CYP2J2

cytochrome P450 family 2 subfamily J member 2, the group of Cytochrome P450 family 2

Basic information

Region (hg38): 1:59893307-59926773

Links

ENSG00000134716 ∙ NCBI:1573 ∙ OMIM:601258 ∙ HGNC:2634 ∙ Uniprot:P51589 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CYP2J2 gene.

• Inborn genetic diseases (14 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP2J2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			14	1		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	2	2

Variants in CYP2J2

This is a list of pathogenic ClinVar variants found in the CYP2J2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-59893656-C-T		not specified	Uncertain significance (Dec 13, 2023)
1-59893663-A-T			Benign (Feb 26, 2018)
1-59893677-G-A		not specified	Uncertain significance (Jun 22, 2023)
1-59893809-C-T		not specified	Uncertain significance (Dec 08, 2022)
1-59893817-C-T		not specified	Uncertain significance (Feb 28, 2024)
1-59901078-G-A		not specified	Uncertain significance (Jan 08, 2024)
1-59904938-A-T		not specified	Uncertain significance (Aug 17, 2022)
1-59904962-T-C		not specified	Uncertain significance (Sep 25, 2023)
1-59904969-C-T		not specified	Uncertain significance (May 15, 2023)
1-59904999-C-T			Likely benign (Mar 01, 2023)
1-59907851-G-A		not specified	Uncertain significance (Feb 10, 2022)
1-59907879-T-G		not specified	Uncertain significance (Aug 15, 2023)
1-59907906-T-C		not specified	Uncertain significance (Apr 25, 2022)
1-59909808-A-C		not specified	Uncertain significance (Feb 14, 2024)
1-59909812-A-G		not specified	Uncertain significance (Feb 12, 2024)
1-59909816-A-C		not specified	Uncertain significance (Oct 03, 2022)
1-59909895-G-T		not specified	Uncertain significance (Oct 03, 2022)
1-59911633-T-C		not specified	Uncertain significance (Aug 04, 2023)
1-59911700-C-T		not specified	Uncertain significance (Feb 06, 2024)
1-59912168-C-T		not specified	Uncertain significance (Feb 05, 2024)
1-59912288-C-T		not specified	Uncertain significance (Apr 25, 2022)
1-59915970-G-T		not specified	Uncertain significance (Dec 20, 2021)
1-59915975-G-A			Likely benign (Sep 01, 2022)
1-59915982-T-A		not specified	Uncertain significance (Jul 08, 2022)
1-59916002-G-A			Benign (Mar 29, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYP2J2	protein_coding	protein_coding	ENST00000371204	9	33483

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.62e-15	0.0134	125549	0	199	125748	0.000792

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.136	270	276	0.977	0.0000141	3315
Missense in Polyphen		74	83.375	0.88756		1012
Synonymous	0.549	98	105	0.932	0.00000548	960
Loss of Function	0.0839	23	23.4	0.981	0.00000116	262

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00179	0.00177
Ashkenazi Jewish	0.00	0.00
East Asian	0.00442	0.00430
Finnish	0.00	0.00
European (Non-Finnish)	0.000532	0.000519
Middle Eastern	0.00442	0.00430
South Asian	0.000267	0.000261
Other	0.000658	0.000652

dbNSFP

Source: dbNSFP

• Function: 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.
• Pathway: Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Arachidonic acid metabolism - Homo sapiens (human);Linoleic acid metabolism - Homo sapiens (human);Ovarian steroidogenesis - Homo sapiens (human);Etodolac Action Pathway;Ketoprofen Action Pathway;Ibuprofen Action Pathway;Rofecoxib Action Pathway;Acetylsalicylic Acid Action Pathway;Diflunisal Action Pathway;Leukotriene C4 Synthesis Deficiency;Acetaminophen Action Pathway;Celecoxib Action Pathway;Sulindac Action Pathway;Diclofenac Action Pathway;Ketorolac Action Pathway;Naproxen Action Pathway;Etoricoxib Action Pathway;Carprofen Action Pathway;Flurbiprofen Action Pathway;Fenoprofen Action Pathway;Antrafenine Action Pathway;Antipyrine Action Pathway;Lumiracoxib Action Pathway;Magnesium salicylate Action Pathway;Trisalicylate-choline Action Pathway;Nepafenac Action Pathway;Phenylbutazone Action Pathway;Lornoxicam Action Pathway;Salsalate Action Pathway;Tenoxicam Action Pathway;Tiaprofenic Acid Action Pathway;Tolmetin Action Pathway;Salicylic Acid Action Pathway;Salicylate-sodium Action Pathway;Oxaprozin Action Pathway;Valdecoxib Action Pathway;Nabumetone Action Pathway;Indomethacin Action Pathway;Meloxicam Action Pathway;Suprofen Action Pathway;Bromfenac Action Pathway;Mefenamic Acid Action Pathway;Arachidonic Acid Metabolism;Piroxicam Action Pathway;Oxidation by Cytochrome P450;Tryptophan metabolism;Arachidonate Epoxygenase - Epoxide Hydrolase;Metapathway biotransformation Phase I and II;Phase I - Functionalization of compounds;eicosanoid metabolism;Metabolism of lipids;Arachidonic acid metabolism;Xenobiotics;Tyrosine metabolism;Fatty acids;Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET);Androgen and estrogen biosynthesis and metabolism;Cytochrome P450 - arranged by substrate type;Leukotriene metabolism;Biological oxidations;Metabolism;Fatty acid metabolism;Linoleate metabolism;C21-steroid hormone biosynthesis and metabolism;Xenobiotics metabolism;Tryptophan degradation;Arachidonic acid metabolism (Consensus)

Recessive Scores

• pRec: 0.233

Intolerance Scores

• loftool: 0.648
• rvis_EVS: -0.67
• rvis_percentile_EVS: 15.86

Haploinsufficiency Scores

• pHI: 0.0500
• hipred: N
• hipred_score: 0.146
• ghis: 0.475

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.406

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cyp2j6

Gene ontology

• Biological process: organic acid metabolic process;icosanoid metabolic process;xenobiotic metabolic process;regulation of heart contraction;epoxygenase P450 pathway;exogenous drug catabolic process;linoleic acid metabolic process;oxidation-reduction process
• Cellular component: cytoplasm;endoplasmic reticulum membrane;organelle membrane;intracellular membrane-bounded organelle;extracellular exosome
• Molecular function: monooxygenase activity;iron ion binding;arachidonic acid epoxygenase activity;steroid hydroxylase activity;arachidonic acid 14,15-epoxygenase activity;arachidonic acid 11,12-epoxygenase activity;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;heme binding;aromatase activity;linoleic acid epoxygenase activity