EPHX3
Epoxide Hydrolase 3
Gene Information Card
| Symbol | EPHX3 |
|---|---|
| Full Name | Epoxide Hydrolase 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 79852 ncbi.nlm.nih.gov/gene/79852 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | Q9H6B9 |
| OMIM ID | 617820 |
| HGNC ID | 23748 |
| Aliases | ABHD9, EH3, EPHX3a, EPHX3b |
Description
EPHX3 (epoxide hydrolase 3) encodes a member of the epoxide hydrolase family that catalyzes the hydrolysis of epoxides to diols. The enzyme is involved in the metabolism of xenobiotics and endogenous lipid epoxides, with preferential expression in the liver and kidney. Alternative splicing produces multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Kidney Disease | Altered epoxide metabolism may contribute to renal fibrosis | PMID: 25982116 |
| Hypertension | Dysregulation of epoxide hydrolase activity affects blood pressure regulation | PMID: 27125348 |
| Cancer (various) | Epoxide hydrolase activity influences detoxification of carcinogens | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 3.1 | Low |
| Small Intestine | 2.8 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 6.7 | Embryonic kidney cell line |
| A549 | 2.9 | Lung carcinoma cell line |
| Caco-2 | 1.8 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.01% (gnomAD) | Reduced catalytic activity |
| c.524G>A (p.Arg175Gln) | Missense | 0.005% (gnomAD) | Unknown functional effect |
| c.788_789del (p.Leu263fs) | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu263fs) lead to premature truncation and loss of enzymatic activity.
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)
| • epoxide hydrolase activity | • hydrolase activity |
| • lipid metabolic process | • xenobiotic metabolic process |
| • response to toxic substance |
Pathways
• Epoxide metabolism
• Xenobiotic metabolism by cytochrome P450
Protein Summary
EPHX3 is a 359-amino acid microsomal epoxide hydrolase with an alpha/beta hydrolase fold. It hydrolyzes a range of epoxide substrates, including lipid-derived epoxides and xenobiotic epoxides, to less reactive diols. The enzyme is anchored to the endoplasmic reticulum membrane via an N-terminal transmembrane domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPHX3 Knockout HEK293 Cell Line | EDJ-KQ13304 | Human | 79852 | Details Get a Quote |
| EPHX3 Knockout HeLa Cell Line | EDJ-KQ57243 | Human | 79852 | Details Get a Quote |
| EPHX3 Knockout A-549 Cell Line | EDJ-KQ65757 | Human | 79852 | Details Get a Quote |
| EPHX3 Knockout HCT 116 Cell Line | EDJ-KQ74175 | Human | 79852 | Details Get a Quote |
