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    EPHX2 epoxide hydrolase 2 [ Homo sapiens (human) ]

    Gene ID: 2053, updated on 7-Aug-2021

    Summary

    Official Symbol
    EPHX2provided by HGNC
    Official Full Name
    epoxide hydrolase 2provided by HGNC
    Primary source
    HGNC:HGNC:3402
    See related
    Ensembl:ENSG00000120915 MIM:132811
    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
    NEW
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    Genomic context

    See EPHX2 in Genome Data Viewer
    Location:
    8p21.2-p21.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (27491143..27597559)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27348660..27403081)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cholinergic receptor nicotinic alpha 2 subunit Neighboring gene CRISPRi-validated cis-regulatory element chr8.973 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

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Familial hypercholesterolemia 1
    MedGen: C0745103 OMIM: 143890 GeneReviews: Familial Hypercholesterolemia
    Compare labs
    Genome-wide association scan of dental caries in the permanent dentition.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables lipid phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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 
    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
    PubMed 
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001256482.2NP_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)
      AF311103, AK096089, AK096770, BQ272362, DC331720
      Consensus CDS
      CCDS59097.1
      UniProtKB/Swiss-Prot
      P34913
      Related
      ENSP00000369843.3, ENST00000380476.7
      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_001256483.2NP_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)
      AF311103, AK096089, BQ272362, DC331720
      Consensus CDS
      CCDS59098.1
      UniProtKB/Swiss-Prot
      P34913
      Related
      ENSP00000430302.1, ENST00000521780.5
      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_001256484.2NP_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)
      AF311103, 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_001979.6NP_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)
      AF311103, BC011628, BQ272362, DC331720
      Consensus CDS
      CCDS6060.1
      UniProtKB/Swiss-Prot
      P34913
      Related
      ENSP00000430269.1, ENST00000521400.6
      Conserved Domains (2) summary
      cd02603
      Location:3214
      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:259531
      Abhydrolase_1; alpha/beta hydrolase fold

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      27491143..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

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