CYP1A2

Chr 15

cytochrome P450 family 1 subfamily A member 2

Also known as: CP12, CYPIA2, P3-450, P450(PA)

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. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…
0
Active trials
437
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.34
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — CYP1A2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.34LOEUF
pLI 0.000
Z-score 0.46
OE 0.88 (0.60–1.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.42Z-score
OE missense 1.07 (0.97–1.17)
338 obs / 317.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.88 (0.60–1.34)
0≤0.351.4
Missense OE?1.07 (0.97–1.17)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 16 / 18.1Missense obs/exp: 338 / 317.1Syn Z: -0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CYP1A2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →