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

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 ubiquitin protein ligase activity. Involved in peroxisome organization. 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 peroxisome. Predicted to be part of Cdc73/Paf1 complex. Predicted to be active in peroxisomal membrane. Is expressed in several structures, including central nervous system and genitourinary system. Human ortholog(s) of this gene implicated in Peroxisome biogenesis disorder 5B and peroxisome biogenesis disorder 5A. Orthologous to human PEX2 (peroxisomal biogenesis factor 2). [provided by Alliance of Genome Resources, Dec 2024]
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

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PEX2 is required for peroxisome autophagy during starvation.
Title: PEX2 is the E3 ubiquitin ligase required for pexophagy during starvation.
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)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI233233 (e-PCR)
- UniSTS:250136

AF031128 (e-PCR)
- UniSTS:207460

BB282098 (e-PCR)
- UniSTS:207461

RH126056 (e-PCR)
- UniSTS:162768

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase activity	ISS Inferred from Sequence or Structural Similarity 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 pexophagy	ISS Inferred from Sequence or Structural Similarity 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 import into peroxisome matrix, receptor recycling	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein monoubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein ubiquitination	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 response to amino acid starvation	ISS Inferred from Sequence or Structural Similarity 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
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	IEA Inferred from Electronic Annotation 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

EC 2.3.2.27

EC 2.3.2.36

NP_001156774.1

EC 2.3.2.27

EC 2.3.2.36

NP_001156777.1

EC 2.3.2.27

EC 2.3.2.36

NP_001156778.1

EC 2.3.2.27

EC 2.3.2.36

NP_001254643.1

EC 2.3.2.27

EC 2.3.2.36

NP_001254644.1

EC 2.3.2.27

EC 2.3.2.36

NP_033020.2

EC 2.3.2.27

EC 2.3.2.36

XP_006530121.1

EC 2.3.2.27

EC 2.3.2.36

XP_006530122.1

EC 2.3.2.27

EC 2.3.2.36

XP_011246442.1

EC 2.3.2.27

EC 2.3.2.36

XP_017174994.1

EC 2.3.2.27

EC 2.3.2.36

XP_030108329.1

EC 2.3.2.27

EC 2.3.2.36

XP_030108330.1

EC 2.3.2.27

EC 2.3.2.36

XP_030108331.1

EC 2.3.2.27

EC 2.3.2.36

XP_030108332.1

EC 2.3.2.27

EC 2.3.2.36

XP_030108335.1

EC 2.3.2.27

EC 2.3.2.36

XP_036018855.1

EC 2.3.2.27

EC 2.3.2.36

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)

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
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
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
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
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
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
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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

5625248..5643655 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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

NM_001163304.1: Suppressed sequence

Description

NM_001163304.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.