CYP2J2

Chr 1

cytochrome P450 family 2 subfamily J member 2

Also known as: CPJ2, CYPIIJ2

NCBI Gene: 1573 ENSG00000134716 UniProt: P51589 OMIM: 601258

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.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 1.39

Clinical Summary— CYP2J2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.39LOEUF

pLI 0.000

Z-score 0.08

OE 0.98 (0.70–1.39)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.14Z-score

OE missense 0.98 (0.88–1.08)

270 obs / 276.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.98 (0.70–1.39)

0≤0.351.4

Missense OE?0.98 (0.88–1.08)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 23 / 23.4Missense obs/exp: 270 / 276.4Syn Z: 0.55

This gene — mechanism propensity

0.6840th %ile

GOF

0.5465th %ile

LOF

0.3549th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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.