• Gene id: 2053

Gene Summary

• Gene Symbol: EPHX2   Gene   UCSC   Ensembl
• Aliases: CEH, SEH
• Gene name: epoxide hydrolase 2
• Alternate names: bifunctional epoxide hydrolase 2, epoxide hydratase, epoxide hydrolase 2, cytoplasmic, epoxide hydrolase 2, cytosolic, epoxide hydrolase, soluble,
• Gene location: 8p21.2-p21.1 (27491001: 27597558)     Exons: 22     NC_000008.11
• Gene summary(Entrez): 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 h
• OMIM: 132811

SNPs

rs1042064

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.27544615T>C
NC_000008.10   g.27402132T>C
NG_012064.1   g.58488T>C
NM_001979.6   c.*93T>C
NM_001979.5   c.*93T>C
NM_001256484.2   c.*93T>C
NM_001256484.1   c.*93T>C
NM_001256482.2   c.*93T>C
NM_001256482.1   c.*93T>C
NM_001256483.2   c.*93T>C
NM_00125648  

Protein Summary

• Protein general information: P34913  
  • Name: Bifunctional epoxide hydrolase 2 [Includes: Cytosolic epoxide hydrolase 2 (CEH) (EC 3.3.2.10) (Epoxide hydratase) (Soluble epoxide hydrolase) (SEH); Lipid phosphate phosphatase (EC 3.1.3.76)]
  • Length: 555  
  • Mass: 62,616
• Sequence:

  MTLRAAVFDLDGVLALPAVFGVLGRTEEALALPRGLLNDAFQKGGPEGATTRLMKGEITLSQWIPLMEENCRKCS
  ETAKVCLPKNFSIKEIFDKAISARKINRPMLQAALMLRKKGFTTAILTNTWLDDRAERDGLAQLMCELKMHFDFL
  IESCQVGMVKPEPQIYKFLLDTLKASPSEVVFLDDIGANLKPARDLGMVTILVQDTDTALKELEKVTGIQLLNTP
  APLPTSCNPSDMSHGYVTVKPRVRLHFVELGSGPAVCLCHGFPESWYSWRYQIPALAQAGYRVLAMDMKGYGESS
  APPEIEEYCMEVLCKEMVTFLDKLGLSQAVFIGHDWGGMLVWYMALFYPERVRAVASLNTPFIPANPNMSPLESI
  KANPVFDYQLYFQEPGVAEAELEQNLSRTFKSLFRASDESVLSMHKVCEAGGLFVNSPEEPSLSRMVTEEEIQFY
  VQQFKKSGFRGPLNWYRNMERNWKWACKSLGRKILIPALMVTAEKDFVLVPQMSQHMEDWIPHLKRGHIEDCGHW
  TQMDKPTEVNQILIKWLDSDARNPPVVSKM

• Structural information:
  • Protein Domains: AB (259-531)
  • Interpro: IPR029058  IPR000073  IPR000639  IPR036412  IPR006439   IPR011945  IPR023214  IPR023198  
  • PDB: 1S8O 1VJ5 1ZD2 1ZD3 1ZD4 1ZD5 3ANS 3ANT 3I1Y 3I28 3KOO 3OTQ 3PDC 3WK4 3WK5 3WK6 3WK7 3WK8 3WK9 3WKA 3WKB 3WKC 3WKD 3WKE 4C4X 4C4Y 4C4Z 4HAI 4J03 4JNC 4OCZ 4OD0 4X6X 4X6Y 4Y2J 4Y2P 4Y2Q 4Y2R 4Y2S 4Y2T 4Y2U 4Y2V 4Y2X 4Y2Y 5AHX 5AI0 5AI4 5AI5 5AI6 5AI8 5AI9
  • PDBsum: 1S8O 1VJ5 1ZD2 1ZD3 1ZD4 1ZD5 3ANS 3ANT 3I1Y 3I28 3KOO 3OTQ 3PDC 3WK4 3WK5 3WK6 3WK7 3WK8 3WK9 3WKA 3WKB 3WKC 3WKD 3WKE 4C4X 4C4Y 4C4Z 4HAI 4J03 4JNC 4OCZ 4OD0 4X6X 4X6Y 4Y2J 4Y2P 4Y2Q 4Y2R 4Y2S 4Y2T 4Y2U 4Y2V 4Y2X 4Y2Y 5AHX 5AI0 5AI4 5AI5 5AI6 5AI8 5AI9
  • STRING: ENSP00000430269
• Other Databases: GeneCards:  EPHX2  Malacards:  EPHX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0004301	epoxide hydrolase activity	IDA	molecular function
GO:0004301	epoxide hydrolase activity	IDA	molecular function
GO:0004301	epoxide hydrolase activity	TAS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005829	cytosol	NAS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006805	xenobiotic metabolic process	NAS	biological process
GO:0006874	cellular calcium ion homeostasis	NAS	biological process
GO:0006954	inflammatory response	NAS	biological process
GO:0008217	regulation of blood pressure	NAS	biological process
GO:0009636	response to toxic substance	NAS	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0015643	toxic substance binding	IDA	molecular function
GO:0016311	dephosphorylation	IDA	biological process
GO:0016791	phosphatase activity	IDA	molecular function
GO:0016791	phosphatase activity	IDA	molecular function
GO:0017144	drug metabolic process	NAS	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0033885	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity	IEA	molecular function
GO:0042577	lipid phosphatase activity	IDA	molecular function
GO:0042632	cholesterol homeostasis	IDA	biological process
GO:0042803	protein homodimerization activity	NAS	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0045909	positive regulation of vasodilation	NAS	biological process
GO:0046272	stilbene catabolic process	IDA	biological process
GO:0046839	phospholipid dephosphorylation	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072593	reactive oxygen species metabolic process	NAS	biological process
GO:0090181	regulation of cholesterol metabolic process	IMP	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004301	epoxide hydrolase activity	IEA	molecular function
GO:0004301	epoxide hydrolase activity	IDA	molecular function
GO:0004301	epoxide hydrolase activity	IDA	molecular function
GO:0004301	epoxide hydrolase activity	TAS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005829	cytosol	NAS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006805	xenobiotic metabolic process	NAS	biological process
GO:0006874	cellular calcium ion homeostasis	NAS	biological process
GO:0006954	inflammatory response	NAS	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0008217	regulation of blood pressure	NAS	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0009636	response to toxic substance	NAS	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0015643	toxic substance binding	IDA	molecular function
GO:0016311	dephosphorylation	IDA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016791	phosphatase activity	IDA	molecular function
GO:0016791	phosphatase activity	IDA	molecular function
GO:0017144	drug metabolic process	NAS	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0019439	aromatic compound catabolic process	IEA	biological process
GO:0033885	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity	IEA	molecular function
GO:0042577	lipid phosphatase activity	IDA	molecular function
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0042632	cholesterol homeostasis	IDA	biological process
GO:0042803	protein homodimerization activity	NAS	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0045909	positive regulation of vasodilation	NAS	biological process
GO:0046272	stilbene catabolic process	IDA	biological process
GO:0046839	phospholipid dephosphorylation	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072593	reactive oxygen species metabolic process	NAS	biological process
GO:0090181	regulation of cholesterol metabolic process	IEA	biological process
GO:0090181	regulation of cholesterol metabolic process	IMP	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0004301	epoxide hydrolase activity	IDA	molecular function
GO:0004301	epoxide hydrolase activity	IDA	molecular function
GO:0004301	epoxide hydrolase activity	TAS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005829	cytosol	NAS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006805	xenobiotic metabolic process	NAS	biological process
GO:0006874	cellular calcium ion homeostasis	NAS	biological process
GO:0006954	inflammatory response	NAS	biological process
GO:0008217	regulation of blood pressure	NAS	biological process
GO:0009636	response to toxic substance	NAS	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0015643	toxic substance binding	IDA	molecular function
GO:0016311	dephosphorylation	IDA	biological process
GO:0016791	phosphatase activity	IDA	molecular function
GO:0016791	phosphatase activity	IDA	molecular function
GO:0017144	drug metabolic process	NAS	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0042577	lipid phosphatase activity	IDA	molecular function
GO:0042632	cholesterol homeostasis	IDA	biological process
GO:0042803	protein homodimerization activity	NAS	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0045909	positive regulation of vasodilation	NAS	biological process
GO:0046272	stilbene catabolic process	IDA	biological process
GO:0046839	phospholipid dephosphorylation	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072593	reactive oxygen species metabolic process	NAS	biological process
GO:0090181	regulation of cholesterol metabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04146	Peroxisome

Diseases

Associated diseases	References
Cancer (colorectal)	GAD: 18510611
Cancer (head and neck)	GAD: 20819778
Cancer (leukemia)	GAD: 19074885
Cancer (lung)	GAD: 18676680
Cancer (lymphoma)	GAD: 18636124
Cancer	GAD: 19692168
Cancer (bladder)	GAD: 18632753
Apoplexy	GAD: 18216721
Cardiovascular disease	GAD: 14732757
Coronary heart disease	GAD: 16115816
Atherosclerosis	GAD: 14732757
Brain ischemia	GAD: 19940276
Asthma	GAD: 10830912
Diabetes	GAD: 15845398
Hypercholesterolemia	GAD: 132811
Stroke	GAD: 16115816
Parkinson disease	GAD: 11692079
Kidney diseases	GAD: 19578796
Asthenozoospermia	MIK: 22986331
Male factor infertility	MIK: 22986331
Oligozoospermia	MIK: 22986331
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Connective tissue diseases	GAD: 19527514
Calcinosis	GAD: 18537101
Oligozoospermia	MIK: 22986331
Asthenospermia	MIK: 22986331
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22986331	Oligozoospermia, Asthenospermia	rs1042064	Han-Chi nese	1140 (468 fertile controls, 672 idiopathic male infertile)	Male infertility	EPHX1 EPHX2
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)