PEX2
Peroxisomal Biogenesis Factor 2
Gene Information Card
| Symbol | PEX2 |
|---|---|
| Full Name | Peroxisomal Biogenesis Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 5828 ncbi.nlm.nih.gov/gene/5828 |
| Ensembl ID | ENSG00000164741 |
| UniProt ID | P28328 |
| OMIM ID | 170993 |
| HGNC ID | 8828 |
| Aliases | PAF1, PMP35, PXMP3, RNF4 |
Description
PEX2 encodes peroxisomal biogenesis factor 2, a RING finger protein involved in peroxisome matrix protein import. It is essential for peroxisome assembly and function; mutations cause peroxisome biogenesis disorders (PBDs) such as Zellweger syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zellweger syndrome | Loss-of-function mutations impair peroxisomal protein import, leading to defective peroxisome assembly and metabolic dysfunction. | ClinVar, OMIM |
| Peroxisome biogenesis disorder 5A (Zellweger) | Biallelic PEX2 mutations disrupt the peroxisomal import receptor recycling, causing severe neurological and hepatic abnormalities. | OMIM #614867 |
| Peroxisome biogenesis disorder 5B (infantile Refsum disease) | Hypomorphic PEX2 variants result in milder peroxisomal dysfunction with later onset. | OMIM #614867 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 5.1 | Low |
| Heart | 4.9 | Low |
| Lung | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| SH-SY5Y | 4.3 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.355C>T (p.Arg119*) | Nonsense | Rare | Loss of function; associated with Zellweger syndrome |
| c.650G>A (p.Arg217His) | Missense | Rare | Impaired peroxisomal import; reported in PBD |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Most PEX2 mutations are loss-of-function, leading to defective peroxisome assembly and severe PBD phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Peroxisomal protein import (Reactome: R-HSA-9033241)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
PEX2 is a 35 kDa peroxisomal integral membrane protein with a RING-type zinc finger domain. It functions as an E3 ubiquitin ligase, ubiquitinating PEX5 to recycle the peroxisomal import receptor. Defects in PEX2 disrupt peroxisome biogenesis, leading to accumulation of very long-chain fatty acids and other metabolites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEX2 Knockout HEK293 Cell Line | EDJ-KQ5615 | Human | 5828 | Details Get a Quote |
| PEX26 Knockout HEK293 Cell Line | EDJ-KQ14732 | Human | 55670 | Details Get a Quote |
| PEX2 Knockout HeLa Cell Line | EDJ-KQ27652 | Human | 5828 | Details Get a Quote |
| PEX2 Knockout A-549 Cell Line | EDJ-KQ28913 | Human | 5828 | Details Get a Quote |
| PEX2 Knockout HCT 116 Cell Line | EDJ-KQ28914 | Human | 5828 | Details Get a Quote |
| PEX26 Knockout A-549 Cell Line | EDJ-KQ45076 | Human | 55670 | Details Get a Quote |
| PEX26 Knockout HCT 116 Cell Line | EDJ-KQ45077 | Human | 55670 | Details Get a Quote |
| PEX26 Knockout HeLa Cell Line | EDJ-KQ45078 | Human | 55670 | Details Get a Quote |
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