EPHX2 - epoxide hydrolase 2 Gene

Also Known as CEH; SEH; ABHD20

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2053

About EPHX2

Cytogenetic location: 8p21.2-p21.1 Genomic coordinates (GRCh38): 8:27,491,143-27,545,564 (from NCBI)

This gene has 12 transcripts (splice variants), 204 orthologues, 12 paralogues and is associated with 1 phenotype. Broad expression in kidney (RPKM 34.1), small intestine (RPKM 33.0) and 23 other tissues.

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. [provided by RefSeq, Feb 2012]

EPHX2 Products (4)

mRNA Protein Name
NM_001256482.2 NP_001243411.1 bifunctional epoxide hydrolase 2 isoform 2
NM_001256483.2 NP_001243412.1 bifunctional epoxide hydrolase 2 isoform 3
NM_001256484.2 NP_001243413.1 bifunctional epoxide hydrolase 2 isoform 2
NM_001979.6 NP_001970.2 bifunctional epoxide hydrolase 2 isoform1

EPHX2 Protein Structure

HAD_2

HAD_2: Haloacid dehalogenase-like hydrolase (7 - 203)

Abhydrolase_1

Abhydrolase_1: alpha/beta hydrolase fold (286 - 539)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 555 a.a.
Protein Preferred Names Protein Names

bifunctional epoxide hydrolase 2

  • epoxide hydratase

Recombinant EPHX2 Proteins

Cat. No. Product Name Accession Purity
HY-P75227 EPHX2 Protein, Human (sf9, His) P34913-1/NP_001970.2 (M1-M555) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Hypercholesterolemia, Familial, 1
  • Hypercholesterolemia

  • FHCL1

  • Fhc

  • Fh

  • Hyperlipoproteinemia, Type Ii

  • Hyperlipoproteinemia, Type Iia

  • Hyper-Low-Density-Lipoproteinemia

  • Hypercholesterolemic Xanthomatosis, Familial

  • Ldl Receptor Disorder

  • Hypercholesterolemia, Susceptibility To

  • Hypercholesterolemia, Familial, Modifier Of

  • Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

  • Ldl Cholesterol Level Qtl2

  • Hyperlipoproteinemia Type Ii

  • Hypercholesterolemia, Familial, Type 1

  • High Cholesterol

  • Increased Cholesterol

  • Low-Density-Lipoid-Type Hyperlipoproteinemia

  • Pure Hypercholesterolaemia

  • Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

  • Group A Hyperlipidaemia

  • Pure Hypercholesterinaemia

  • Cholesterolaemia

  • Essential Cholesterolaemia

  • Essential Hypercholesterolaemia

  • Group A Hyperlipemia

  • Increased Low Density Lipoprotein

  • Low-Density-Lipoprotein-Type

  • Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Familial Hypercholesterolemia
  • Hyperlipoproteinemia Type Iia

  • Familial Hyperbetalipoproteinaemia

  • Familial Hypercholesteremia

  • Fredrickson Type Iia Hyperlipoproteinemia

  • Fredrickson Type Iia Lipidaemia

  • Hyperbetalipoproteinemia

  • Type Ii Hyperlipidemia

  • Familial Hypercholesterolæmia

  • Familial Hypercholesterolaemia

  • Fh

  • Hypercholesterolemia Familial

  • Hyperlipoproteinemia Type Ii

  • Hypercholesterolemia, Familial

Fetal Hydantoin Syndrome
  • Dilantin Embryopathy

  • Phenytoin Embryopathy

  • Fetal Dihydantoin Syndrome

  • Phenytoin Embryofetopathy

  • Dysmorphism Due To Hydantoin

Staphyloenterotoxemia
  • Staphylococcal Food Poisoning

  • Staphylococcal Toxaemia Due To Food

  • Staphyloenterotoxicosis

Commensal Bacterial Infectious Disease
Ritter'S Disease
  • Staphylococcal Scalded Skin Syndrome

  • Pemphigus Neonatorum

  • Ritter Disease

  • Dermatitis Exfoliativa Neonatorum

  • Scalded Skin Syndrome

  • Toxic Epidermal Necrolysis, Subcorneal Type

  • Generalized Exfoliative Disease

  • Ssss

  • Ssss - [Staphylococcal Scalded Skin Syndrome]

Adult Respiratory Distress Syndrome
  • Acute Respiratory Distress Syndrome

  • Ards

  • Non-Cardiogenic Pulmonary Edema

  • Acute Lung Injury

  • Respiratory Distress Syndrome, Adult

  • Shock Lung

  • Acute Respiratory Distress

  • Respiratory Distress Syndrome

  • Adult Rds

  • Ali

  • Increased-Permeability Pulmonary Edema

  • Stiff Lung

  • Respiratory Distress Syndrome Adult

Pyomyositis
  • Tropical Pyomyositis

  • Myositis Tropicans

  • Myositis Purulenta Tropica

  • Pm

  • Suppurative Myositis

  • Purulent Myositis

Colon Adenocarcinoma
  • Adenocarcinoma Of Colon

  • Adenocarcinoma Of The Colon

  • Colonic Adenocarcinoma

Ichthyosis
  • Ichthyoses

  • Non-Syndromic Ichthyosis

  • Congenital Ichthyosis

Scarlet Fever
  • Scarlatina

  • Scarlatina Nos

Intracranial Berry Aneurysm
  • Familial Aneurysmal Subarachnoid Hemorrhage

  • Familial Berry Aneurysm

  • Familial Intracranial Saccular Aneurysm

  • Saccular Cerebral Aneurysm

  • Aneurysm, Intracranial Berry

  • Aneurysmal Subarachnoid Hemorrhage

  • Aneurysm, Intracranial Berry, 1

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus EPHX2 VGNC VGNC:78487
Canis familiaris EPHX2 VGNC VGNC:40416
Macaca mulatta EPHX2 VGNC VGNC:81392
Bos taurus EPHX2 VGNC VGNC:28542
Mus musculus EPHX2 MGD MGI:99500
Rattus norvegicus EPHX2 RGD RGD:620732
Others EPHX2 NCBI