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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Vitamin D-dependent rickets, type 3 Pathogenic rs1815413655 RCV001261942
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, OVARIAN EPITHELIAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYP3A4 PROMOTER POLYMORPHISM Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYP3A4-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 29075133, 31102151
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 28440407
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12439220, 12846892, 15462611, 17339179, 18385010, 25266680, 25305360
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30898762
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17127240
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 22363234
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28381170
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 12439220, 15462611, 17339179, 18385010, 25266680
★☆☆☆☆
Found in Text Mining only
Amaurosis congenita of Leber, type 1 Leber congenital amaurosis BEFREE 14681232
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 29940068
★☆☆☆☆
Found in Text Mining only