GeneBe

CYP3A5

cytochrome P450 family 3 subfamily A member 5, the group of Cytochrome P450 family 3

Basic information

Region (hg38): 7:99648194-99679996

Links

ENSG00000106258 ∙ NCBI:1577 ∙ OMIM:605325 ∙ HGNC:2638 ∙ Uniprot:P20815 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Drug metabolism, CYP3A5-relatedADPharmacogenomicSelection and dosing of many medications may be affected by the presence of variantsGeneral11740341; 15284534; 12065767; 20212519; 21412232; 22015057; 22210422; 22304537; 22407409; 22706623; 22875663; 23033116

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CYP3A5 gene.

  • not_specified (31 variants)
  • CYP3A5-related_disorder (10 variants)
  • not_provided (4 variants)
  • Essential_hypertension (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP3A5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000777.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
3
clinvar
 3
missense
30
clinvar
4
clinvar
 34
nonsense
0
start loss
0
frameshift
3
clinvar
 3
splice donor/acceptor (+/-2bp)
0
Total 0 0 30 10 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CYP3A5protein_codingprotein_codingENST00000222982 1331805
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
6.29e-170.007341220119336441257480.0150
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.172162700.8000.00001363285
Missense in Polyphen5569.3390.7932912
Synonymous0.629921000.9200.00000524965
Loss of Function0.03302525.20.9930.00000121322

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.1130.113
Ashkenazi Jewish0.007450.00747
East Asian0.007890.00791
Finnish0.003930.00393
European (Non-Finnish)0.01090.0109
Middle Eastern0.007890.00791
South Asian0.006790.00669
Other0.01110.0108

dbNSFP

Source: dbNSFP

Function
FUNCTION: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.;
Pathway
Artemisinin and Derivatives Pathway, Pharmacokinetics;Benzodiazepine Pathway, Pharmacokinetics;Retinol metabolism - Homo sapiens (human);Steroid hormone biosynthesis - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Carbamazepine Pathway, Pharmacokinetics;Imatinib Pathway, Pharmacokinetics/Pharmacodynamics;Statin Pathway - Generalized, Pharmacokinetics;Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics;Fluvastatin Pathway, Pharmacokinetics;Phenytoin Pathway, Pharmacokinetics;Tamoxifen Pathway, Pharmacokinetics;Vinka Alkaloid Pathway, Pharmacokinetics;Gefitinib Pathway, Pharmacokinetics;Clopidogrel Pathway, Pharmacokinetics;Taxane Pathway, Pharmacokinetics;Erlotinib Pathway, Pharmacokinetics;Fluoxetine Pathway, Pharmacokinetics;Nevirapine Pathway, Pharmacokinetics;Mycophenolic acid Pathway, Pharmacokinetics;Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics;Tacrolimus/Cyclosporine Pathway, Pharmacokinetics;Irinotecan Pathway, Pharmacokinetics;Etoposide Pathway, Pharmacokinetics/Pharmacodynamics;Cyclophosphamide Pathway, Pharmacokinetics;Ifosfamide Pathway, Pharmacokinetics;Artemether Metabolism Pathway;Mycophenolic Acid Metabolism Pathway;Fluoxetine Action Pathway;Clopidogrel Metabolism Pathway;Clopidogrel Action Pathway;Irinotecan Action Pathway;Tamoxifen Action Pathway;Carbamazepine Metabolism Pathway;Etoposide Action Pathway;Teniposide Action Pathway;Ifosfamide Action Pathway;Vitamin A Deficiency;Fluoxetine Metabolism Pathway;Nevirapine Metabolism Pathway;Teniposide Metabolism Pathway;Irinotecan Metabolism Pathway;Etoposide Metabolism Pathway;Tamoxifen Metabolism Pathway;Ifosfamide Metabolism Pathway;Retinol Metabolism;Irinotecan Pathway;Constitutive Androstane Receptor Pathway;Pregnane X Receptor pathway;Vitamin D Receptor Pathway;Nuclear Receptors Meta-Pathway;Liver steatosis AOP;Oxidation by Cytochrome P450;Tamoxifen metabolism;Metapathway biotransformation Phase I and II;Phase I - Functionalization of compounds;Xenobiotics;Tyrosine metabolism;Androgen and estrogen biosynthesis and metabolism;Cytochrome P450 - arranged by substrate type;Leukotriene metabolism;Biological oxidations;Metabolism;Linoleate metabolism;C21-steroid hormone biosynthesis and metabolism;Xenobiotics metabolism;Tryptophan degradation;Aflatoxin activation and detoxification;Arachidonic acid metabolism (Consensus)

Intolerance Scores

loftool
0.909
rvis_EVS
-0.18
rvis_percentile_EVS
40.36

Haploinsufficiency Scores

pHI
0.0379
hipred
N
hipred_score
0.112
ghis
0.457

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.330

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Cyp3a44
Phenotype

Gene ontology

Biological process
lipid hydroxylation;xenobiotic metabolic process;steroid metabolic process;alkaloid catabolic process;drug catabolic process;oxidative demethylation
Cellular component
endoplasmic reticulum membrane;organelle membrane;intracellular membrane-bounded organelle
Molecular function
monooxygenase activity;iron ion binding;oxidoreductase activity;oxygen binding;heme binding;aromatase activity;estrogen 16-alpha-hydroxylase activity