CYP2J2
Chr 1cytochrome P450 family 2 subfamily J member 2
Also known as: CPJ2, CYPIIJ2
This gene encodes a cytochrome P450 monooxygenase that catalyzes the epoxidation of arachidonic acid and other polyunsaturated fatty acids in cardiac tissue, producing epoxyeicosatrienoic acids that have cardiovascular effects. The gene shows low constraint against loss-of-function variants (LOEUF 1.39), and no established Mendelian diseases have been definitively linked to CYP2J2 mutations in the pediatric population. While variants in this gene have been studied in relation to cardiovascular phenotypes, clear disease associations with defined inheritance patterns remain to be established.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CYP2J2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools