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EPHX2 epoxide hydrolase 2 [ Homo sapiens (human) ]

Gene ID: 2053, updated on 5-Aug-2018

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; 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]
Expression
Broad expression in kidney (RPKM 34.1), small intestine (RPKM 33.0) and 23 other tissues See more
Orthologs

Genomic context

See EPHX2 in Genome Data Viewer
Location:
8p21.2-p21.1
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epoxide hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
epoxide hydrolase activity TAS
Traceable Author Statement
more info
 
lipid phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
magnesium ion binding IBA
Inferred from Biological aspect of Ancestor
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 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
toxic substance binding IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 
epoxide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
epoxygenase P450 pathway TAS
Traceable Author Statement
more info
 
inflammatory response NAS
Non-traceable Author Statement
more info
PubMed 
long-chain fatty acid biosynthetic process TAS
Traceable Author Statement
more info
 
phospholipid dephosphorylation IBA
Inferred from Biological aspect of Ancestor
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 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
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 HDA PubMed 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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 (2) summary
    pfam00561
    Location:259531
    Abhydrolase_1; alpha/beta hydrolase fold
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 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

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