CYP4A11

Chr 1

cytochrome P450 family 4 subfamily A member 11

Also known as: CP4Y, CYP4A2, CYP4AII, CYPIVA11

NCBI Gene: 1579ENSG00000187048UniProt: Q02928

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 hydroxylates medium-chain fatty acids such as laurate and myristate. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]

101
ClinVar variants
7
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CYP4A11
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 87 VUS of 101 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.64LOEUF
pLI 0.000
Z-score -1.11
OE 1.23 (0.93–1.64)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-1.12Z-score
OE missense 1.18 (1.08–1.29)
346 obs / 292.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.23 (0.93–1.64)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.18 (1.08–1.29)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.97
0≤1.21.6
LoF obs/exp: 33 / 26.8Missense obs/exp: 346 / 292.2Syn Z: 0.30

ClinVar Variant Classifications

101 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic2
VUS87
Likely Benign5
Benign2
5
Pathogenic
2
Likely Pathogenic
87
VUS
5
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
2
0
2
VUS
1
84
2
0
87
Likely Benign
0
4
0
1
5
Benign
0
0
1
1
2
Total188102101

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

View in ClinVar →

Protein Context — Lollipop Plot

CYP4A11 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Association between the CYP4A11 T8590C variant and essential hypertension: new data from Han Chinese and a meta-analysis.
Yan HC et al.·PLoS One
2013Meta-analysis
Association between CYP4A11 and EPHX2 genetic polymorphisms and chronic kidney disease progression in hypertensive patients.
Suárez-Santisteban MA et al.·Nefrologia (Engl Ed)
2024Cohort
20-HETE and blood pressure regulation: clinical implications.
Wu CC et al.·Cardiol Rev
2014Review
Biochemical analysis of recombinant CYP4A11 allelic variant enzymes: W126R, K276T and S353G.
Han S et al.·Drug Metab Pharmacokinet
2016
Interactions Among CYP2C8, EPHX2, and CYP4A11 Variants and CYP Plasma Metabolite Levels in Ischemic Stroke.
Yi X et al.·J Atheroscler Thromb
2016
Effects of genetic polymorphisms of CYP2J2, CYP2C9, CYP2C19, CYP4F2, CYP4F3 and CYP4A11 enzymes in preeclampsia and gestational hypertension.
Ongun MC et al.·Placenta
2023
Association of a CYP4A11 variant and blood pressure in black men.
Gainer JV et al.·J Am Soc Nephrol
2008
A polymorphism regulates CYP4A11 transcriptional activity and is associated with hypertension in a Japanese population.
Sugimoto K et al.·Hypertension
2008
Genetic variation in CYP4A11 and blood pressure response to mineralocorticoid receptor antagonism or ENaC inhibition: an exploratory pilot study in African Americans.
Laffer CL et al.·J Am Soc Hypertens
2014
CYP4A11 variant is associated with high-density lipoprotein cholesterol in women.
White CC et al.·Pharmacogenomics J
2013
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Dual-specificity phosphatase 6 interferes with the repressive activity of forkhead box O1 towards CYP4A11 that mediates lipid accumulation in the liver.
Kimura M et al.·Sci Rep
2026🔓 Open Access
The Synergistic and Opposing Roles of ω-Fatty Acid Hydroxylase (CYP4A11) and ω-1 Fatty Acid Hydroxylase (CYP2E1) in Chronic Liver Disease.
Hardwick JP et al.·Genome Biol Mol Genet
2024🔓 Open Access
Immunohistochemical expression of cytochrome P4A11 (CYP4A11), carbonic anhydrase 9 (CAIX) and Ki67 in renal cell carcinoma; diagnostic relevance and relations to clinicopathological parameters.
Elfakharany HK et al.·Pathol Res Pract
2024
Introduction of a carboxylic acid group into pyrazolylpyridine derivatives increased selectivity for inhibition of the 20-HETE synthase CYP4A11/4F2.
Kawamura M et al.·Bioorg Med Chem
2023
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools