LongevityMap Gene
Gene details
- HGNC symbol
- CYP2D6
- Aliases
- CPD6; CYP2D; CYP2DL1; CYPIID6; P450C2D; P450DB1; CYP2D7AP; CYP2D7BP; CYP2D7P2; CYP2D8P2; P450-DB1
- Common name
- cytochrome P450 family 2 subfamily D member 6
- Description
- This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
- Cytogenetic Location
- 22q13.2
- UCSC Genome Browser
- View 22q13.2 on the UCSC genome browser
- OMIM
- 124030
- Ensembl
- ENSG00000100197
- UniProt/Swiss-Prot
- C1ID52_HUMAN
- Entrez Gene
- 1565
- UniGene
- 648256
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Drosophila melanogaster
- Cyp18a1
- Mus musculus
- Cyp2d26
- Mus musculus
- Cyp2d34
- Mus musculus
- Cyp2d12
- Mus musculus
- Cyp2d11
- Mus musculus
- Cyp2d10
- Mus musculus
- Cyp2d40
- Mus musculus
- Cyp2d22
- Mus musculus
- Cyp2d9
- Rattus norvegicus
- Cyp2d5
- Rattus norvegicus
- Cyp2d1
- Rattus norvegicus
- Cyp2d1
- Rattus norvegicus
- Cyp2d4
- Rattus norvegicus
- Cyp2d2
Studies (3)
Significant/Non-significant: 0/3
Study 1
- Longevity Association
- Non-significant
- Population
- Spanish
- Study Design
- The enzymatic polymorphism was examined in 41 nonagenarians (10 males, mean age 92.2 years, range 90-98) free of known malignancies or neurodegenerative diseases and in control groups comprised of 217 healthy volunteers (128 males, mean age 36.3 years)
- Conclusions
- No association with longevity was found
- Indentifier
- CYP2D6
- Reference
Study 2
- Longevity Association
- Non-significant
- Population
- French
- Study Design
- CYP2D63 (A2637 deletion) and CYP2D64 (G1934A transition) alleles were examined in 552 centenarians and 243 controls aged 20-70 years
- Conclusions
- No significant difference was found between centenarian and control subjects
- Indentifier
- A2637
- Reference
Study 3
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
- Conclusions
- After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
- Indentifier
- rs769258
- Reference