PEX2 Gene Summary [Human]
This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PEX2 |
| Official Name | peroxisomal biogenesis factor 2 [Source:HGNC Symbol;Acc:HGNC:9717] |
| Ensembl ID | ENSG00000164751 |
| Bio databases IDs | |
| Aliases | peroxisomal biogenesis factor 2, Zellweger syndrome, peroxin 2 |
| Synonyms | D3Ertd138e, PAF-1, PBD5A, PBD5B, peroxisomal biogenesis factor 2, PMP3, PMP35, PXMP3, RNF72, ZWS3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PEX2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein carrier
- Pex2 / Pex12 amino terminal region
- zinc finger of C3HC4-type, RING
- ubiquitin protein ligase activity
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Ring finger
- enzyme
- protein binding
- Zinc finger, C3HC4 type (RING finger)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- peroxisome biogenesis disorder 5a (zellweger)
- infantile refsum disease
- microcephaly
- Zellweger syndrome
- peroxisome biogenesis disorder 5B
- gait disturbance
- cholestasis
- peroxisome biogenesis disorder
- hepatic steatosis
role in cell
- proliferation
- quantity
- migration
- abnormal morphology
- pexophagy
- organization
- response by
- pexophagy in
- ubiquitination in
- degradation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- cytosol
- peroxisome membrane
- nucleoplasm
- synaptic vesicles
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PEX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein destabilization
- protein import into peroxisome matrix
- fatty acid beta-oxidation
- negative regulation of fibroblast proliferation
- negative regulation of epithelial cell proliferation
- peroxisome organization
- protein import into peroxisome matrix, receptor recycling
- macropexophagy
- very long-chain fatty acid metabolic process
- cellular response to reactive oxygen species
- protein monoubiquitination
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- membrane
- Cdc73/Paf1 complex
- cytosol
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- protein transmembrane transporter activity