Gene: EPHX2

Alternate names for this Gene: ABHD20|CEH|SEH

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8p21.2-p21.1

Description of this Gene: epoxide hydrolase 2

Type of Gene: protein-coding

rs2269461 in EPHX2 gene and Alzheimer's Disease PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

rs56223946 in EPHX2 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs17057381 in EPHX2 gene and Dental caries PMID 23259602 2012 Genome-wide association scan of dental caries in the permanent dentition.

rs17466684 in EPHX2 gene and Panic Disorder PMID 19165232 2009 Genome-wide association study of panic disorder in the Japanese population.

rs56223946 in EPHX2 gene and Schizophrenia PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.