Human Gene CYP2J2 (uc001czq.3)
  Description: Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.
RefSeq Summary (NM_000775): This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016].
Transcript (Including UTRs)
   Position: hg19 chr1:60,358,980-60,392,423 Size: 33,444 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr1:60,359,323-60,392,418 Size: 33,096 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:60,358,980-60,392,423)mRNA (may differ from genome)Protein (502 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CP2J2_HUMAN
DESCRIPTION: RecName: Full=Cytochrome P450 2J2; EC=1.14.14.1; AltName: Full=Arachidonic acid epoxygenase; AltName: Full=CYPIIJ2;
FUNCTION: This enzyme metabolizes arachidonic acid predominantly via a NADPH-dependent olefin epoxidation to all four regioisomeric cis-epoxyeicosatrienoic acids. One of the predominant enzymes responsible for the epoxidation of endogenous cardiac arachidonic acid pools.
CATALYTIC ACTIVITY: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O.
COFACTOR: Heme group (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
TISSUE SPECIFICITY: Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney.
SIMILARITY: Belongs to the cytochrome P450 family.
WEB RESOURCE: Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP2J2 alleles; URL="http://www.cypalleles.ki.se/cyp2j2.htm";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp2j2/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CYP2J2
CDC HuGE Published Literature: CYP2J2
Positive Disease Associations: asthma , atherosclerosis, coronary , Factor VII , hypertension , Lipids , Lipoproteins , myocardial infarct
Related Studies:
  1. asthma
    Polonikov, A. V. et al. 2007, PROMOTER POLYMORPHISM G-50T OF A HUMAN CYP2J2 EPOXYGENASE GENE IS ASSOCIATED WITH COMMON SUSCEPTIBILITY TO ASTHMA, Chest 2007. [PubMed 17475630]
    Our data demonstrate for the first time that the CYP2J2 gene might be considered as a novel candidate gene for common susceptibility to asthma and highlight the importance of the P-450 epoxygenase pathway of metabolism of arachidonic acid in the pathogenesis of the disease.
  2. atherosclerosis, coronary
    Spiecker, M. et al. 2004, Risk of Coronary Artery Disease Associated With Polymorphism of the Cytochrome P450 Epoxygenase CYP2J2, Circulation. 2004 Oct;110(15):2132-6. [PubMed 15466638]
    A functionally relevant polymorphism of the CYP2J2 gene is independently associated with an increased risk of coronary artery disease.
  3. Factor VII
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CYP2J2
Diseases sorted by gene-association score: clopidogrel resistance (7)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.94 RPKM in Heart - Atrial Appendage
Total median expression: 236.37 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
3' UTR -74.80343-0.218 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
IPR001128 - Cyt_P450
IPR017972 - Cyt_P450_CS
IPR002401 - Cyt_P450_E_grp-I
IPR008071 - Cyt_P450_E_grp-I_CYP2J-like

Pfam Domains:
PF00067 - Cytochrome P450

SCOP Domains:
48264 - Cytochrome P450

ModBase Predicted Comparative 3D Structure on P51589
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004497 monooxygenase activity
GO:0005506 iron ion binding
GO:0008392 arachidonic acid epoxygenase activity
GO:0008404 arachidonic acid 14,15-epoxygenase activity
GO:0008405 arachidonic acid 11,12-epoxygenase activity
GO:0016491 oxidoreductase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
GO:0020037 heme binding
GO:0046872 metal ion binding
GO:0070330 aromatase activity
GO:0071614 linoleic acid epoxygenase activity

Biological Process:
GO:0006690 icosanoid metabolic process
GO:0006805 xenobiotic metabolic process
GO:0008016 regulation of heart contraction
GO:0019373 epoxygenase P450 pathway
GO:0043651 linoleic acid metabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0031090 organelle membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  U37143 - Homo sapiens cytochrome P450 monooxygenase CYP2J2 mRNA, complete cds.
BC032594 - Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2, mRNA (cDNA clone MGC:44831 IMAGE:5527808), complete cds.
AB080265 - Homo sapiens CYP2J2 mRNA for cytochrome P450 2J2, complete cds.
AK055088 - Homo sapiens cDNA FLJ30526 fis, clone BRAWH2000984, highly similar to CYTOCHROME P450 2J2 (EC 1.14.14.1).
JD404239 - Sequence 385263 from Patent EP1572962.
JD316016 - Sequence 297040 from Patent EP1572962.
JD549975 - Sequence 530999 from Patent EP1572962.
JD328869 - Sequence 309893 from Patent EP1572962.
JD434653 - Sequence 415677 from Patent EP1572962.
KJ891016 - Synthetic construct Homo sapiens clone ccsbBroadEn_00410 CYP2J2 gene, encodes complete protein.
KR710888 - Synthetic construct Homo sapiens clone CCSBHm_00017778 CYP2J2 (CYP2J2) mRNA, encodes complete protein.
KR710889 - Synthetic construct Homo sapiens clone CCSBHm_00017779 CYP2J2 (CYP2J2) mRNA, encodes complete protein.
KR710890 - Synthetic construct Homo sapiens clone CCSBHm_00017780 CYP2J2 (CYP2J2) mRNA, encodes complete protein.
AK315387 - Homo sapiens cDNA, FLJ96434, highly similar to Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.
DQ890862 - Synthetic construct clone IMAGE:100003492; FLH166584.01X; RZPDo839A0988D cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2) gene, encodes complete protein.
DQ894017 - Synthetic construct Homo sapiens clone IMAGE:100008477; FLH166580.01L; RZPDo839A0987D cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2) gene, encodes complete protein.
AB528452 - Synthetic construct DNA, clone: pF1KB5232, Homo sapiens CYP2J2 gene for cytochrome P450, family 2, subfamily J, polypeptide 2, without stop codon, in Flexi system.
AF144566 - Homo sapiens cytochrome P450 epoxygenase (CYP2J2) mRNA, partial cds.
CU689440 - Synthetic construct Homo sapiens gateway clone IMAGE:100020708 5' read CYP2J2 mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00590 - Arachidonic acid metabolism
hsa00591 - Linoleic acid metabolism
hsa01100 - Metabolic pathways

BioCarta from NCI Cancer Genome Anatomy Project
h_eicosanoidPathway - Eicosanoid Metabolism

Reactome (by CSHL, EBI, and GO)

Protein P51589 (Reactome details) participates in the following event(s):

R-HSA-2161890 Arachidonic acid is epoxidated to 5,6-EET by CYP(4)
R-HSA-2161899 Arachidonic acid is epoxidated to 8,9/11,12/14,15-EET by CYP(5)
R-HSA-211983 CYP2J2 oxidises ARA
R-HSA-76456 O-atom dealkylation of dextromethorphan
R-HSA-211966 CYP2D6 4-hydroxylates debrisoquine
R-HSA-211991 Cyclophosphamide is 4-hydroxylated by CYP2B6
R-HSA-212005 CYP2F1 dehydrogenates 3-methylindole
R-HSA-211881 Coumarin is 7-hydroxylated by CYP2A13
R-HSA-2142670 Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
R-HSA-211935 Fatty acids
R-HSA-211981 Xenobiotics
R-HSA-2142753 Arachidonic acid metabolism
R-HSA-211897 Cytochrome P450 - arranged by substrate type
R-HSA-8978868 Fatty acid metabolism
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-556833 Metabolism of lipids
R-HSA-211859 Biological oxidations
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: CP2J2_HUMAN, NM_000775, NP_000766, P51589
UCSC ID: uc001czq.3
RefSeq Accession: NM_000775
Protein: P51589 (aka CP2J2_HUMAN or CPJ2_HUMAN)
CCDS: CCDS613.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000775.2
exon count: 9CDS single in 3' UTR: no RNA size: 1876
ORF size: 1509CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3218.00frame shift in genome: no % Coverage: 98.99
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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