CYP2J2

Cytochrome P450 Family 2 Subfamily J Member 2

Gene Information Card

Symbol CYP2J2
Full Name Cytochrome P450 Family 2 Subfamily J Member 2
Gene Type Protein coding
Chromosomal Location 1p31.3-p31.2
NCBI Gene ID 1573 ncbi.nlm.nih.gov/gene/1573
Ensembl ID ENSG00000134716
UniProt ID P51589
OMIM ID 601258
HGNC ID 2634
Aliases CPJ2, CYPIIJ2

Description

CYP2J2 encodes a member of the cytochrome P450 superfamily of enzymes, which are heme-thiolate monooxygenases involved in the metabolism of various endogenous and exogenous compounds. CYP2J2 is primarily expressed in the heart and vascular endothelium and is a major enzyme for the epoxidation of arachidonic acid to biologically active epoxyeicosatrienoic acids (EETs), which have vasodilatory, anti-inflammatory, and cardioprotective effects. The gene is also implicated in drug metabolism and cancer biology.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cardiovascular disease CYP2J2-derived EETs regulate vascular tone and inflammation; reduced activity may contribute to hypertension and atherosclerosis. PMID: 15689448, ClinVar
Cancer (various types) CYP2J2 is overexpressed in several cancers and promotes tumor growth and angiogenesis via EET signaling. PMID: 21750195, COSMIC
Coronary artery disease Polymorphisms in CYP2J2 are associated with altered EET levels and risk of CAD. PMID: 17261634, OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Heart 27.8 High
Liver 5.2 Low
Kidney 4.1 Low
Lung 3.9 Low
Vascular endothelium N/A High (protein level)
Cell Line Expression
Cell Line nTPM Notes
HUVEC N/A High expression of CYP2J2 mRNA and protein
HepG2 N/A Moderate expression
A549 N/A Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
rs890293 (CYP2J2*7) Promoter variant ~5-10% in some populations Reduced promoter activity and lower EET levels, associated with increased cardiovascular risk
rs11572325 Missense (Ile192Val) Rare Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

rs890293 (CYP2J2*7) reduces transcriptional activity, leading to decreased CYP2J2 expression and lower EET production.

Gain of Function (GOF)

No well-characterized gain-of-function mutations reported.

Dominant Negative (DN)

Not described for CYP2J2.

Gene Ontology (GO)

• arachidonic acid epoxygenase activity • heme binding
• iron ion binding • oxidoreductase activity
• acting on paired donors • with incorporation or reduction of molecular oxygen
• monooxygenase activity

Pathways

Arachidonic acid metabolism
Epoxidation of arachidonic acid to EETs
Biological oxidations

Protein Summary

CYP2J2 is a 502-amino acid microsomal cytochrome P450 monooxygenase localized to the endoplasmic reticulum. It catalyzes the NADPH-dependent epoxidation of arachidonic acid to four regioisomeric EETs (5,6-, 8,9-, 11,12-, and 14,15-EET). These EETs act as autocrine and paracrine signaling molecules that promote vasodilation, inhibit platelet aggregation, and reduce inflammation. CYP2J2 also metabolizes several drugs, including ebastine and terfenadine. The protein is highly expressed in the heart and vascular endothelium, with lower levels in liver, kidney, and lung.

Related Products

Product name Cat.No. Species Gene ID
CYP2J2 Knockout HEK293 Cell Line EDJ-KQ4405 Human 1573 Details Get a Quote
CYP2J2 Knockout HCT 116 Cell Line EDJ-KQ26930 Human 1573 Details Get a Quote
CYP2J2 Knockout HeLa Cell Line EDJ-KQ53052 Human 1573 Details Get a Quote
CYP2J2 Knockout A-549 Cell Line EDJ-KQ61517 Human 1573 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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