Human Gene EPHX2 (ENST00000521400.6) from GENCODE V44
  Description: Homo sapiens epoxide hydrolase 2 (EPHX2), transcript variant 1, mRNA. (from RefSeq NM_001979)
RefSeq Summary (NM_001979): 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].
Gencode Transcript: ENST00000521400.6
Gencode Gene: ENSG00000120915.14
Transcript (Including UTRs)
   Position: hg38 chr8:27,491,143-27,545,564 Size: 54,422 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg38 chr8:27,491,209-27,544,522 Size: 53,314 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:27,491,143-27,545,564)mRNA (may differ from genome)Protein (555 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HYES_HUMAN
DESCRIPTION: RecName: Full=Bifunctional epoxide hydrolase 2; Includes: RecName: Full=Cytosolic epoxide hydrolase 2; Short=CEH; EC=3.3.2.10; AltName: Full=Epoxide hydratase; AltName: Full=Soluble epoxide hydrolase; Short=SEH; Includes: RecName: Full=Lipid-phosphate phosphatase; EC=3.1.3.76;
FUNCTION: Bifunctional enzyme. The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides. Plays a role in xenobiotic metabolism by degrading potentially toxic epoxides. Also determines steady-state levels of physiological mediators. 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, 12-phosphonooxy-octadec-9E-enoic acid, and p-nitrophenyl phospate.
CATALYTIC ACTIVITY: An epoxide + H(2)O = a glycol.
CATALYTIC ACTIVITY: (9S,10S)-10-hydroxy-9- (phosphonooxy)octadecanoate + H(2)O = (9S,10S)-9,10- dihydroxyoctadecanoate + phosphate.
COFACTOR: Magnesium.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=21 uM for threo-9,10-phosphonooxy-hydroxy-octadecanoic acid; KM=1.1 mM for p-nitrophenyl phosphate; Vmax=338 nmol/min/mg enzyme with threo-9,10-phosphonooxy- hydroxy-octadecanoic acid; Vmax=5.8 nmol/min/mg enzyme with p-nitrophenyl phosphate;
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Cytoplasm. Peroxisome.
INDUCTION: By compounds that cause peroxisome proliferation such as clofibrate, tiadenol and fenofibrate.
DOMAIN: The N-terminal domain has phosphatase activity. The C- terminal domain has epoxide hydrolase activity.
PTM: The N-terminus is blocked.
PTM: 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).
SIMILARITY: Belongs to the AB hydrolase superfamily. Epoxide hydrolase family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ephx2/";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EPHX2
Diseases sorted by gene-association score: hypercholesterolemia, familial* (288), fetal hydantoin syndrome (19), splenic abscess (10), staphyloenterotoxemia (10), reticulohistiocytic granuloma (9)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.06 RPKM in Liver
Total median expression: 529.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.5066-0.356 Picture PostScript Text
3' UTR -356.301042-0.342 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000073 - AB_hydrolase_1
IPR000639 - Epox_hydrolase-like
IPR023214 - HAD-like_dom
IPR006402 - HAD-SF_hydro_IA_v3
IPR011945 - HAD-SF_ppase_IA/epoxid_hydro_N

Pfam Domains:
PF00561 - alpha/beta hydrolase fold

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1S8O - X-ray MuPIT 1VJ5 - X-ray MuPIT 1ZD2 - X-ray MuPIT 1ZD3 - X-ray MuPIT 1ZD4 - X-ray MuPIT 1ZD5 - X-ray MuPIT 3ANS - X-ray MuPIT 3ANT - X-ray MuPIT 3I1Y - X-ray MuPIT 3I28 - X-ray MuPIT 3KOO - X-ray MuPIT 3OTQ - X-ray MuPIT 3PDC - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P34913
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0003824 catalytic activity
GO:0004301 epoxide hydrolase activity
GO:0005102 receptor binding
GO:0015643 toxic substance binding
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0033885 10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity
GO:0042577 lipid phosphatase activity
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding

Biological Process:
GO:0006625 protein targeting to peroxisome
GO:0006629 lipid metabolic process
GO:0006805 xenobiotic metabolic process
GO:0006874 cellular calcium ion homeostasis
GO:0006954 inflammatory response
GO:0008152 metabolic process
GO:0008217 regulation of blood pressure
GO:0009636 response to toxic substance
GO:0010628 positive regulation of gene expression
GO:0016311 dephosphorylation
GO:0017144 drug metabolic process
GO:0019373 epoxygenase P450 pathway
GO:0019439 aromatic compound catabolic process
GO:0042632 cholesterol homeostasis
GO:0042759 long-chain fatty acid biosynthetic process
GO:0046272 stilbene catabolic process
GO:0046839 phospholipid dephosphorylation
GO:0072593 reactive oxygen species metabolic process
GO:0090181 regulation of cholesterol metabolic process
GO:0097176 epoxide metabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005777 peroxisome
GO:0005782 peroxisomal matrix
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK310507 - Homo sapiens cDNA, FLJ17549.
BC011628 - Homo sapiens epoxide hydrolase 2, cytoplasmic, mRNA (cDNA clone MGC:10543 IMAGE:4053931), complete cds.
AK096089 - Homo sapiens cDNA FLJ38770 fis, clone KIDNE2016000, highly similar to Epoxide hydrolase 2 (EC 3.3.2.3).
AK096770 - Homo sapiens cDNA FLJ39451 fis, clone PROST2009273, highly similar to Epoxide hydrolase 2 (EC 3.3.2.3).
AF233334 - Homo sapiens clone 129-8 soluble epoxide hydrolase (EPHX2) mRNA, complete cds.
AF233335 - Homo sapiens clone 118-2 soluble epoxide hydrolase (EPHX2) mRNA, complete cds.
AF233336 - Homo sapiens clone 129-13 soluble epoxide hydrolase (EPHX2) mRNA, complete cds.
BC007708 - Homo sapiens epoxide hydrolase 2, cytoplasmic, mRNA (cDNA clone MGC:11288 IMAGE:3946158), complete cds.
BC013874 - Homo sapiens epoxide hydrolase 2, cytoplasmic, mRNA (cDNA clone MGC:10466 IMAGE:3938557), complete cds.
AK303904 - Homo sapiens cDNA FLJ54951 complete cds, highly similar to Epoxide hydrolase 2 (EC 3.3.2.3).
AK308041 - Homo sapiens cDNA, FLJ97989.
AK294065 - Homo sapiens cDNA FLJ59619 complete cds, highly similar to Epoxide hydrolase 2 (EC 3.3.2.3).
L05779 - Human cytosolic epoxide hydrolase mRNA, complete cds.
AB590180 - Synthetic construct DNA, clone: pFN21AB5020, Homo sapiens EPHX2 gene for epoxide hydrolase 2, cytoplasmic, without stop codon, in Flexi system.
DQ892749 - Synthetic construct clone IMAGE:100005379; FLH189337.01X; RZPDo839E0174D epoxide hydrolase 2, cytoplasmic (EPHX2) gene, encodes complete protein.
DQ895995 - Synthetic construct Homo sapiens clone IMAGE:100010455; FLH189333.01L; RZPDo839E0164D epoxide hydrolase 2, cytoplasmic (EPHX2) gene, encodes complete protein.
KJ891116 - Synthetic construct Homo sapiens clone ccsbBroadEn_00510 EPHX2 gene, encodes complete protein.
KR710041 - Synthetic construct Homo sapiens clone CCSBHm_00009194 EPHX2 (EPHX2) mRNA, encodes complete protein.
KR710042 - Synthetic construct Homo sapiens clone CCSBHm_00009196 EPHX2 (EPHX2) mRNA, encodes complete protein.
KR710043 - Synthetic construct Homo sapiens clone CCSBHm_00009197 EPHX2 (EPHX2) mRNA, encodes complete protein.
KR710044 - Synthetic construct Homo sapiens clone CCSBHm_00009198 EPHX2 (EPHX2) mRNA, encodes complete protein.
BT006885 - Homo sapiens epoxide hydrolase 2, cytoplasmic mRNA, complete cds.
AK094393 - Homo sapiens cDNA FLJ37074 fis, clone BRACE2015741, highly similar to SOLUBLE EPOXIDE HYDROLASE (SEH) (EC 3.3.2.3).
JD360840 - Sequence 341864 from Patent EP1572962.
JD299493 - Sequence 280517 from Patent EP1572962.
JD042534 - Sequence 23558 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00590 - Arachidonic acid metabolism
hsa01100 - Metabolic pathways
hsa04146 - Peroxisome

BioCarta from NCI Cancer Genome Anatomy Project
h_eicosanoidPathway - Eicosanoid Metabolism

Reactome (by CSHL, EBI, and GO)

Protein P34913 (Reactome details) participates in the following event(s):

R-HSA-9033233 PEX5S,L binds cargo proteins containing PTS1
R-HSA-2161961 EET(1) is hydrolysed to DHET(1) by EPHX2
R-HSA-9024993 EPHX2 dimer hydrolyses 13(S),14(S)-epoxy-DHA to MaR2
R-HSA-9033236 PEX5S,L:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex)
R-HSA-9033241 Peroxisomal protein import
R-HSA-2142670 Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
R-HSA-9018682 Biosynthesis of maresins
R-HSA-392499 Metabolism of proteins
R-HSA-2142753 Arachidonic acid metabolism
R-HSA-9018677 Biosynthesis of DHA-derived SPMs
R-HSA-8978868 Fatty acid metabolism
R-HSA-9018678 Biosynthesis of specialized proresolving mediators (SPMs)
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2Z3B1, ENST00000521400.1, ENST00000521400.2, ENST00000521400.3, ENST00000521400.4, ENST00000521400.5, HYES_HUMAN, NM_001979, P34913, Q16764, Q9HBJ1, Q9HBJ2, uc003xfu.1, uc003xfu.2, uc003xfu.3, uc003xfu.4, uc003xfu.5, uc003xfu.6
UCSC ID: ENST00000521400.6
RefSeq Accession: NM_001979
Protein: P34913 (aka HYES_HUMAN)
CCDS: CCDS6060.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.