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    EPHX2 epoxide hydrolase 2 [ Homo sapiens (human) ]

    Gene ID: 2053, updated on 3-Nov-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
    mouse all
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    Genomic context

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    See EPHX2 in Genome Data Viewer
    Location:
    8p21.2-p21.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (27491143..27548626)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (27768490..27825967)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27348660..27406143)

    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 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. Evidence for the role of EPHX2 gene variants in anorexia nervosa. Scott-Van Zeeland AA, et al. Mol Psychiatry, 2014 Jun. PMID 23999524, Free PMC Article
    2. Localization of the human soluble epoxide hydrolase gene (EPHX2) to chromosomal region 8p21-p12. Larsson C, et al. Hum Genet, 1995 Mar. PMID 7868134
    3. [Relationship between EPHX2 gene polymorphism and essential hypertension in Kazaks and Hans in Xinjiang]. Li N, et al. Zhonghua Xin Xue Guan Bing Za Zhi, 2011 Dec. PMID 22336502
    4. Epoxyeicosatrienoic acid pathway in human health and diseases. Bellien J, et al. J Cardiovasc Pharmacol, 2013 Mar. PMID 23011468
    5. Upregulation of soluble epoxide hydrolase in proximal tubular cells mediated proteinuria-induced renal damage. Wang Q, et al. Am J Physiol Renal Physiol, 2013 Jan 15. PMID 23152298, Free PMC Article

    See all (158) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Targeting the soluble epoxide hydrolase pathway as a novel therapeutic approach for the treatment of pain.
      Title: Targeting the soluble epoxide hydrolase pathway as a novel therapeutic approach for the treatment of pain.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. Clinical significance of EPHX2 deregulation in prostate cancer.
      Title: Clinical significance of EPHX2 deregulation in prostate cancer.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (89)

    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_2024_08

    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.

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