EPHX2 (epoxide hydrolase 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2053
Gene name Gene Name - the full gene name approved by the HGNC.
Epoxide hydrolase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPHX2
Synonyms (NCBI Gene) Gene synonyms aliases
ABHD20, CEH, SEH
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p21.2-p21.1
Summary Summary of gene provided in NCBI Entrez 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 h
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs751141 G>A Risk-factor Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(94)
miRTarBase ID miRNA Experiments Reference
MIRT690137 hsa-miR-5683 HITS-CLIP 23313552
MIRT690136 hsa-miR-4700-3p HITS-CLIP 23313552
MIRT690135 hsa-miR-1197 HITS-CLIP 23313552
MIRT690134 hsa-miR-4778-5p HITS-CLIP 23313552
MIRT690133 hsa-miR-4436a HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IBA
GO:0000287 Function Magnesium ion binding IDA 12574510
GO:0001558 Process Regulation of cell growth TAS 24681163
GO:0003824 Function Catalytic activity IEA
GO:0004301 Function Epoxide hydrolase activity IDA 8342951, 10862610, 21217101, 22798687
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
132811 3402 ENSG00000120915
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P34913
Protein name Bifunctional epoxide hydrolase 2 [Includes: Cytosolic epoxide hydrolase 2 (CEH) (EC 3.3.2.10) (Epoxide hydratase) (Soluble epoxide hydrolase) (SEH); Lipid-phosphate phosphatase (EC 3.1.3.76)]
Protein function Bifunctional enzyme (PubMed:12574510). The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides (PubMed:12574510, PubMed:12869654, PubMed:22798687). Plays a role in xenobiotic metabolis
PDB 1S8O , 1VJ5 , 1ZD2 , 1ZD3 , 1ZD4 , 1ZD5 , 3ANS , 3ANT , 3I1Y , 3I28 , 3KOO , 3OTQ , 3PDC , 3WK4 , 3WK5 , 3WK6 , 3WK7 , 3WK8 , 3WK9 , 3WKA , 3WKB , 3WKC , 3WKD , 3WKE , 4C4X , 4C4Y , 4C4Z , 4HAI , 4J03 , 4JNC , 4OCZ , 4OD0 , 4X6X , 4X6Y , 4Y2J , 4Y2P , 4Y2Q , 4Y2R , 4Y2S , 4Y2T , 4Y2U , 4Y2V , 4Y2X , 4Y2Y , 5AHX , 5AI0 , 5AI4 , 5AI5 , 5AI6 , 5AI8 , 5AI9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00702 Hydrolase 3 → 197 Domain
PF00561 Abhydrolase_1 259 → 531 alpha/beta hydrolase fold Domain
Sequence
Sequence length 555
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Arachidonic acid metabolism
Metabolic pathways
Peroxisome
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species 		  Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
Biosynthesis of maresins
Peroxisomal protein import
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Hypercholesterolemia Hypercholesterolemia, familial, 1, hypercholesterolemia, familial, 1 N/A N/A ClinVar, GenCC
Lung adenocarcinoma Lung adenocarcinoma N/A N/A GWAS
Show/Hide Text Mining Associations (81)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 23305094
Acute Kidney Injury Associate 28552948, 36594097
Albuminuria Associate 34040693
Alcoholism Associate 35404482
Alzheimer Disease Associate 37349091
Aneurysm Associate 25216066
Anorexia Nervosa Associate 23999524, 25824304, 28232135
Anxiety Inhibit 36233100
Asthma Associate 31670489
Atherosclerosis Associate 11842228, 22525341, 23305094, 23466098, 34040693