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EPHX2 epoxide hydrolase 2 [ Homo sapiens (human) ]

Gene ID: 2053, updated on 3-Apr-2024

Summary

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Official Symbol
EPHX2provided by HGNC
Official Full Name
epoxide hydrolase 2provided by HGNC
Primary source
HGNC:HGNC:3402
See related
Ensembl:ENSG00000120915 MIM:132811; AllianceGenome:HGNC:3402
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CEH; SEH; ABHD20
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]
Expression
Broad expression in kidney (RPKM 34.1), small intestine (RPKM 33.0) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
8p21.2-p21.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (27491143..27548626)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (27768490..27825967)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27348660..27403081)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene protein tyrosine kinase 2 beta Neighboring gene microRNA 6842 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:27316840-27317083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27319910-27320838 Neighboring gene cholinergic receptor nicotinic alpha 2 subunit Neighboring gene CRISPRi-validated cis-regulatory element chr8.973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19049 Neighboring gene MPRA-validated peak6969 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27412252-27412752 Neighboring gene Sharpr-MPRA regulatory region 1589 Neighboring gene uncharacterized LOC124901919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27450407-27450907 Neighboring gene gulonolactone (L-) oxidase, pseudogene Neighboring gene clusterin

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A hypothesis-driven study to comprehensively investigate the association between genetic polymorphisms in EPHX2 gene and cardiovascular diseases: Findings from the UK Biobank. Zhu X, et al. Gene, 2022 May 15. PMID 35183688
  2. Identification and validation of EPHX2 as a prognostic biomarker in hepatocellular carcinoma. Zhan K, et al. Mol Med Rep, 2021 Sep. PMID 34278494, Free PMC Article
  3. Association of rs11780592 Polymorphism in the Human Soluble Epoxide Hydrolase Gene (EPHX2) with Oxidized LDL and Mortality in Patients with Diabetic Chronic Kidney Disease. Roumeliotis S, et al. Oxid Med Cell Longev, 2021. PMID 34040693, Free PMC Article
  4. No impact of soluble epoxide hydrolase rs4149243, rs2234914 and rs751142 genetic variants on the development of type II diabetes and its hypertensive complication among Jordanian patients. Khamees M, et al. Int J Clin Pract, 2021 May. PMID 33512081
  5. Soluble epoxide hydrolase as a therapeutic target for obesity-induced disorders: roles of gut barrier function involved. Zhang J, et al. Prostaglandins Leukot Essent Fatty Acids, 2020 Nov. PMID 33038829, Free PMC Article

See all (155) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Role of soluble epoxide hydrolase in the abnormal activation of fibroblast-like synoviocytes from patients with rheumatoid arthritis.
    Title: Role of soluble epoxide hydrolase in the abnormal activation of fibroblast-like synoviocytes from patients with rheumatoid arthritis.
  2. Targeting soluble epoxide hydrolase promotes osteogenic-angiogenic coupling via activating SLIT3/HIF-1alpha signalling pathway.
    Title: Targeting soluble epoxide hydrolase promotes osteogenic-angiogenic coupling via activating SLIT3/HIF-1α signalling pathway.
  3. Wide-spread enhancer effect of SNP rs2279590 on regulating epoxide hydrolase-2 and protein tyrosine kinase 2-beta gene expression.
    Title: Wide-spread enhancer effect of SNP rs2279590 on regulating epoxide hydrolase-2 and protein tyrosine kinase 2-beta gene expression.
  4. A hypothesis-driven study to comprehensively investigate the association between genetic polymorphisms in EPHX2 gene and cardiovascular diseases: Findings from the UK Biobank.
    Title: A hypothesis-driven study to comprehensively investigate the association between genetic polymorphisms in EPHX2 gene and cardiovascular diseases: Findings from the UK Biobank.
  5. Association of rs11780592 Polymorphism in the Human Soluble Epoxide Hydrolase Gene (EPHX2) with Oxidized LDL and Mortality in Patients with Diabetic Chronic Kidney Disease.
    Title: Association of rs11780592 Polymorphism in the Human Soluble Epoxide Hydrolase Gene (EPHX2) with Oxidized LDL and Mortality in Patients with Diabetic Chronic Kidney Disease.
  6. Preservation of epoxyeicosatrienoic acid bioavailability prevents renal allograft dysfunction and cardiovascular alterations in kidney transplant recipients.
    Title: Preservation of epoxyeicosatrienoic acid bioavailability prevents renal allograft dysfunction and cardiovascular alterations in kidney transplant recipients.
  7. Identification and validation of EPHX2 as a prognostic biomarker in hepatocellular carcinoma.
    Title: Identification and validation of EPHX2 as a prognostic biomarker in hepatocellular carcinoma.
  8. Clinical significance of EPHX2 deregulation in prostate cancer.
    Title: Clinical significance of EPHX2 deregulation in prostate cancer.
  9. Soluble epoxide hydrolase as a therapeutic target for obesity-induced disorders: roles of gut barrier function involved.
    Title: Soluble epoxide hydrolase as a therapeutic target for obesity-induced disorders: roles of gut barrier function involved.
  10. No impact of soluble epoxide hydrolase rs4149243, rs2234914 and rs751142 genetic variants on the development of type II diabetes and its hypertensive complication among Jordanian patients.
    Title: No impact of soluble epoxide hydrolase rs4149243, rs2234914 and rs751142 genetic variants on the development of type II diabetes and its hypertensive complication among Jordanian patients.
Submit: New GeneRIF Correction See all GeneRIFs (88)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hypercholesterolemia, familial, 1
MedGen: C0745103 OMIM: 143890 GeneReviews: Familial Hypercholesterolemia
Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genome-wide association scan of dental caries in the permanent dentition.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables epoxide hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables lipid phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables lipid phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables lysophosphatidic acid phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables magnesium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables toxic substance binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cholesterol homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in dephosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in epoxide metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phospholipid dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phospholipid dephosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cholesterol metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to toxic substance IEA
Inferred from Electronic Annotation
more info
  
involved_in stilbene catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
  
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
bifunctional epoxide hydrolase 2
Names
epoxide hydratase
epoxide hydrolase 2, cytoplasmic
epoxide hydrolase 2, cytosolic
epoxide hydrolase, soluble
NP_001243411.1
NP_001243412.1
NP_001243413.1
NP_001400945.1
NP_001400946.1
NP_001400947.1
NP_001400948.1
NP_001400949.1
NP_001400950.1
NP_001400951.1
NP_001400952.1
NP_001970.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012064.1 RefSeqGene

    Range
    5016..59437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256482.2 → NP_001243411.1  bifunctional epoxide hydrolase 2 isoform 2

    See identical proteins and their annotated locations for NP_001243411.1

    Status: REVIEWED

    Source sequence(s)
    AF311103, AK096089, AK096770, BQ272362, DC331720
    Consensus CDS
    CCDS59097.1
    UniProtKB/TrEMBL
    B4DFE9
    Related
    ENSP00000369843.3, ENST00000380476.7
    Conserved Domains (3) summary
    pfam00561
    Location:206 → 478
    Abhydrolase_1; alpha/beta hydrolase fold
    cl21460
    Location:59 → 155
    HAD_like; Haloacid Dehalogenase-like Hydrolases
    cl21494
    Location:188 → 312
    Abhydrolase; alpha/beta hydrolases

  2. NM_001256483.2 → NP_001243412.1  bifunctional epoxide hydrolase 2 isoform 3

    See identical proteins and their annotated locations for NP_001243412.1

    Status: REVIEWED

    Source sequence(s)
    AF311103, AK096089, BQ272362, DC331720
    Consensus CDS
    CCDS59098.1
    UniProtKB/TrEMBL
    B4DFE9
    Related
    ENSP00000430302.1, ENST00000521780.5
    Conserved Domains (3) summary
    pfam00561
    Location:193 → 465
    Abhydrolase_1; alpha/beta hydrolase fold
    cl21460
    Location:46 → 142
    HAD_like; Haloacid Dehalogenase-like Hydrolases
    cl21494
    Location:175 → 299
    Abhydrolase; alpha/beta hydrolases

  3. NM_001256484.2 → NP_001243413.1  bifunctional epoxide hydrolase 2 isoform 2

    See identical proteins and their annotated locations for NP_001243413.1

    Status: REVIEWED

    Source sequence(s)
    AF311103, AK096089, AK308041, BQ272362, DC331720
    Consensus CDS
    CCDS59097.1
    UniProtKB/TrEMBL
    B4DFE9
    Conserved Domains (3) summary
    pfam00561
    Location:206 → 478
    Abhydrolase_1; alpha/beta hydrolase fold
    cl21460
    Location:59 → 155
    HAD_like; Haloacid Dehalogenase-like Hydrolases
    cl21494
    Location:188 → 312
    Abhydrolase; alpha/beta hydrolases

  4. NM_001414016.1 → NP_001400945.1  bifunctional epoxide hydrolase 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AF311103

  5. NM_001414017.1 → NP_001400946.1  bifunctional epoxide hydrolase 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AF311103

  6. NM_001414018.1 → NP_001400947.1  bifunctional epoxide hydrolase 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AF311103

  7. NM_001414019.1 → NP_001400948.1  bifunctional epoxide hydrolase 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AF311103
    UniProtKB/TrEMBL
    E5RFU2
    Related
    ENSP00000427956.1, ENST00000518379.5

  8. NM_001414020.1 → NP_001400949.1  bifunctional epoxide hydrolase 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AF311103

  9. NM_001414021.1 → NP_001400950.1  bifunctional epoxide hydrolase 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AF311103

  10. NM_001414022.1 → NP_001400951.1  bifunctional epoxide hydrolase 2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AF311103

  11. NM_001414023.1 → NP_001400952.1  bifunctional epoxide hydrolase 2 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AF311103

  12. NM_001979.6 → NP_001970.2  bifunctional epoxide hydrolase 2 isoform 1

    See identical proteins and their annotated locations for NP_001970.2

    Status: REVIEWED

    Source sequence(s)
    AF311103, BC011628, BQ272362, DC331720
    Consensus CDS
    CCDS6060.1
    UniProtKB/Swiss-Prot
    B2Z3B1, B3KTU8, B3KUA0, G3V134, J3KPH7, P34913, Q16764, Q9HBJ1, Q9HBJ2
    UniProtKB/TrEMBL
    B4DFE9
    Related
    ENSP00000430269.1, ENST00000521400.6
    Conserved Domains (2) summary
    cd02603
    Location:3 → 214
    HAD_sEH-N_like; N-terminal lipase phosphatase domain of human soluble epoxide hydrolase, Escherichia coli YihX/HAD4 alpha-D-glucose 1-phosphate phosphatase, and related domains, may be inactive
    pfam00561
    Location:259 → 531
    Abhydrolase_1; alpha/beta hydrolase fold

RNA

  1. NR_182231.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF311103

  2. NR_182232.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF311103

  3. NR_182233.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF311103

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    27491143..27548626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    27768490..27825967
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P34913.2 GenPept UniProtKB/Swiss-Prot:P34913

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
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