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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CYP2D6
cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)
Chromosome 22 · 22q13.2
NCBI Gene: 1565Ensembl: ENSG00000100197.24HGNC: HGNC:2625UniProt: C1ID52
1,089PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
monooxygenase activityestrogen metabolic processcoumarin metabolic processalkaloid metabolic processresponse to tramadoldebrisoquine, poor metabolism ofPrecordial painAbnormality of the skeletal system
✦AI Summary

CYP2D6 is a hepatic cytochrome P450 monooxygenase that catalyzes the oxidative metabolism of approximately 20-25% of commonly used medications, including antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants 1. The enzyme uses molecular oxygen to insert one atom into substrates while reducing the second to water, with electrons provided by NADPH via cytochrome P450 reductase [UniProt sources]. Beyond drug metabolism, CYP2D6 catalyzes epoxidation of polyunsaturated fatty acids [UniProt sources], metabolizes the endocannabinoid anandamide to bioactive epoxyeicosatrienoic acid ethanolamides [UniProt sources], and converts cholesterol to 25-hydroxycholesterol for cellular homeostasis [UniProt sources]. CYP2D6 exhibits pronounced interindividual variability in expression and activity due to genetic polymorphism, with approximately 7% of Caucasians and 1% of Asians classified as poor metabolizers 2. This genetic variation significantly impacts drug pharmacokinetics and therapeutic outcomes 1. Beyond CYP2D6 gene polymorphisms, recent genome-wide association studies identified novel cis- and trans-genetic variants (rs1807493, rs1062753, rs4073010, rs729559) that independently regulate CYP2D6 expression and activity 1. Transcriptional regulation by factors such as small heterodimer partner and Krüppel-like factor 9 further contributes to variability 3. Understanding CYP2D6 genetic and transcriptional regulation is essential for precision medicine and optimizing drug therapy while preventing toxicity 2.

Sources cited
1
CYP2D6 metabolizes 20-25% of commonly used medications and identification of novel cis- and trans-variants regulating CYP2D6 expression and activity
PMID: 38050015
2
CYP2D6 metabolizes antidepressants, antipsychotics, beta-blockers, and antiarrhythmics; poor metabolizer frequencies vary by ethnicity (7% Caucasians, 1% Asians)
PMID: 10886465
3
Transcriptional regulation of CYP2D6 by small heterodimer partner and Krüppel-like factor 9 contributes to interindividual variability
PMID: 27698228
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
response to tramadolOpen Targets
0.55Moderate
debrisoquine, poor metabolism ofOpen Targets
0.49Moderate
Precordial painOpen Targets
0.29Weak
Abnormality of the skeletal systemOpen Targets
0.29Weak
insomniaOpen Targets
0.22Weak
schizophreniaOpen Targets
0.21Weak
intelligenceOpen Targets
0.20Weak
bipolar disorderOpen Targets
0.15Weak
mathematical abilityOpen Targets
0.14Weak
autism spectrum disorderOpen Targets
0.13Weak
reasoningOpen Targets
0.12Weak
attention deficit hyperactivity disorderOpen Targets
0.11Weak
anorexia nervosaOpen Targets
0.11Weak
Tourette syndromeOpen Targets
0.11Weak
major depressive disorderOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
Parkinson diseaseOpen Targets
0.10Weak
obsessive-compulsive disorderOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
systemic lupus erythematosusOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MAOBProtein interaction97%MAOAProtein interaction96%CBR1Protein interaction96%CBR3Protein interaction96%CYP2A13Protein interaction96%UGT2A3Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Ovary
2%
Bone Marrow
1%
Lung
1%
Heart
0%
Brain
0%
Gene Interaction Network
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CYP2D6MAOBMAOACBR1CBR3CYP2A13UGT2A3
PROTEIN STRUCTURE
Preparing viewer…
PDB3TBG · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.36 [1.08–1.71]
RankingsWhere CYP2D6 stands among ~20K protein-coding genes
  • #142of 20,598
    Most Researched1,089 · top 1%
  • #16,130of 17,882
    Most Constrained (LOEUF)1.71
Genes detectedCYP2D6
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Metabolomics reveals biomarkers in human urine and plasma to predict cytochrome P450 2D6 (CYP2D6) activity.
PMID: 34363609
Br J Pharmacol · 2021
1.00
2
Pharmacogenetics and psychopharmacotherapy.
PMID: 10886465
J Clin Pharm Ther · 2000
0.90
3
Polymorphic expression of CYP2C19 and CYP2D6 in the developing and adult human brain causing variability in cognition, risk for depression and suicide: the search for the endogenous substrates.
PMID: 25495406
Pharmacogenomics · 2014
0.88
4
The inhibition of CYP1A2, CYP2C9, and CYP2D6 by pterostilbene in human liver microsomes.
PMID: 33849700
Pharmazie · 2021
0.84
5
Metabolism of sumatriptan revisited.
PMID: 36655303
Pharmacol Res Perspect · 2023
0.80