CYP2E1

Chr 10

cytochrome P450 family 2 subfamily E member 1

Also known as: CPE1, CYP2E, P450-J, P450C2E

NCBI Gene: 1571ENSG00000130649UniProt: P05181

This gene encodes cytochrome P450 2E1, a monooxygenase that metabolizes fatty acids by hydroxylation at the omega-1 position and also metabolizes various endogenous substrates like ethanol and exogenous compounds including drugs and xenobiotics. The gene is not highly constrained against loss-of-function variants, and while CYP2E1 variants can affect drug metabolism and potentially influence susceptibility to certain toxins, clear Mendelian disease associations with this gene have not been well-established in pediatric populations.

Summary from RefSeq, UniProt
Research Assistant →
1
Active trials
246
Pubs (1 yr)
97
P/LP submissions
0%
P/LP missense
1.17
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— CYP2E1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
97 unique Pathogenic / Likely Pathogenic· 69 VUS of 251 total submissions
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.17LOEUF
pLI 0.000
Z-score 1.00
OE 0.76 (0.51–1.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.88Z-score
OE missense 0.86 (0.77–0.95)
254 obs / 296.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.76 (0.51–1.17)
0≤0.351.4
Missense OE0.86 (0.77–0.95)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 15 / 19.8Missense obs/exp: 254 / 296.5Syn Z: -0.12
DN
0.79top 25%
GOF
0.6737th %ile
LOF
0.2484th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction 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.

ClinVar Variant Classifications

251 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic91
Likely Pathogenic6
VUS69
Likely Benign12
Benign63
91
Pathogenic
6
Likely Pathogenic
69
VUS
12
Likely Benign
63
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
91
0
91
Likely Pathogenic
0
0
6
0
6
VUS
0
47
22
0
69
Likely Benign
0
9
2
1
12
Benign
0
1
57
5
63
Total0571786241

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CYP2E1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Retraction: Stereoisomers of octahydrocurcumin, the hydrogenated metabolites of curcumin, display stereoselective activity on the CYP2E1 enzyme in L-02 cells.
Luo D et al.·Food Funct
2026
Environmental exposure to bisphenol S suppresses white adipocyte beiging and energy expenditure via CYP2E1 in mice.
Liu Q et al.·Environ Pollut
2026
4-Methyl-5-Acetylthiazole (Q11), a novel CYP2E1 inhibitor, has a protective effect on the hepatotoxicity induced by acetaminophen.
Yu GX et al.·Bioorg Chem
2026
Isobavachin Ameliorates Acetaminophen-Induced Liver Injury Through Modulation of CYP2E1-Mediated Bioactivation and NRF2/PI3K/AKT Cytoprotective Pathways.
Ye W et al.·J Biochem Mol Toxicol
2026
Suppression of dual-specificity phosphatase 6 protects against liver fibrosis via targeting CYP2E1-mediated ferroptosis.
Jiang C et al.·Int J Biol Macromol
2026
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients