Gene Gene information from NCBI Gene database.
Entrez ID 1576
Gene name Cytochrome P450 family 3 subfamily A member 4
Gene symbol CYP3A4
Synonyms (NCBI Gene)
CP33CP34CYP3ACYP3A3CYPIIIA3CYPIIIA4HLPNF-25P450C3P450PCN1VDDR3
Chromosome 7
Chromosome location 7q22.1
Summary 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 locali
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs2740574 C>A,G,T Drug-response, benign Upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
111
miRTarBase ID miRNA Experiments Reference
MIRT006510 hsa-miR-27b-3p ImmunoblotLuciferase reporter assay 19581388
MIRT006510 hsa-miR-27b-3p ImmunoblotLuciferase reporter assay 19581388
MIRT921473 hsa-miR-1 CLIP-seq
MIRT921474 hsa-miR-106a CLIP-seq
MIRT921475 hsa-miR-106b CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
16
Transcription factor Regulation Reference
CEBPA Unknown 15100175
DBP Activation 18004209
FOXA3 Unknown 19706729
FOXM1 Unknown 15100175
HDAC1 Unknown 21996064
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
80
GO ID Ontology Definition Evidence Reference
GO:0002933 Process Lipid hydroxylation IDA 14559847
GO:0002933 Process Lipid hydroxylation IEA
GO:0004497 Function Monooxygenase activity IDA 15327587
GO:0004497 Function Monooxygenase activity IEA
GO:0004497 Function Monooxygenase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
124010 2637 ENSG00000160868
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08684
Protein name Cytochrome P450 3A4 (EC 1.14.14.1) (1,4-cineole 2-exo-monooxygenase) (1,8-cineole 2-exo-monooxygenase) (EC 1.14.14.56) (Albendazole monooxygenase (sulfoxide-forming)) (EC 1.14.14.73) (Albendazole sulfoxidase) (CYPIIIA3) (CYPIIIA4) (Cholesterol 25-hydroxyl
Protein function A cytochrome P450 monooxygenase involved in the metabolism of sterols, steroid hormones, retinoids and fatty acids (PubMed:10681376, PubMed:11093772, PubMed:11555828, PubMed:12865317, PubMed:14559847, PubMed:15373842, PubMed:15764715, PubMed:199
PDB 1TQN , 1W0E , 1W0F , 1W0G , 2J0D , 2V0M , 3NXU , 3TJS , 3UA1 , 4D6Z , 4D75 , 4D78 , 4D7D , 4I3Q , 4I4G , 4I4H , 4K9T , 4K9U , 4K9V , 4K9W , 4K9X , 4NY4 , 5A1P , 5A1R , 5G5J , 5TE8 , 5VC0 , 5VCC , 5VCD , 5VCE , 5VCG , 6BCZ , 6BD5 , 6BD6 , 6BD7 , 6BD8 , 6BDH , 6BDI , 6BDK , 6BDM , 6OO9 , 6OOA , 6OOB , 7KS8 , 7KSA , 7KVH , 7KVI , 7KVJ , 7KVK , 7KVM , 7KVN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 38 493 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:18545703, PubMed:19359404). Also ex
Sequence
Sequence length 503
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid hormone biosynthesis
Linoleic acid metabolism
Retinol metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Drug metabolism - other enzymes
Metabolic pathways
Bile secretion
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - receptor activation
  Xenobiotics
Aflatoxin activation and detoxification
Biosynthesis of maresin-like SPMs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Vitamin D-dependent rickets, type 3 Pathogenic rs1815413655 RCV001261942
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CYP3A4 PROMOTER POLYMORPHISM Benign rs2740574 RCV000018417
CYP3A4-related disorder Likely benign rs113667357 RCV003962239
fentanyl response - Dosage drug response rs2242480 RCV003228705
tacrolimus response - Metabolism/PK drug response rs4646437, rs2242480 RCV001787698
RCV003228706
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Associate 34606062
Acne Vulgaris Associate 37864393
Acute Coronary Syndrome Associate 28179614
Acute Kidney Injury Associate 15625333
Adenocarcinoma of Lung Associate 28381170, 37686184
Adenoma Inhibit 16281975
Alcoholism Associate 38117809
Anemia Associate 25881102
Antley Bixler Syndrome Phenotype Associate 20844025, 22252407
Asthma Associate 23290512