Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2052
Gene name Gene Name - the full gene name approved by the HGNC.
Epoxide hydrolase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPHX1
Synonyms (NCBI Gene) Gene synonyms aliases
EPHX, EPOX, HYL1, MEH
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.12
Summary Summary of gene provided in NCBI Entrez Gene.
Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and det
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1051740 T>C Benign, drug-response, risk-factor Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs2234922 A>G,T Benign, drug-response Intron variant, non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016561 hsa-miR-193b-3p Proteomics 21512034
MIRT030149 hsa-miR-26b-5p Microarray 19088304
MIRT966804 hsa-miR-1275 CLIP-seq
MIRT966805 hsa-miR-2110 CLIP-seq
MIRT966806 hsa-miR-3150a-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004301 Function Epoxide hydrolase activity IBA
GO:0004301 Function Epoxide hydrolase activity IDA 22798687, 24958911
GO:0004301 Function Epoxide hydrolase activity TAS 7516776
GO:0005515 Function Protein binding IPI 32814053, 35156780, 36012204
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
132810 3401 ENSG00000143819
Protein
UniProt ID P07099
Protein name Epoxide hydrolase 1 (EC 3.3.2.9) (Epoxide hydratase) (Microsomal epoxide hydrolase) (mEH)
Protein function Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). Plays a role in the metabolism of endogenous lipids such
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00561 Abhydrolase_1 142 405 alpha/beta hydrolase fold Domain
Tissue specificity TISSUE SPECIFICITY: Found in liver. {ECO:0000269|PubMed:12878321}.
Sequence
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEI
HDLHQRIDKFRFTPPLEDSCFHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKI
EGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKIIPLLTDPKNHGLSDEHVFEV
ICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVP
SHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYM
HIQCTKPDTVGSALNDSPVGLAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVML
YWTTGTIISSQRFYKENLGQGWMTQKHERMKVYVPTGFSAFPFEL
LHTPEKWVRFKYPKL
ISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ
Sequence length 455
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Metabolism of xenobiotics by cytochrome P450
Bile secretion
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
  Phase I - Functionalization of compounds
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Colorectal Cancer hereditary nonpolyposis colon cancer N/A N/A GenCC
Cystic Fibrosis cystic fibrosis N/A N/A ClinVar
Fibromuscular Dysplasia Fibromuscular dysplasia N/A N/A GWAS
Hypercholanemia Hypercholanemia, familial 1 N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 40526606
Adenocarcinoma Associate 12915882
Adenocarcinoma of Lung Associate 37965333
Adenoma Associate 18093316
Airway Obstruction Associate 31348278
Alzheimer Disease Associate 38104851
Asthma Associate 17711870, 18439551, 22610343
Asthma Exercise Induced Associate 22610343
Bone Diseases Associate 19657367
Brain Neoplasms Associate 24260161