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
  • Bifunctional Epoxide Hydrolase 2 3 4
  • Epoxide Hydrolase 2, Cytoplasmic 2 3
  • Epoxide Hydrolase 2, Cytosolic 3
  • Epoxide Hydrolase, Soluble 3
  • Epoxide Hydratase 3
  • ABHD20 3
  • 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 Peroxisome 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). 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).

Gene Wiki entry for EPHX2 Gene

Additional gene information 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 for EPHX2 Gene

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 790 +0.4 366 8.1 SIN3A FOXA1 MLX RBPJ SMARCE1 POLR2A NR2F1 NR2F6 CREB1 MIXL1 EPHX2 CHRNA2 piR-39891-074
GH08J027495 Enhancer 0.9 Ensembl ENCODE 40.5 +6.4 6414 3.5 SMARCE1 L3MBTL2 ZNF148 CBFA2T2 SMARCA4 TRIM24 MTA1 IKZF1 DPF2 PKNOX1 piR-39891-074 EPHX2 lnc-PTK2B-1
GH08J027330 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.4 -157.1 -157080 6.2 SIN3A MLX SMARCE1 RBPJ NR2F1 NR2F6 CREB1 MYC CC2D1A ETV6 PTK2B TRIM35 EPHX2 CLU CHRNA2 lnc-EPHX2-5 lnc-EPHX2-4 RF00017-6906
GH08J027514 Enhancer 0.6 Ensembl ENCODE 45 +24.6 24626 2.4 CTCF CC2D1A L3MBTL2 RAD21 REST EPHX2 CHRNA2 CLU piR-42171 piR-61580-602
GH08J027397 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -82.7 -82678 19.8 ETV6 HLF MAX SP1 CREM IKZF1 CREB1 ZNF512 IKZF2 REST FJ601684-442 PTK2B EPHX2 TRIM35 CHRNA2 CLU STMN4 piR-56037-080 RF00017-6907
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for EPHX2 Gene
chr8:27,490,779-27,545,564
(GRCh38/hg38)
Size:
54,786 bases
Orientation:
Plus strand
chr8:27,348,296-27,403,081
(GRCh37/hg19)
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

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). 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).
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 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).
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}; 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};
UniProtKB/Swiss-Prot Induction:
By compounds that cause peroxisome proliferation such as clofibrate, tiadenol and fenofibrate.
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 IDA 12574510
GO:0003824 catalytic activity IEA --
GO:0004301 epoxide hydrolase activity IDA,IBA 8342951
GO:0015643 toxic substance binding IDA,IBA 15096040
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with EPHX2: view
genes like me logo Genes that share phenotypes with EPHX2: view

Animal Models for EPHX2 Gene

MGI Knock Outs for EPHX2:

Animal Model Products

  • Taconic Biosciences Mouse Models for EPHX2

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for EPHX2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
nucleus 1
plasma membrane 0
lysosome 0

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 IDA,IBA 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

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:0006805 xenobiotic metabolic process NAS 10862610
GO:0006874 cellular calcium ion homeostasis NAS 10862610
GO:0006954 inflammatory response NAS 10862610
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

(49) 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
Phosphoric acid Approved 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

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

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)octadecanoate
(9S,10S)-9,10-dihydroxyoctadecanoate
  • (9S,10S)-Dihydroxdyoctadecanoic acid
  • (9S,10S)-Dihydroxystearic acid
  • (S,S)-9,10-Dihydroxystearic acid
  • (9S,10S)-Dihydroxdyoctadecanoate
  • (9S,10S)-9,10-Dihydroxyoctadecanoate
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-Dihydroxy-5Z,8Z,14Z-eicosatrienoic acid
  • 11,12-Dihydroxyeicosatrienoic acid
192461-95-3
11,12-EpETrE
  • (+/-)11(12)-eet
  • (+/-)11(12)-epetre
  • (+/-)11,12-epetre
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoic acid
81276-02-0
14,15-DiHETrE
  • (+/-)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
77667-09-5
genes like me logo Genes that share compounds with EPHX2: view

Transcripts for EPHX2 Gene

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • 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
ECgene alternative splicing isoforms for
EPHX2

Expression for EPHX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of EPHX2 Gene:

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(4.3)
  • Nervous system(3.9)
  • Intestine(2.4)
  • Blood(2.2)
  • Heart(2.2)
  • Muscle(2.1)
  • Adrenal gland(2)
  • Skin(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 33 32
  • 99.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPHX2 33 32
  • 84.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPHX2 33 32
  • 83.12 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ephx2 32
  • 79.32 (n)
mouse
(Mus musculus)
Mammalia Ephx2 17 33 32
  • 79.08 (n)
oppossum
(Monodelphis domestica)
Mammalia EPHX2 33
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPHX2 33
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPHX2 33 32
  • 62.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPHX2 33
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ephx2 32
  • 62.07 (n)
Str.6967 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.18049 32
zebrafish
(Danio rerio)
Actinopterygii ephx2 33 32
  • 56.22 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ceeh-2 33
  • 25 (a)
ManyToMany
ceeh-1 33
  • 23 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G51000 32
  • 47.6 (n)
rice
(Oryza sativa)
Liliopsida Os12g0636400 32
  • 47.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 25 (a)
ManyToMany
Cin.1281 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1281 32
Species where no ortholog for EPHX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

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 from dbSNP and Humsavar for EPHX2 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs751141 risk-factor, Familial hypercholesterolemia, - 27,516,348(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000081080 -- 27,523,385(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000108 -- 27,572,132(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000137694 -- 27,529,347(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000142811 -- 27,557,239(+) G/C genic_downstream_transcript_variant, intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EPHX2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for EPHX2 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypercholesterolemia, familial, 1
  • fhcl1
familial hypercholesterolemia
  • hyperlipoproteinemia, type ii
fetal hydantoin syndrome
  • dilantin embryopathy
staphyloenterotoxemia
  • staphylococcal food poisoning
reticulohistiocytic granuloma
  • reticulohistiocytoma
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 23 43 56
  2. Genetic variation in soluble epoxide hydrolase (EPHX2) is associated with an increased risk of ischemic stroke in white Europeans. (PMID: 18323494) Gschwendtner A … Dichgans M (Stroke 2008) 3 23 43 56
  3. Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study. (PMID: 18537101) Burdon KP … Bowden DW (Diabetes & vascular disease research 2008) 3 23 43 56
  4. Genetic variations in soluble epoxide hydrolase and graft function in kidney transplantation. (PMID: 18589104) Lee SH … Kim YS (Transplantation proceedings 2008) 3 23 43 56
  5. Sequence variation in the soluble epoxide hydrolase gene and subclinical coronary atherosclerosis: interaction with cigarette smoking. (PMID: 16545818) Wei Q … Fornage M (Atherosclerosis 2007) 3 23 43 56

Products for EPHX2 Gene

Sources for EPHX2 Gene