AlphaFold predicted structure
PEX2 · P28328
Mean pLDDT
80.4/ 100
Confident
305 residues
Confidence breakdown
- Very high(≥ 90)39%
- Confident(70–90)40%
- Low(50–70)13%
- Very low(< 50)8%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PEX2
Chr 8q21.13peroxisomal biogenesis factor 2
- Aliases:
- PMP35, PAF-1, RNF72, ZWS3
- MANE:
- ENST00000357039.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalFetal hydrops
BIALLELIC, autosomal or pseudoautosomalInherited white matter disorders
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
peroxisome biogenesis disorder 5A (Zellweger)
0.83Zellweger syndrome
0.82Peroxisome biogenesis disorder-Zellweger syndrome spectrum
0.82Zellweger spectrum disorders
0.75peroxisome biogenesis disorder
0.70peroxisomal disease
0.62hereditary disease
0.41peroxisome biogenesis disorder type 3B
0.38peroxisome biogenesis disorder 1A (Zellweger)
0.37atrial fibrillation
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Peroxisome biogenesis factor 2
E3 ubiquitin-protein ligase component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting PEX5 recycling (PubMed:24662292). The retrotranslocation channel is composed of PEX2, PEX10 and PEX12; each subunit contributing transmembrane segments that coassemble into an open channel that specifically allows the passage of PEX5 through the peroxisomal membrane (By similarity). PEX2 also regulates peroxisome organization by acting as a E3 ubiquitin-protein ligase (By similarity). PEX2 ubiquitinates PEX5 during its passage through the retrotranslocation channel: catalyzes monoubiquitination of PEX5 at 'Cys-11', a modification that acts as a signal for PEX5 extraction into the cytosol (By similarity). Required for pexophagy in response to starvation by mediating ubiquitination of peroxisomal proteins, such as PEX5 and ABCD3/PMP70 (PubMed:27597759). Also involved in the response to reactive oxygen species (ROS) by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of PNPLA2/ATGL, thereby regulating lipolysis (PubMed:34903883)