Aliases for EPHX2 Gene
External Ids for EPHX2 Gene
Previous GeneCards Identifiers for EPHX2 Gene
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]
GeneCards Summary for EPHX2 Gene
EPHX2 (Epoxide Hydrolase 2) is a Protein Coding gene. Diseases associated with EPHX2 include Hypercholesterolemia, Familial and Fetal Hydantoin Syndrome. Among its related pathways are Arachidonate Epoxygenase / Epoxide Hydrolase and Peroxisome. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and hydrolase activity. An important paralog of this gene is EPHX4.
UniProtKB/Swiss-Prot for EPHX2 Gene
Bifunctional enzyme (PubMed:12574510). The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides (PubMed:12869654, PubMed:12574510, PubMed:22798687). Plays a role in xenobiotic metabolism by degrading potentially toxic epoxides (By similarity). Also determines steady-state levels of physiological mediators (PubMed:12869654, PubMed:12574510, PubMed:22798687). The N-terminal domain has lipid phosphatase activity, with the highest activity towards threo-9,10-phosphonooxy-hydroxy-octadecanoic acid, followed by erythro-9,10-phosphonooxy-hydroxy-octadecanoic acid, 12-phosphonooxy-octadec-9Z-enoic acid and 12-phosphonooxy-octadec-9E-enoic acid (PubMed:12574510).