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    EPHX2 epoxide hydrolase 2 [ Homo sapiens (human) ]

    Gene ID: 2053, updated on 9-Jul-2017
    Official Symbol
    EPHX2provided by HGNC
    Official Full Name
    epoxide hydrolase 2provided by HGNC
    Primary source
    HGNC:HGNC:3402
    See related
    Ensembl:ENSG00000120915 MIM:132811; Vega:OTTHUMG00000102115
    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
    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]
    Orthologs
    Location:
    8p21.2-p21.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (27491002..27597559)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27348519..27402439)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene protein tyrosine kinase 2 beta Neighboring gene microRNA 6842 Neighboring gene cholinergic receptor nicotinic alpha 2 subunit Neighboring gene gulonolactone (L-) oxidase, pseudogene Neighboring gene microRNA 6843 Neighboring gene clusterin Neighboring gene scavenger receptor class A member 3 Neighboring gene RNA, U6 small nuclear 1086, pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Familial hypercholesterolemia
    MedGen: C0020445 OMIM: 143890 GeneReviews: Familial Hypercholesterolemia
    Compare labs

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Genome-wide association scan of dental caries in the permanent dentition.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    epoxide hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epoxide hydrolase activity TAS
    Traceable Author Statement
    more info
     
    lipid phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    toxic substance binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular calcium ion homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cholesterol homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    epoxygenase P450 pathway TAS
    Traceable Author Statement
    more info
     
    inflammatory response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    phospholipid dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of blood vessel diameter NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    reactive oxygen species metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of blood pressure NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to toxic substance NAS
    Non-traceable Author Statement
    more info
    PubMed 
    stilbene catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    xenobiotic metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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_001970.2
    XP_016868688.1
    XP_016868689.1

    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
      4875..58795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001243411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site at its 5' end and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 4 encode the same isoform (b).
      Source sequence(s)
      AK096089, AK096770, BQ272362, DC331720
      Consensus CDS
      CCDS59097.1
      UniProtKB/Swiss-Prot
      P34913
      Related
      ENSP00000369843.3, OTTHUMP00000225245, ENST00000380476.7, OTTHUMT00000376138
      Conserved Domains (3) summary
      pfam00561
      Location:206478
      Abhydrolase_1; alpha/beta hydrolase fold
      cl21460
      Location:59155
      HAD_like; Haloacid Dehalogenase-like Hydrolases
      cl21494
      Location:188312
      Abhydrolase; alpha/beta hydrolases
    2. NM_001256483.1NP_001243412.1  bifunctional epoxide hydrolase 2 isoform c

      See identical proteins and their annotated locations for NP_001243412.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon at its 5' end and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AK096089, BQ272362, DC331720
      Consensus CDS
      CCDS59098.1
      UniProtKB/Swiss-Prot
      P34913
      Related
      ENSP00000430302.1, OTTHUMP00000225244, ENST00000521780.5, OTTHUMT00000376137
      Conserved Domains (3) summary
      pfam00561
      Location:193465
      Abhydrolase_1; alpha/beta hydrolase fold
      cl21460
      Location:46142
      HAD_like; Haloacid Dehalogenase-like Hydrolases
      cl21494
      Location:175299
      Abhydrolase; alpha/beta hydrolases
    3. NM_001256484.1NP_001243413.1  bifunctional epoxide hydrolase 2 isoform b

      See identical proteins and their annotated locations for NP_001243413.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site at its 5' end and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 4 encode the same isoform (b).
      Source sequence(s)
      AK096089, AK308041, BQ272362, DC331720
      Consensus CDS
      CCDS59097.1
      UniProtKB/Swiss-Prot
      P34913
      Conserved Domains (3) summary
      pfam00561
      Location:206478
      Abhydrolase_1; alpha/beta hydrolase fold
      cl21460
      Location:59155
      HAD_like; Haloacid Dehalogenase-like Hydrolases
      cl21494
      Location:188312
      Abhydrolase; alpha/beta hydrolases
    4. NM_001979.5NP_001970.2  bifunctional epoxide hydrolase 2 isoform a

      See identical proteins and their annotated locations for NP_001970.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC011628, BQ272362, DC331720
      Consensus CDS
      CCDS6060.1
      UniProtKB/Swiss-Prot
      P34913
      Related
      ENSP00000430269.1, OTTHUMP00000128312, ENST00000521400.5, OTTHUMT00000219954
      Conserved Domains (4) summary
      TIGR02247
      Location:2219
      HAD-1A3-hyp; epoxide hydrolase N-terminal domain-like phosphatase
      pfam00561
      Location:259531
      Abhydrolase_1; alpha/beta hydrolase fold
      cl21460
      Location:112208
      HAD_like; Haloacid Dehalogenase-like Hydrolases
      cl21494
      Location:241365
      Abhydrolase; alpha/beta hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      27491002..27597559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013199.1XP_016868688.1  bifunctional epoxide hydrolase 2 isoform X1

    2. XM_017013200.1XP_016868689.1  bifunctional epoxide hydrolase 2 isoform X2

    RNA

    1. XR_001745491.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      27550382..27604304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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