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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CYP2D7
cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene)
Chromosome 22 · 22q13.2
NCBI Gene: 1564HGNC: HGNC:2624UniProt: A0A087X1C5
20PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
aromatase activityxenobiotic metabolic processxenobiotic catabolic processmitochondrion
✦AI Summary

CYP2D7 is a cytochrome P450 pseudogene located on chromosome 22 that is highly homologous to the functional pharmacogene CYP2D6 1. However, CYP2D7 harbors a premature stop codon that prevents functional protein expression in most individuals 2. Despite early reports suggesting CYP2D7 might metabolize codeine to morphine 3, functional studies have conclusively demonstrated that CYP2D7 produces neither catalytic activity toward CYP2D6 substrates (bufuralol, dextromethorphan) nor morphine from codeine 42. When expressed, CYP2D7 protein localizes to mitochondrial rather than microsomal fractions, further supporting its non-functional status 4. The clinical significance of CYP2D7 lies primarily in its structural homology to CYP2D6; CYP2D7::CYP2D6 and CYP2D6::CYP2D7 gene conversions occur in ~2-8% of populations and can generate hybrid genes affecting CYP2D6 genotyping accuracy 56. Additionally, CYP2D7 polymorphisms (rs1800754, rs2743461) have been associated with increased coronary heart disease risk in Han Chinese populations 7. Accurate detection of CYP2D7 structural variations is essential for correct CYP2D6 phenotype classification and appropriate drug dosing recommendations 5.

Sources cited
1
CYP2D6 is a critical pharmacogene metabolizing ~20% of drugs; CYP2D7 is a non-functional pseudogene involved in structural variants affecting CYP2D6
PMID: 33143137
2
CYP2D7 splice variants do not encode functional protein; no evidence for functional CYP2D7 transcripts in multiple ethnic groups
PMID: 16169517
3
CYP2D7 variants show neither significant protein expression nor catalytic activity toward CYP2D6 substrates
PMID: 30040020
4
CYP2D7 protein localizes to mitochondria and did not produce morphine from codeine, unlike functional CYP2D6 variants
PMID: 18838503
5
CYP2D7::CYP2D6 conversions occur in ~2.44% of samples and CYP2D6::CYP2D7 conversions in ~5.84%, affecting phenotype classification
PMID: 38372405
6
CYP2D6/CYP2D7 hybrid genes are complex structural variants occurring at different frequencies across populations
PMID: 37426826
7
CYP2D7 polymorphisms rs1800754 and rs2743461 are associated with increased coronary heart disease risk
PMID: 39060884
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EPHX1Shared pathway67%CYP2B6Shared pathway40%TPMTShared pathway40%CYP2A6Shared pathway33%CYP4Z1Shared pathway33%FAAH2Shared pathway33%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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CYP2D7EPHX1CYP2B6TPMTCYP2A6CYP4Z1FAAH2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A0A087X1C5
View on AlphaFold ↗
RankingsWhere CYP2D7 stands among ~20K protein-coding genes
  • #14,142of 20,598
    Most Researched20
Genes detectedCYP2D7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A Review of the Important Role of
PMID: 33143137
Genes (Basel) · 2020
1.00
2
Trends in Tramadol: Pharmacology, Metabolism, and Misuse.
PMID: 27861439
Anesth Analg · 2017
0.90
3
CYP2D7 splice variants in human liver and brain: does CYP2D7 encode functional protein?
PMID: 16169517
Biochem Biophys Res Commun · 2005
0.80
4
Association Between CYP2D7 and TCF20 Polymorphisms and Coronary Heart Disease.
PMID: 39060884
Cardiovasc Toxicol · 2024
0.70
5
Functional characterization of CYP2D7 gene variants.
PMID: 30040020
Pharmacogenomics · 2018
0.60