EPHX2 Gene Summary [Human]
This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
Details
| Type | Protein Coding |
| Official Symbol | EPHX2 |
| Official Name | epoxide hydrolase 2 [Source:HGNC Symbol;Acc:HGNC:3402] |
| Ensembl ID | ENSG00000120915 |
| Bio databases IDs | |
| Aliases | epoxide hydrolase 2, soluble epoxide hydrolase, bifunctional epoxide hydrolase |
| Synonyms | ABHD20, CEH, Cytosolic Epoxide Hydrolase, Eph2, epoxide hydrolase 2, Epoxide Hydrolase 2, Cytoplasmic, LOC105379341, SEH, sEP, Soluble epoxide hydrolase |
| 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 EPHX2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid phosphatase
- epoxide hydrolase
- epoxide hydrolase N-terminal domain-like phosphatase
- alpha/beta hydrolases
- PRK03592
- enzyme
- magnesium ion binding
- HAD hydrolase, family IA, variant 3
- HAD-superfamily hydrolase, subfamily IIIA
- alpha/beta hydrolase fold
- proline-specific peptidase, Bacillus coagulans-type subfamily
- poly(3-hydroxyalkanoate) depolymerase
- phosphatase
- protein homodimerization
- Haloacid Dehalogenase-like Hydrolases
- haloacid dehalogenase-like hydrolase
- toxin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- Alzheimer disease
- hepatocellular carcinoma
- breast cancer
- vascular malformation
- major depression
- bipolar disorder
- hepatitis B virus-related hepatocellular carcinoma
- liver cancer
- pain
role in cell
- expression in
- phosphorylation in
- number
- growth
- apoptosis
- cell death
- proliferation
- activation in
- formation
- cellular infiltration by
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
- peroxisomal matrix
- lysosome
- Mitochondria
- cytosol
- peroxisomes
- membrane processes
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPHX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phospholipid dephosphorylation
- epoxide metabolic process
- stilbene catabolic process
- positive regulation of gene expression
- dephosphorylation
- cholesterol homeostasis
- response to toxin
- regulation of cholesterol metabolic process
Cellular Component
Where in the cell the gene product is active
- peroxisome
- extracellular vesicular exosome
- cytosol
- peroxisomal matrix
Molecular Function
What the gene product does at the molecular level
- toxin binding
- magnesium ion binding
- protein homodimerization activity
- lysophosphatidic acid phosphatase activity
- 10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity
- phosphatase activity
- lipid phosphatase activity
- epoxide hydrolase activity