CYP3A4
Chr 7cytochrome P450 family 3 subfamily A member 4
Also known as: CP33, CP34, CYP3A, CYP3A3, CYPIIIA3, CYPIIIA4, HLP, NF-25
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020]
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
58 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 19 | 0 | 20 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 17 | 8 | 0 | 26 |
Likely Benign | 1 | 2 | 2 | 3 | 8 |
Benign | 0 | 0 | 2 | 1 | 3 |
| Total | 2 | 20 | 32 | 4 | 58 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CYP3A4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Study to Evaluate the Safety and Efficacy of Bicalutamide in Combination with Sunitinib in Patients with TKIs-resistant RCC
RECRUITINGPredicting and Preventing Adverse Maternal and Child Outcomes of Opioid Use Disorder in Pregnancy
RECRUITINGTacrolimus Pharmacokinetic Subpopulations
RECRUITINGPharmacokinetic Boosting of Olaparib to Improve Exposure, Tolerance and Cost-effectiveness
RECRUITINGNilotinib Plus Dabrafenib/Trametinib or Encorafenib/Binimetinib in Metastatic Melanoma
RECRUITINGA Study of Revumenib in R/R Leukemias Including Those With an MLL/KMT2A Gene Rearrangement or NPM1 Mutation
RECRUITINGA Study to Learn How Fluconazole, Carbamazepine and Itraconazole Affect How the Body Processes ASP3082 in Healthy Adults
RECRUITINGPrecision Analgesia for Cardiac Surgery
NOT YET RECRUITINGIbrutinib Followed by BR (Bendamustine and Rituximab) as a Time-Limited Therapy for Waldenström Macroglobulinemia
NOT YET RECRUITINGAnticoagulation in ICH Survivors for Stroke Prevention and Recovery
RECRUITINGBiological Collection for the Purpose of Exploring Genetic and Clinical-biological Factors Associated With Variability in Response to Mavacamten in the Treatment of Obstructive Hypertrophic Cardiomyopathy
NOT YET RECRUITINGA Study to Learn About the Study Medicine Called PF-07799933 in People With Advanced Solid Tumors With BRAF Alterations.
RECRUITINGExternal Resources
Links to major genomics databases and tools