EPHX1 (epoxide hydrolase 1)

2003-08-01  

Identity

HGNC
EPHX1
LOCATION
1q42.12
LOCUSID
2052
ALIAS
EPHX,EPOX,HYL1,MEH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2052
MIM: 132810
HGNC: 3401
Ensembl: ENSG00000143819

Variants:

dbSNP: 2052
ClinVar: 2052
TCGA: ENSG00000143819
COSMIC: EPHX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143819ENST00000272167P07099
ENSG00000143819ENST00000272167R4SBI6
ENSG00000143819ENST00000366837P07099
ENSG00000143819ENST00000366837R4SBI6
ENSG00000143819ENST00000445856B1AQP9
ENSG00000143819ENST00000448202B1AQP8
ENSG00000143819ENST00000614058P07099
ENSG00000143819ENST00000614058R4SBI6

Expression (GTEx)

0
500
1000
1500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of xenobiotics by cytochrome P450KEGGko00980
Metabolism of xenobiotics by cytochrome P450KEGGhsa00980
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Chemical carcinogenesisKEGGhsa05204
Chemical carcinogenesisKEGGko05204
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443223Congenital AbnormalitiesDiseaseClinicalAnnotationassociatedPD19952982
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPKPD20157331
PA444065EpilepsyDiseaseClinicalAnnotationassociatedPKPD15692831, 19620853, 22188362, 25495409, 26314341
PA445204Ovarian NeoplasmsDiseaseClinicalAnnotationassociatedPD24533712
PA446836Craniofacial AbnormalitiesDiseaseClinicalAnnotationassociatedPD19952982
PA448785carbamazepineChemicalClinicalAnnotationassociatedPKPD15692831, 19620853, 22188362, 25495409, 26314341
PA449014cisplatinChemicalClinicalAnnotationassociatedPD24533712
PA449165cyclophosphamideChemicalClinicalAnnotationassociatedPD24533712
PA449383docetaxelChemicalClinicalAnnotationassociatedPKPD20157331
PA450921phenprocoumonChemicalClinicalAnnotationassociatedPKPD21057703
PA450947phenytoinChemicalClinicalAnnotationassociatedPD19952982
PA451906warfarinChemicalClinicalAnnotation, VariantAnnotationambiguousPD19794411, 21192345, 21593757, 23061746

References

Pubmed IDYearTitleCitations
117514402001Metabolic gene polymorphism frequencies in control populations.157
165381762006Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions.112
170480072007Association of warfarin dose with genes involved in its action and metabolism.100
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.84
157461602005Constitutional short telomeres are strong genetic susceptibility markers for bladder cancer.83
157140762005CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: a HuGEnet systematic review and meta-analysis.64
158177132005Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.64
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
124198322002A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.58

Citation

Dessen P

EPHX1 (epoxide hydrolase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/40472/ephx1-(epoxide-hydrolase-1)