| Name | cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6 |
| Symbol | CYP2D6 |
| Aliases | CPD6; CYP2D; CYP2D@; P450C2D; P450-DB1; microsomal monooxygenase; xenobiotic monooxygenase; debrisoquine 4-hydroxylase; flavoprotein-linked monooxygenase |
| Gene Product | - cytochrome P450, subfamily IID, polypeptide 6
|
| Category | - Mutation in Prostate cancer
|
| UniGene | Hs.333497 |
| OMIM | 124030 |
| Locus | 1565 |
| Summary | 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 20% of commonly prescribed drugs. Its substrates include debrisoquine, an adrenergic-blocking drug; sparteine and propafenone, both anti-arrythmic drugs; and amitryptiline, an anti-depressant. The gene is highly polymorphic in the population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. The gene is located near two cytochrome P450 pseudogenes on chromosome 22q13.1. |
| Gene Ontology | |
| Expression | | EST (44 ESTs, 12 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (1/204) |  | 1/362011 |
| colon (1/853) | | 1/165626 |
| embryo (1/19) | | 1/37976 |
| eye (1/33) | | 2/93836 |
| germ cell (1/7) | | 1/57383 |
| liver (2/38) | | 7/46472 |
| prostate (1/291) |  | 3/109871 |
| skin (1/31) | | 1/100815 |
| uncharacterized tissue (3/1773) | | 27/713325 |
|
| SAGE (1845611 tags, 36 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (4/19) | | 5/299252 |
| colon (5/8) | | 12/342592 |
| eye (1/6) | | 1/53666 |
| kidney (1/2) | | 2/41857 |
| liver (1/1) | | 5/133722 |
| mammary gland (1/19) | | 1/63227 |
| ovary (2/10) | | 3/128677 |
| pancreas (2/8) | | 2/73712 |
| prostate (3/13) | | 4/256738 |
| stomach (1/3) | | 1/66032 |
| uncharacterized tissue (9/22) | | 10/386136 |
|
|
| SNP | rs2856955 (A/C:mrna-utr); rs2743454 (G/A:locus-region); rs1800716 (T/C:coding-nonsyn); rs1467871 (A/G:locus-region); rs1058174 (C/T:mrna-utr); rs1058164 (T/C:coding-nonsyn); rs915947 (C/T:intron); rs3021076 (C/G:coding-nonsyn); rs762554 (G/T:intron); rs2103555 (G/C:coding-nonsyn); rs2070906 (G/A:coding-nonsyn); rs1966154 (A/C:mrna-utr); rs2267444 (A/G:coding-nonsyn); rs3020730 (C/A:intron); rs1974456 (A/G:coding-nonsyn); rs2899353 (A/C:intron); rs2982052 (G/C:locus-region); rs2092118 (A/G:mrna-utr); rs3045543 (TC/-:intron); rs769256 (T/G:mrna-utr); rs2004511 (C/T:intron); rs2854740 (C/G:intron); rs2860372 (C/T:intron); rs2272812 (G/T:intron); rs2413675 (C/T:mrna-utr); |
| Evidence | Mutation in Prostate cancer
|
