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] See more...

Aliases for EPHX2 Gene

Aliases for EPHX2 Gene

  • Epoxide Hydrolase 2 2 3 5
  • Epoxide Hydrolase 2, Cytoplasmic 2 3
  • Bifunctional Epoxide Hydrolase 2 3 4
  • ABHD20 2 3
  • Epoxide Hydrolase 2, Cytosolic 3
  • Epoxide Hydrolase, Soluble 3
  • Epoxide Hydratase 3
  • EPHX2 5
  • CEH 3
  • SEH 3

External Ids for EPHX2 Gene

Previous GeneCards Identifiers for EPHX2 Gene

  • GC08P027131
  • GC08P027853
  • GC08P027370
  • GC08P027404
  • GC08P025893
  • GC08P027348

Summaries for EPHX2 Gene

Entrez Gene Summary for EPHX2 Gene

  • 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]

GeneCards Summary for EPHX2 Gene

EPHX2 (Epoxide Hydrolase 2) is a Protein Coding gene. Diseases associated with EPHX2 include Hypercholesterolemia, Familial, 1 and Familial Hypercholesterolemia. Among its related pathways are Naphthalene metabolism and Arachidonic acid metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and hydrolase activity. An important paralog of this gene is EPHX4.

UniProtKB/Swiss-Prot Summary for EPHX2 Gene

  • Bifunctional enzyme (PubMed:12574510). The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides (PubMed:12869654, PubMed:12574510, PubMed:22798687). Plays a role in xenobiotic metabolism by degrading potentially toxic epoxides (By similarity). Also determines steady-state levels of physiological mediators (PubMed:12869654, PubMed:12574510, PubMed:22798687, PubMed:21217101).
  • Bifunctional enzyme (PubMed:12574510). The N-terminal domain has lipid phosphatase activity, with the highest activity towards threo-9,10-phosphonooxy-hydroxy-octadecanoic acid, followed by erythro-9,10-phosphonooxy-hydroxy-octadecanoic acid, 12-phosphonooxy-octadec-9Z-enoic acid and 12-phosphonooxy-octadec-9E-enoic acid (PubMed:12574510). Has phosphatase activity toward lyso-glycerophospholipids with also some lower activity toward lysolipids of sphingolipid and isoprenoid phosphates (PubMed:22217705, PubMed:22387545).

Gene Wiki entry for EPHX2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPHX2 Gene

Genomics for EPHX2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EPHX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J027487 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 290 +0.4 364 8.1 MYC IKZF1 ZNF600 ZNF592 KLF9 CEBPA ATF3 POLR2A NFIC ZIC2 EPHX2 CHRNA2 piR-39891-074 CLU
GH08J027495 Enhancer 0.9 Ensembl ENCODE 40.5 +6.4 6412 3.5 NCOR1 IKZF1 ZNF592 ARNT NBN TAL1 PRDM10 HLTF SMARCA4 EHMT2 piR-39891-074 EPHX2 lnc-PTK2B-1 CLU
GH08J027514 Enhancer 0.7 Ensembl ENCODE 45 +24.5 24524 2.2 MYC REST CTCF RAD21 SMC3 L3MBTL2 GABPB1 CC2D1A HSALNG0064179 HSALNG0064181 EPHX2 CHRNA2 CLU
GH08J027330 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.4 -157.1 -157082 6.2 BCLAF1 NCOR1 ZNF600 IKZF1 SSRP1 ZNF592 CEBPA ATF3 NFIC CHD4 HSALNG0064168-001 HSALNG0064168-002 PTK2B TRIM35 EPHX2 CLU CHRNA2 RF00017-6358
GH08J027397 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -83.6 -83615 18.1 BCLAF1 BCL11A SMARCA5 BHLHE40 SPI1 ZNF189 MAX POLR2A IKZF1 NFATC1 PTK2B EPHX2 TRIM35 CHRNA2 CLU STMN4 FJ601684-441 piR-56037-080 RF00017-6359
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPHX2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPHX2

Top Transcription factor binding sites by QIAGEN in the EPHX2 gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • NF-kappaB
  • NF-kappaB1
  • PPAR-alpha

Genomic Locations for EPHX2 Gene

Latest Assembly
chr8:27,490,781-27,597,559
(GRCh38/hg38)
Size:
106,779 bases
Orientation:
Plus strand

Previous Assembly
chr8:27,348,660-27,403,081
(GRCh37/hg19 by Entrez Gene)
Size:
54,422 bases
Orientation:
Plus strand

chr8:27,348,296-27,403,081
(GRCh37/hg19 by Ensembl)
Size:
54,786 bases
Orientation:
Plus strand

Genomic View for EPHX2 Gene

Genes around EPHX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPHX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPHX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPHX2 Gene

Proteins for EPHX2 Gene

  • Protein details for EPHX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P34913-HYES_HUMAN
    Recommended name:
    Bifunctional epoxide hydrolase 2
    Protein Accession:
    P34913
    Secondary Accessions:
    • B2Z3B1
    • B3KTU8
    • B3KUA0
    • G3V134
    • J3KPH7
    • Q16764
    • Q9HBJ1
    • Q9HBJ2

    Protein attributes for EPHX2 Gene

    Size:
    555 amino acids
    Molecular mass:
    62616 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for EPHX2 Gene

    Alternative splice isoforms for EPHX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPHX2 Gene

Post-translational modifications for EPHX2 Gene

  • The N-terminus is blocked.
  • The covalent modification of cysteine by 15-deoxy-Delta12,14-prostaglandin-J2 is autocatalytic and reversible. It may occur as an alternative to other cysteine modifications, such as S-nitrosylation and S-palmitoylation (Probable).
  • Ubiquitination at Lys84, Lys89, Lys43, Lys174, Lys191, Lys245, Lys406, Lys421, Lys456, Lys474, and Lys530
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EPHX2 Gene

Domains & Families for EPHX2 Gene

Gene Families for EPHX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EPHX2 Gene

InterPro:
Blocks:
  • Alpha/beta hydrolase fold
  • Alpha/beta hydrolase fold signature
  • Haloacid dehalogenase/epoxide hydrolase family signature
  • Epoxide hydrolase signature

Suggested Antigen Peptide Sequences for EPHX2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54951, highly similar to Epoxide hydrolase 2 (EC 3.3.2.3) (B4E1M2_HUMAN)
  • Soluble epoxide hydrolase (HYES_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P34913

UniProtKB/Swiss-Prot:

HYES_HUMAN :
  • The N-terminal domain has phosphatase activity. The C-terminal domain has epoxide hydrolase activity.
  • Belongs to the AB hydrolase superfamily. Epoxide hydrolase family.
Domain:
  • The N-terminal domain has phosphatase activity. The C-terminal domain has epoxide hydrolase activity.
Family:
  • Belongs to the AB hydrolase superfamily. Epoxide hydrolase family.
genes like me logo Genes that share domains with EPHX2: view

Function for EPHX2 Gene

Molecular function for EPHX2 Gene

UniProtKB/Swiss-Prot Function:
Bifunctional enzyme (PubMed:12574510). The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides (PubMed:12869654, PubMed:12574510, PubMed:22798687). Plays a role in xenobiotic metabolism by degrading potentially toxic epoxides (By similarity). Also determines steady-state levels of physiological mediators (PubMed:12869654, PubMed:12574510, PubMed:22798687, PubMed:21217101).
UniProtKB/Swiss-Prot Function:
Bifunctional enzyme (PubMed:12574510). The N-terminal domain has lipid phosphatase activity, with the highest activity towards threo-9,10-phosphonooxy-hydroxy-octadecanoic acid, followed by erythro-9,10-phosphonooxy-hydroxy-octadecanoic acid, 12-phosphonooxy-octadec-9Z-enoic acid and 12-phosphonooxy-octadec-9E-enoic acid (PubMed:12574510). Has phosphatase activity toward lyso-glycerophospholipids with also some lower activity toward lysolipids of sphingolipid and isoprenoid phosphates (PubMed:22217705, PubMed:22387545).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an epoxide + H2O = an ethanediol; Xref=Rhea:RHEA:19037, ChEBI:CHEBI:15377, ChEBI:CHEBI:32955, ChEBI:CHEBI:140594; EC=3.3.2.10; Evidence={ECO:0000269|PubMed:12574510, ECO:0000269|PubMed:12869654, ECO:0000269|PubMed:22798687};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9S,10S)-10-hydroxy-9-(phosphooxy)octadecanoate + H2O = (9S,10S)-9,10-dihydroxyoctadecanoate + phosphate; Xref=Rhea:RHEA:16537, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58796, ChEBI:CHEBI:58797; EC=3.1.3.76; Evidence={ECO:0000269|PubMed:12574508, ECO:0000269|PubMed:12574510, ECO:0000269|PubMed:15196990};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=12-phosphooxy-(9Z)-octadecenoate + H2O = 12-hydroxy-(9Z)-octadecenoate + phosphate; Xref=Rhea:RHEA:45272, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:85141, ChEBI:CHEBI:85150; Evidence={ECO:0000269|PubMed:12574510};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=12-phosphooxy-(9E)-octadecenoate + H2O = 12-hydroxy-(9E)-octadecenoate + phosphate; Xref=Rhea:RHEA:45276, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:85137, ChEBI:CHEBI:85152; Evidence={ECO:0000269|PubMed:12574510};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=12-(phosphooxy)octadecanoate + H2O = 12-hydroxyoctadecanoate + phosphate; Xref=Rhea:RHEA:45280, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:84201, ChEBI:CHEBI:85134; Evidence={ECO:0000269|PubMed:12574510};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=8,9-epoxy-(5Z,11Z,14Z)-eicosatrienoate + H2O = 8,9-dihydroxy-(5Z,11Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:44048, ChEBI:CHEBI:15377, ChEBI:CHEBI:84025, ChEBI:CHEBI:84032; Evidence={ECO:0000269|PubMed:22798687};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=11,12-epoxy-(5Z,8Z,14Z)-eicosatrienoate + H2O = 11,12-dihydroxy-(5Z,8Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:44044, ChEBI:CHEBI:15377, ChEBI:CHEBI:76625, ChEBI:CHEBI:84031; Evidence={ECO:0000269|PubMed:22798687};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=14,15-epoxy-(5Z,8Z,11Z)-eicosatrienoate + H2O = 14,15-dihydroxy-(5Z,8Z,11Z)-eicosatrienoate; Xref=Rhea:RHEA:44040, ChEBI:CHEBI:15377, ChEBI:CHEBI:84024, ChEBI:CHEBI:84029; Evidence={ECO:0000269|PubMed:22798687};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=9,10-epoxy-(12Z)-octadecenoate + H2O = 9,10-dihydroxy-(12Z)-octadecenoate; Xref=Rhea:RHEA:44032, ChEBI:CHEBI:15377, ChEBI:CHEBI:84023, ChEBI:CHEBI:84027; Evidence={ECO:0000269|PubMed:22798687};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=8-hydroxy-(11S,12S)-epoxy-(5Z,9E,14Z)-eicosatrienoate + H2O = (8,11R,12S)-trihydroxy-(5Z,9E,14Z)-eicosatrienoate; Xref=Rhea:RHEA:50896, ChEBI:CHEBI:15377, ChEBI:CHEBI:78100, ChEBI:CHEBI:132127; Evidence={ECO:0000269|PubMed:21217101};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=10-hydroxy-(11S,12S)-epoxy- (5Z,8Z,14Z)-eicosatrienoate + H2O = (10,11S,12R)-trihydroxy-(5Z,8Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:50900, ChEBI:CHEBI:15377, ChEBI:CHEBI:78084, ChEBI:CHEBI:78099; Evidence={ECO:0000269|PubMed:21217101};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-tetradecanoyl-sn-glycerol 3-phosphate + H2O = 1-tetradecanoyl-sn-glycerol + phosphate; Xref=Rhea:RHEA:53592, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:72683, ChEBI:CHEBI:75536; Evidence={ECO:0000269|PubMed:22387545};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-sn-glycero-3-phosphate + H2O = 1-octadecanoyl-sn-glycerol + phosphate; Xref=Rhea:RHEA:53596, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:74565, ChEBI:CHEBI:75550; Evidence={ECO:0000269|PubMed:22217705, ECO:0000269|PubMed:22387545};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + H2O = 1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol + phosphate; Xref=Rhea:RHEA:53600, ChEBI:CHEBI:15377, ChEBI:CHEBI:34071, ChEBI:CHEBI:43474, ChEBI:CHEBI:74938; Evidence={ECO:0000269|PubMed:22217705, ECO:0000269|PubMed:22387545};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-sn-glycero-3-phosphate + H2O = 1-hexadecanoyl-sn-glycerol + phosphate; Xref=Rhea:RHEA:53604, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57518, ChEBI:CHEBI:75542; Evidence={ECO:0000269|PubMed:22217705, ECO:0000269|PubMed:22387545};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H2O = 1-(9Z-octadecenoyl)-sn-glycerol + phosphate; Xref=Rhea:RHEA:39835, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:74544, ChEBI:CHEBI:75757; Evidence={ECO:0000269|PubMed:22217705, ECO:0000269|PubMed:22387545};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(8S,9R)-epoxy-(5Z,11Z,14Z)-eicosatrienoate + H2O = (8S,9S)-dihydroxy-(5Z,11Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:53972, ChEBI:CHEBI:15377, ChEBI:CHEBI:131974, ChEBI:CHEBI:138002; Evidence={ECO:0000250|UniProtKB:P34914};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(11S,12R)-epoxy-(5Z,8Z,14Z)-eicosatrienoate + H2O = (11R,12R)-dihydroxy-(5Z,8Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:53980, ChEBI:CHEBI:15377, ChEBI:CHEBI:131969, ChEBI:CHEBI:138004; Evidence={ECO:0000250|UniProtKB:P34914};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(11S,12R)-epoxy-(5Z,8Z,14Z)-eicosatrienoate + H2O = (11S,12S)-dihydroxy-(5Z,8Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:53984, ChEBI:CHEBI:15377, ChEBI:CHEBI:131969, ChEBI:CHEBI:138005; Evidence={ECO:0000250|UniProtKB:P34914};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(14S,15R)-epoxy-(5Z,8Z,11Z)-eicosatrienoate + H2O = (14R,15R)-dihydroxy-(5Z,8Z,11Z)-eicosatrienoate; Xref=Rhea:RHEA:53992, ChEBI:CHEBI:15377, ChEBI:CHEBI:131964, ChEBI:CHEBI:138003; Evidence={ECO:0000250|UniProtKB:P34914};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(14S,15R)-epoxy-(5Z,8Z,11Z)-eicosatrienoate + H2O = (14S,15S)-dihydroxy-(5Z,8Z,11Z)-eicosatrienoate; Xref=Rhea:RHEA:53996, ChEBI:CHEBI:15377, ChEBI:CHEBI:131964, ChEBI:CHEBI:138006; Evidence={ECO:0000250|UniProtKB:P34914};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(11R,12S)-epoxy-(5Z,8Z,14Z)-eicosatrienoate + H2O = (11S,12S)-dihydroxy-(5Z,8Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:54004, ChEBI:CHEBI:15377, ChEBI:CHEBI:131970, ChEBI:CHEBI:138005; Evidence={ECO:0000250|UniProtKB:P34914};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(11R,12S)-epoxy-(5Z,8Z,14Z)-eicosatrienoate + H2O = (11R,12R)-dihydroxy-(5Z,8Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:54000, ChEBI:CHEBI:15377, ChEBI:CHEBI:131970, ChEBI:CHEBI:138004; Evidence={ECO:0000250|UniProtKB:P34914};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(8S,9R)-epoxy-(5Z,11Z,14Z)-eicosatrienoate + H2O = (8R,9R)-dihydroxy-(5Z,11Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:54016, ChEBI:CHEBI:15377, ChEBI:CHEBI:131974, ChEBI:CHEBI:138008; Evidence={ECO:0000250|UniProtKB:P34914};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(14R,15S)-epoxy-(5Z,8Z,11Z)-eicosatrienoate + H2O = (14R,15R)-dihydroxy-(5Z,8Z,11Z)-eicosatrienoate; Xref=Rhea:RHEA:53976, ChEBI:CHEBI:15377, ChEBI:CHEBI:131965, ChEBI:CHEBI:138003; Evidence={ECO:0000250|UniProtKB:P34914};.
UniProtKB/Swiss-Prot Induction:
By compounds that cause peroxisome proliferation such as clofibrate, tiadenol and fenofibrate.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=21 uM for threo-9,10-phosphonooxy-hydroxy-octadecanoic acid {ECO:0000269|PubMed:12574508, ECO:0000269|PubMed:12574510, ECO:0000269|PubMed:15196990}; KM=1.7 uM for 8,9-EET {ECO:0000269|PubMed:22798687}; KM=3.4 uM for 11,12-EET {ECO:0000269|PubMed:22798687}; KM=15 uM for 14,15-EET {ECO:0000269|PubMed:22798687}; KM=1.5 uM for leukotoxin {ECO:0000269|PubMed:22798687}; KM=1.1 mM for p-nitrophenyl phosphate {ECO:0000269|PubMed:12574508, ECO:0000269|PubMed:12574510, ECO:0000269|PubMed:15196990}; KM=7.3 uM for 8-hydroxy-(11S,12S)-epoxy-(5Z,9E,14Z)-eicosatrienoate {ECO:0000269|PubMed:21217101}; KM=10.8 uM for 10-hydroxy-(11S,12S)-epoxy- (5Z,8Z,14Z)-eicosatrienoate {ECO:0000269|PubMed:21217101}; KM=3 uM for palmitoyl-lysophosphatidic acid {ECO:0000269|PubMed:22217705}; KM=6.4 uM for stearoyl-lysophosphatidic acid {ECO:0000269|PubMed:22217705}; KM=6.2 uM for oleoyl-lysophosphatidic acid {ECO:0000269|PubMed:22217705}; KM=5.9 uM for arachidonoyl-lysophosphatidic acid {ECO:0000269|PubMed:22217705}; KM=5.3 uM for arachidoyl-lysophosphatidic acid {ECO:0000269|PubMed:22217705}; KM=23.5 uM for 1-alkyl lysophosphatidic acid (C18:0) {ECO:0000269|PubMed:22217705}; KM=14.8 uM for sphingosine-1-phosphate {ECO:0000269|PubMed:22217705}; KM=20.9 uM for geranylgeranyl pyrophosphate {ECO:0000269|PubMed:22217705}; KM=10 uM for farnesyl pyro-phosphate {ECO:0000269|PubMed:22387545}; KM=5.1 uM for 1-myristoyl-2-hydroxy-3-glycerophosphate {ECO:0000269|PubMed:22387545}; KM=23 uM for 1-palmityl-2-hydroxy-3-glycerophosphate {ECO:0000269|PubMed:22387545}; KM=4.2 uM for 1-stearyl-2-hydroxy-3-glycerophosphate {ECO:0000269|PubMed:22387545}; KM=6.9 uM for 1-oleoyl-2-hydroxy-3-glycerophosphate {ECO:0000269|PubMed:22387545}; KM=13 uM for 1-arachidonoyl-2-hydroxy-3-glycerophosphate {ECO:0000269|PubMed:22387545}; KM=31 uM for shingosine-1-phosphate {ECO:0000269|PubMed:22387545}; KM=67 uM for N-acetyl-ceramide-phosphate {ECO:0000269|PubMed:22387545}; Vmax=338 nmol/min/mg enzyme with threo-9,10-phosphonooxy-hydroxy-octadecanoic acid {ECO:0000269|PubMed:12574508, ECO:0000269|PubMed:12574510, ECO:0000269|PubMed:15196990}; Vmax=0.9 umol/min/mg enzyme with 8,9-EET as substrate {ECO:0000269|PubMed:22798687}; Vmax=4.5 umol/min/mg enzyme with 11,12-EET as substrate {ECO:0000269|PubMed:22798687}; Vmax=7 umol/min/mg enzyme with 14,15-EET as substrate {ECO:0000269|PubMed:22798687}; Vmax=0.55 umol/min/mg enzyme with leukotoxin as substrate {ECO:0000269|PubMed:22798687}; Vmax=5.8 nmol/min/mg enzyme with p-nitrophenyl phosphate {ECO:0000269|PubMed:12574508, ECO:0000269|PubMed:12574510, ECO:0000269|PubMed:15196990}; Vmax=385 nmol/min/mg enzyme with 8-hydroxy-(11S,12S)-epoxy-(5Z,9E,14Z)-eicosatrienoate as substrate {ECO:0000269|PubMed:21217101}; Vmax=95 nmol/min/mg enzyme with 10-hydroxy-(11S,12S)-epoxy- (5Z,8Z,14Z)-eicosatrienoate as substrate {ECO:0000269|PubMed:21217101}; Vmax=150.4 nmol/min/mg enzyme with palmitoyl-lysophosphatidic acid as substrate {ECO:0000269|PubMed:22217705}; Vmax=193.5 nmol/min/mg enzyme with stearoyl-lysophosphatidic acid as substrate {ECO:0000269|PubMed:22217705}; Vmax=191.6 nmol/min/mg enzyme with oleoyl-lysophosphatidic acid as substrate {ECO:0000269|PubMed:22217705}; Vmax=157.9 nmol/min/mg enzyme with arachidonoyl-lysophosphatidic acid as substrate {ECO:0000269|PubMed:22217705}; Vmax=26.8 nmol/min/mg enzyme with arachidoyl-lysophosphatidic acid as substrate {ECO:0000269|PubMed:22217705}; Vmax=171.1 nmol/min/mg enzyme with 1-alkyl lysophosphatidic acid (C18:0) as substrate {ECO:0000269|PubMed:22217705}; Vmax=60.6 nmol/min/mg enzyme with sphingosine-1-phosphate as substrate {ECO:0000269|PubMed:22217705}; Vmax=101.3 nmol/min/mg enzyme with geranylgeranyl pyrophosphate as substrate {ECO:0000269|PubMed:22217705}; Note=kcat are 14 sec(-1), 354 sec(-1), 167 sec(-1), 125 sec(-1), 177 sec(-1), 250 sec(-1), 18 sec(-1) and 136 sec(-1) for farnesyl pyro-phosphate, 1-myristoyl-2-hydroxy-3-glycerophosphate, 1-palmityl-2-hydroxy-3-glycerophosphate, 1-stearyl-2-hydroxy-3-glycerophosphate, 1-oleoyl-2-hydroxy-3-glycerophosphate, 1-arachidonoyl-2-hydroxy-3-glycerophosphate, shingosine-1-phosphate and N-acetyl-ceramide-phosphate, respectively. {ECO:0000269|PubMed:22387545};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 1-(1-acetylpiperidin-4-yl)-3-(4-(trifl uoromethoxy)phenyl)urea (TPAU), 1-cyclohexyl-3-dodecylurea (CDU), 12-(3-adamantan-1-yl-ureido)-dodecanoic acid (AUDA), 1-((3S, 5S, 7S)-adamantan-1-yl)-3-(5-(2-(2-ethoxyethoxy) ethoxy)pentyl)urea (AEPU), N-adamantyl-N[']-cyclohexyl urea (ACU), 4-(((1S, 4S)-4-(3-((3S, 5S, 7S)-adamantan-1-yl) ureido)cyclohexyl)oxy)benzoic acid (c-AUCB), 4-(((1R, 4R)-4-(3-((3S, 5S, 7S)-adamantan-1-yl)ureido)cyclohexyl)oxy)benzoic acid (t-AUCB), 4-(((1R, 4R)-4-(3-(4(trifluoromethoxy)phenyl)ureido)cyclohexyl)oxy)benzoic acid (t-TAUCB) and to a lesser extent by 8-(3-((3S, 5S, 7S)-adamantan-1-yl)ureido) octanoic acid (AUOA). Phosphatase activity is inhibited by dodecyl-phosphate, phospholipids such as phospho-lysophosphatidic acids and fatty acids such as palmitic acid and lauric acid (PubMed:22217705, PubMed:22387545).
GENATLAS Biochemistry:
epoxyde hydrolase,soluble

Phenotypes From GWAS Catalog for EPHX2 Gene

Gene Ontology (GO) - Molecular Function for EPHX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IBA,IDA 12574510
GO:0003824 catalytic activity IEA --
GO:0004301 epoxide hydrolase activity IEA,IDA 8342951
GO:0015643 toxic substance binding IDA 15096040
GO:0016787 hydrolase activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with EPHX2: view
genes like me logo Genes that share phenotypes with EPHX2: view

Human Phenotype Ontology for EPHX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPHX2 Gene

MGI Knock Outs for EPHX2:

Animal Models for research

  • Taconic Biosciences Mouse Models for EPHX2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPHX2

Clone products for research

  • Addgene plasmids for EPHX2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EPHX2 Gene

Localization for EPHX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPHX2 Gene

Cytoplasm. Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPHX2 gene
Compartment Confidence
peroxisome 5
cytosol 5
extracellular 4
endoplasmic reticulum 3
plasma membrane 2
mitochondrion 2
nucleus 2
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EPHX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005777 peroxisome IBA,IDA 16314446
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol IDA,TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with EPHX2: view

Pathways & Interactions for EPHX2 Gene

genes like me logo Genes that share pathways with EPHX2: view

Pathways by source for EPHX2 Gene

3 GeneGo (Thomson Reuters) pathways for EPHX2 Gene
  • ATP/ITP metabolism
  • HETE and HPETE biosynthesis and metabolism
  • Naphthalene metabolism

Gene Ontology (GO) - Biological Process for EPHX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome TAS --
GO:0006629 lipid metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0009636 response to toxic substance IEA --
GO:0010628 positive regulation of gene expression IDA 18974052
genes like me logo Genes that share ontologies with EPHX2: view

No data available for SIGNOR curated interactions for EPHX2 Gene

Drugs & Compounds for EPHX2 Gene

(50) Drugs for EPHX2 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
4-{[(CYCLOHEXYLAMINO)CARBONYL]AMINO}BUTANOIC ACID Experimental Pharma Target 0
6-{[(CYCLOHEXYLAMINO)CARBONYL]AMINO}HEXANOIC ACID Experimental Pharma Target 0
7-{[(CYCLOHEXYLAMINO)CARBONYL]AMINO}HEPTANOIC ACID Experimental Pharma Target 0

(56) Additional Compounds for EPHX2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(9S,10S)-10-hydroxy-9-(phosphonooxy)octadecanoate
  • (9S,10S)-10-Hydroxy-9-(phosphonooxy)stearic acid
  • (9S,10S)-10-Hydroxy-9-(phosphonooxy)stearate
  • (9S,10S)-10-Hydroxy-9-(phosphonooxy)octadecanoic acid
  • (9S,10S)-10-Hydroxy-9-(phosphonooxy)octadecanoate
(9S,10S)-9,10-dihydroxyoctadecanoate
  • (9S,10S)-9,10-Dihydroxystearic acid
  • (9S,10S)-Dihydroxdyoctadecanoic acid
  • (9S,10S)-Dihydroxystearic acid
  • (S,S)-9,10-Dihydroxystearic acid
  • (9S,10S)-9,10-Dihydroxystearate
11,12-DiHETrE
  • (+/-)11,12-dihetre
  • (5Z,8Z,14Z)-11,12-Dihydroxyeicosa-5,8,14-trienoic acid
  • (5Z,8Z,14Z)-11,12-Dihydroxyicosa-5,8,14-trienoic acid
  • 11,12-DHET
  • 11,12-Dihydroxy-5Z,8Z,14Z-eicosatrienoic acid
192461-95-3
11,12-Epoxyeicosatrienoic acid
  • (11S,12R)-EpETrE
  • (11S,12R)-Epoxy-(5Z,8Z,14Z)-eicosatrienoic acid
  • (11S,12R)-Epoxy-(5Z,8Z,14Z)-icosatrienoic acid
  • 11(S),12(R)-EET
  • 11(S),12(R)-EpETrE
123931-40-8
14,15-DiHETrE
  • (5Z,8Z,11Z)-14,15-Dihydroxyeicosa-5,8,11-trienoic acid
  • (5Z,8Z,11Z)-14,15-Dihydroxyicosa-5,8,11-trienoic acid
  • 14,15-Dihydroxy-5Z,8Z,11Z-eicosatrienoic acid
  • 14,15-Dihydroxyeicosatrienoic acid
  • (5Z,8Z,11Z)-14,15-Dihydroxyeicosa-5,8,11-trienoate
77667-09-5
genes like me logo Genes that share compounds with EPHX2: view

Transcripts for EPHX2 Gene

mRNA/cDNA for EPHX2 Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPHX2

Clone products for research

  • Addgene plasmids for EPHX2

Alternative Splicing Database (ASD) splice patterns (SP) for EPHX2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^
SP1: - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6: -
SP7: -
SP8: - - - -
SP9: - - -
SP10:
SP11:

ExUns: 18 ^ 19 ^ 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for EPHX2 Gene

GeneLoc Exon Structure for
EPHX2

Expression for EPHX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPHX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPHX2 Gene

This gene is overexpressed in Liver (x7.9).

Protein differential expression in normal tissues from HIPED for EPHX2 Gene

This gene is overexpressed in Liver, secretome (10.9) and Liver (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPHX2 Gene



Protein tissue co-expression partners for EPHX2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPHX2

SOURCE GeneReport for Unigene cluster for EPHX2 Gene:

Hs.212088

Evidence on tissue expression from TISSUES for EPHX2 Gene

  • Kidney(4.8)
  • Liver(4.6)
  • Lung(4.4)
  • Nervous system(4)
  • Intestine(2.8)
  • Heart(2.6)
  • Skin(2.5)
  • Muscle(2.5)
  • Blood(2.5)
  • Adrenal gland(2.2)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPHX2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
Regions:
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • liver
  • small intestine
General:
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with EPHX2: view

No data available for mRNA Expression by UniProt/SwissProt for EPHX2 Gene

Orthologs for EPHX2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EPHX2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EPHX2 29 30
  • 99.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EPHX2 29 30
  • 84.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EPHX2 29 30
  • 83.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ephx2 29
  • 79.32 (n)
Mouse
(Mus musculus)
Mammalia Ephx2 29 16 30
  • 79.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EPHX2 30
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EPHX2 30
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EPHX2 29 30
  • 62.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EPHX2 30
  • 47 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ephx2 29
  • 62.07 (n)
Str.6967 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.18049 29
Zebrafish
(Danio rerio)
Actinopterygii ephx2 29 30
  • 56.22 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea ceeh-2 30
  • 25 (a)
ManyToMany
ceeh-1 30
  • 23 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G51000 29
  • 47.6 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0636400 29
  • 47.17 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 25 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1281 29
Species where no ortholog for EPHX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EPHX2 Gene

ENSEMBL:
Gene Tree for EPHX2 (if available)
TreeFam:
Gene Tree for EPHX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPHX2: view image
Alliance of Genome Resources:
Additional Orthologs for EPHX2

Paralogs for EPHX2 Gene

(1) SIMAP similar genes for EPHX2 Gene using alignment to 5 proteins:

  • HYES_HUMAN
  • E5RFH6_HUMAN
  • E5RFU2_HUMAN
  • E5RI53_HUMAN
  • H0YAW7_HUMAN
genes like me logo Genes that share paralogs with EPHX2: view

Variants for EPHX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPHX2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
1030498 Uncertain Significance: Familial hypercholesterolemia 1 27,506,924(+) G/C
NM_001979.6(EPHX2):c.590G>C (p.Gly197Ala)
MISSENSE
rs1291864681 Uncertain Significance: not provided 27,536,828(+) CAA/C
NM_001979.6(EPHX2):c.1218_1219del (p.Ser407fs)
FRAMESHIFT
rs148997097 Uncertain Significance: not provided 27,540,575(+) C/T
NM_001979.6(EPHX2):c.1298C>T (p.Pro433Leu)
MISSENSE
rs199656145 Uncertain Significance: not provided 27,544,504(+) G/A
NM_001979.6(EPHX2):c.1650G>A (p.Pro550=)
SYNONYMOUS
rs202141435 Uncertain Significance: not provided 27,516,403(+) G/A
NM_001979.6(EPHX2):c.910+5G>A
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EPHX2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EPHX2 Gene

Variant ID Type Subtype PubMed ID
esv28788 CNV loss 19812545
nsv1020582 CNV gain 25217958
nsv437612 CNV loss 16327808
nsv472491 CNV novel sequence insertion 20440878
nsv610866 CNV loss 21841781
nsv831275 CNV loss 17160897

Variation tolerance for EPHX2 Gene

Residual Variation Intolerance Score: 98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.72; 86.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPHX2 Gene

Human Gene Mutation Database (HGMD)
EPHX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPHX2
Leiden Open Variation Database (LOVD)
EPHX2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPHX2 Gene

Disorders for EPHX2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for EPHX2 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
hypercholesterolemia, familial, 1
  • fhcl1
familial hypercholesterolemia
  • familial hyperbetalipoproteinaemia
homozygous familial hypercholesterolemia
  • hofh
staphyloenterotoxemia
  • staphylococcal food poisoning
pyomyositis
  • tropical pyomyositis
- elite association - COSMIC cancer census association via MalaCards
Search EPHX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPHX2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with EPHX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPHX2 Gene

Publications for EPHX2 Gene

  1. Association of soluble epoxide hydrolase gene polymorphism with insulin resistance in type 2 diabetic patients. (PMID: 15845398) Ohtoshi K … Yamasaki Y (Biochemical and biophysical research communications 2005) 3 22 40 72
  2. Polymorphism of the soluble epoxide hydrolase is associated with coronary artery calcification in African-American subjects: The Coronary Artery Risk Development in Young Adults (CARDIA) study. (PMID: 14732757) Fornage M … Wong ND (Circulation 2004) 3 22 40 72
  3. Identification and functional characterization of human soluble epoxide hydrolase genetic polymorphisms. (PMID: 10862610) Sandberg M … Omiecinski CJ (The Journal of biological chemistry 2000) 3 4 22 72
  4. Homozygosity for the EPHX2 K55R polymorphism increases the long-term risk of ischemic stroke in men: a study in Swedes. (PMID: 20065888) Fava C … Melander O (Pharmacogenetics and genomics 2010) 3 22 40
  5. Genetic variations in soluble epoxide hydrolase and graft function in kidney transplantation. (PMID: 18589104) Lee SH … Kim YS (Transplantation proceedings 2008) 3 22 40

Products for EPHX2 Gene

Sources for EPHX2 Gene