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

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

Summary

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
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Genomic context

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

Expression

  • 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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001163301.2NP_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:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  2. NM_001163302.2NP_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:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  3. NM_001163305.2NP_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:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  4. NM_001163306.2NP_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:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  5. NM_001267714.1NP_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:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  6. NM_001267715.1NP_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:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  7. NM_008994.4NP_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:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    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_017319505.3XP_017174994.1  peroxisome biogenesis factor 2 isoform X1

    UniProtKB/TrEMBL
    Q3UJB7, Q91YZ5
    Conserved Domains (2) summary
    cd16526
    Location:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  2. XM_006530058.5XP_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:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  3. XM_030252471.2XP_030108331.1  peroxisome biogenesis factor 2 isoform X1

    UniProtKB/TrEMBL
    Q3UJB7, Q91YZ5
    Related
    ENSMUSP00000126445.2, ENSMUST00000165309.8
    Conserved Domains (2) summary
    cd16526
    Location:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  4. XM_030252475.2XP_030108335.1  peroxisome biogenesis factor 2 isoform X1

    UniProtKB/TrEMBL
    Q3UJB7, Q91YZ5
    Conserved Domains (2) summary
    cd16526
    Location:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  5. XM_011248140.4XP_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:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  6. XM_030252469.2XP_030108329.1  peroxisome biogenesis factor 2 isoform X1

    UniProtKB/TrEMBL
    Q3UJB7, Q91YZ5
    Conserved Domains (2) summary
    cd16526
    Location:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  7. XM_006530059.4XP_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:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  8. XM_030252472.2XP_030108332.1  peroxisome biogenesis factor 2 isoform X1

    UniProtKB/TrEMBL
    Q3UJB7, Q91YZ5
    Conserved Domains (2) summary
    cd16526
    Location:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  9. XM_030252470.2XP_030108330.1  peroxisome biogenesis factor 2 isoform X1

    UniProtKB/TrEMBL
    Q3UJB7, Q91YZ5
    Conserved Domains (2) summary
    cd16526
    Location:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
  10. XM_036162962.1XP_036018855.1  peroxisome biogenesis factor 2 isoform X1

    UniProtKB/TrEMBL
    Q3UJB7, Q91YZ5
    Conserved Domains (2) summary
    cd16526
    Location:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
    pfam04757
    Location:27224
    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.