisomal biogenesis disorder and peroxisome biogenesis disorder 5A. Orthologous to human PEX2 (peroxisomal biogenesis factor 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bladder adult (RPKM 7.6), CNS E11.5 (RPKM 7.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pex2 in Genome Data Viewer
    Location:
    3 A1; 3 1.96 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (5625248..5643655, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (5560188..5578596, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 2700069I18 gene Neighboring gene zinc finger homeodomain 4 Neighboring gene VISTA enhancer mm1577 Neighboring gene VISTA enhancer mm1541 Neighboring gene RIKEN cDNA 4930555M17 gene Neighboring gene STARR-seq mESC enhancer starr_06806 Neighboring gene ubiquitin B pseudogene Neighboring gene STARR-seq mESC enhancer starr_06809 Neighboring gene STARR-seq mESC enhancer starr_06810 Neighboring gene STARR-seq mESC enhancer starr_06812 Neighboring gene STARR-seq mESC enhancer starr_06813 Neighboring gene predicted gene, 46796

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The peroxisome deficient PEX2 Zellweger mouse: pathologic and biochemical correlates of lipid dysfunction. Faust PL, et al. J Mol Neurosci, 2001 Apr-Jun. PMID 11478384
    2. Structure and expression of mammalian peroxisome assembly factor-1 (PMP35) genes. Wilson GN, et al. Biochem Med Metab Biol, 1994 Apr. PMID 8043297
    3. Zellweger syndrome knockout mouse models challenge putative peroxisomal beta-oxidation involvement in docosahexaenoic acid (22:6n-3) biosynthesis. Infante JP, et al. Mol Genet Metab, 2001 Jan. PMID 11161822
    4. Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder. Faust PL, et al. J Cell Biol, 1997 Dec 1. PMID 9382874, Free PMC Article
    5. PEX2 is the E3 ubiquitin ligase required for pexophagy during starvation. Sargent G, et al. J Cell Biol, 2016 Sep 12. PMID 27597759, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PEX2 is required for peroxisome autophagy during starvation.
      Title: PEX2 is the E3 ubiquitin ligase required for pexophagy during starvation.
    2. Data indicate that the induction of SREBP-2 and ER stress pathways is independent of PPARalpha activation in livers of newborn peroxisome assembly factor 1 (Pex2) knockout mice.
      Title: Peroxisome deficiency-induced ER stress and SREBP-2 pathway activation in the liver of newborn PEX2 knock-out mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within bile acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to reactive oxygen species ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid beta-oxidation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of epithelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of fibroblast proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in peroxisome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in peroxisome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in pexophagy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein destabilization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein import into peroxisome matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein import into peroxisome matrix, receptor recycling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein monoubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to amino acid starvation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in very long-chain fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in very long-chain fatty acid metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of Cdc73/Paf1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cdc73/Paf1 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in peroxisomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    peroxisome biogenesis factor 2
    Names
    Zellweger syndrome homolog
    peroxin-2
    peroxisomal membrane protein 3, 35 kDa
    peroxisome assembly factor 1
    NP_001156773.1
    NP_001156774.1
    NP_001156777.1
    NP_001156778.1
    NP_001254643.1
    NP_001254644.1
    NP_033020.2
    XP_006530121.1
    XP_006530122.1
    XP_011246442.1
    XP_017174994.1
    XP_030108329.1
    XP_030108330.1
    XP_030108331.1
    XP_030108332.1
    XP_030108335.1
    XP_036018855.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001163301.2 → NP_001156773.1  peroxisome biogenesis factor 2

      See identical proteins and their annotated locations for NP_001156773.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AF031128, BB693393, CX241668
      Consensus CDS
      CCDS17228.1
      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Related
      ENSMUSP00000059415.5, ENSMUST00000059021.10
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    2. NM_001163302.2 → NP_001156774.1  peroxisome biogenesis factor 2

      See identical proteins and their annotated locations for NP_001156774.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AF031128, BB693393, CX241668
      Consensus CDS
      CCDS17228.1
      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    3. NM_001163305.2 → NP_001156777.1  peroxisome biogenesis factor 2

      See identical proteins and their annotated locations for NP_001156777.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC119876, BB693393, CX231604, CX241668
      Consensus CDS
      CCDS17228.1
      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Related
      ENSMUSP00000129311.2, ENSMUST00000164828.8
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    4. NM_001163306.2 → NP_001156778.1  peroxisome biogenesis factor 2

      See identical proteins and their annotated locations for NP_001156778.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC119876
      Consensus CDS
      CCDS17228.1
      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    5. NM_001267714.1 → NP_001254643.1  peroxisome biogenesis factor 2

      See identical proteins and their annotated locations for NP_001254643.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. All four transcript variants encode the same protein.
      Source sequence(s)
      AK151121, BB693393, CX241668
      Consensus CDS
      CCDS17228.1
      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Related
      ENSMUSP00000141927.2, ENSMUST00000195855.6
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    6. NM_001267715.1 → NP_001254644.1  peroxisome biogenesis factor 2

      See identical proteins and their annotated locations for NP_001254644.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. All four transcript variants encode the same protein.
      Source sequence(s)
      AC119876
      Consensus CDS
      CCDS17228.1
      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Related
      ENSMUSP00000141945.2, ENSMUST00000191916.6
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    7. NM_008994.4 → NP_033020.2  peroxisome biogenesis factor 2

      See identical proteins and their annotated locations for NP_033020.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All seven variants encode the same protein.
      Source sequence(s)
      AC119876
      Consensus CDS
      CCDS17228.1
      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Related
      ENSMUSP00000071255.6, ENSMUST00000071280.8
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      5625248..5643655 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017319505.3 → XP_017174994.1  peroxisome biogenesis factor 2 isoform X1

      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    2. XM_006530058.5 → XP_006530121.1  peroxisome biogenesis factor 2 isoform X1

      See identical proteins and their annotated locations for XP_006530121.1

      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    3. XM_030252471.2 → XP_030108331.1  peroxisome biogenesis factor 2 isoform X1

      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Related
      ENSMUSP00000126445.2, ENSMUST00000165309.8
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    4. XM_030252475.2 → XP_030108335.1  peroxisome biogenesis factor 2 isoform X1

      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    5. XM_011248140.4 → XP_011246442.1  peroxisome biogenesis factor 2 isoform X1

      See identical proteins and their annotated locations for XP_011246442.1

      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    6. XM_030252469.2 → XP_030108329.1  peroxisome biogenesis factor 2 isoform X1

      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    7. XM_006530059.4 → XP_006530122.1  peroxisome biogenesis factor 2 isoform X1

      See identical proteins and their annotated locations for XP_006530122.1

      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    8. XM_030252472.2 → XP_030108332.1  peroxisome biogenesis factor 2 isoform X1

      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    9. XM_030252470.2 → XP_030108330.1  peroxisome biogenesis factor 2 isoform X1

      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    10. XM_036162962.1 → XP_036018855.1  peroxisome biogenesis factor 2 isoform X1

      UniProtKB/TrEMBL
      Q3UJB7, Q91YZ5
      Conserved Domains (2) summary
      cd16526
      Location:243 → 284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27 → 224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001163304.1: Suppressed sequence

      Description
      NM_001163304.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55098.1 GenPept UniProtKB/Swiss-Prot:P55098

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