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P10635

- CP2D6_HUMAN

UniProt

P10635 - CP2D6_HUMAN

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Protein

Cytochrome P450 2D6

Gene
CYP2D6, CYP2DL1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved in the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants.1 Publication

Catalytic activityi

RH + reduced flavoprotein + O2 = ROH + oxidized flavoprotein + H2O.

Cofactori

Heme group.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei301 – 3011Substrate Inferred
Metal bindingi443 – 4431Iron (heme axial ligand)

GO - Molecular functioni

  1. aromatase activity Source: UniProtKB-EC
  2. drug binding Source: BHF-UCL
  3. heme binding Source: UniProtKB
  4. iron ion binding Source: InterPro
  5. monooxygenase activity Source: BHF-UCL
  6. oxidoreductase activity Source: BHF-UCL

GO - Biological processi

  1. alkaloid catabolic process Source: BHF-UCL
  2. alkaloid metabolic process Source: BHF-UCL
  3. coumarin metabolic process Source: BHF-UCL
  4. drug catabolic process Source: BHF-UCL
  5. drug metabolic process Source: BHF-UCL
  6. heterocycle metabolic process Source: BHF-UCL
  7. isoquinoline alkaloid metabolic process Source: BHF-UCL
  8. monoterpenoid metabolic process Source: BHF-UCL
  9. negative regulation of binding Source: BHF-UCL
  10. negative regulation of cellular organofluorine metabolic process Source: BHF-UCL
  11. oxidation-reduction process Source: BHF-UCL
  12. oxidative demethylation Source: BHF-UCL
  13. small molecule metabolic process Source: Reactome
  14. steroid metabolic process Source: BHF-UCL
  15. xenobiotic metabolic process Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_13425. Miscellaneous substrates.
REACT_13543. Xenobiotics.
REACT_13797. CYP2E1 reactions.
REACT_13814. Fatty acids.
SABIO-RKP10635.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome P450 2D6 (EC:1.14.14.1)
Alternative name(s):
CYPIID6
Cytochrome P450-DB1
Debrisoquine 4-hydroxylase
Gene namesi
Name:CYP2D6
Synonyms:CYP2DL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:2625. CYP2D6.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum Source: BHF-UCL
  2. endoplasmic reticulum membrane Source: Reactome
  3. mitochondrion Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

MIMi608902. phenotype.
Orphaneti240847. Amitriptyline toxicity.
240849. Antipsychotics toxicity.
240865. Clomipramine toxicity.
240867. Codeine toxicity.
240883. Imipramine toxicity.
240893. Nortriptyline toxicity.
240931. Resistance to amitriptyline in the treatment of depression.
240933. Resistance to clomipramine in the treatment of depression.
240939. Resistance to imipramine in the treatment of depression.
240941. Resistance to nortripilline in the treatment of depression.
240947. Resistance to tamoxifene in breast cancer.
240949. Resistance to trimipramine in the treatment of depression.
240951. Resistance to venlafaxine in the treatment of depression.
240957. Susceptibility to adverse reaction due to amitriptyline treatment.
240959. Susceptibility to adverse reaction due to antipsychotics treatment.
240965. Susceptibility to adverse reaction due to clomipramine treatment.
240967. Susceptibility to adverse reaction due to codeine treatment.
240971. Susceptibility to adverse reaction due to imipramine treatment.
240979. Susceptibility to adverse reaction due to nortriptyline treatment.
240987. Susceptibility to adverse reaction due to trimipramine treatment.
240989. Susceptibility to adverse reaction due to venlafaxine treatment.
240915. Trimipramine toxicity.
240919. Venlafaxine toxicity.
PharmGKBiPA128.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 497497Cytochrome P450 2D6PRO_0000051731Add
BLAST

Proteomic databases

PaxDbiP10635.
PRIDEiP10635.

PTM databases

PhosphoSiteiP10635.

Expressioni

Inductioni

By pregnancy.

Gene expression databases

BgeeiP10635.
CleanExiHS_CYP2D6.
GenevestigatoriP10635.

Organism-specific databases

HPAiHPA045223.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000353820.

Structurei

Secondary structure

1
497
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni41 – 433
Helixi46 – 483
Helixi54 – 6512
Beta strandi67 – 737
Beta strandi76 – 816
Helixi83 – 919
Turni92 – 943
Helixi95 – 973
Helixi105 – 1106
Turni118 – 1214
Helixi126 – 14116
Turni143 – 1453
Helixi148 – 16518
Turni166 – 1694
Helixi175 – 19117
Helixi200 – 21415
Helixi219 – 2268
Helixi228 – 2325
Helixi234 – 2407
Helixi242 – 26120
Helixi271 – 28111
Turni282 – 2843
Helixi292 – 32332
Helixi325 – 33814
Beta strandi341 – 3433
Helixi347 – 3504
Helixi354 – 36714
Beta strandi370 – 3723
Beta strandi382 – 3843
Beta strandi387 – 3893
Beta strandi394 – 3974
Helixi399 – 4035
Turni406 – 4083
Beta strandi409 – 4113
Helixi417 – 4204
Helixi446 – 46318
Beta strandi464 – 4674
Beta strandi479 – 4879
Beta strandi492 – 4965

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2F9QX-ray3.00A/B/C/D34-497[»]
3QM4X-ray2.85A/B34-497[»]
3TBGX-ray2.10A/B/C/D34-497[»]
3TDAX-ray2.67A/B/C/D34-497[»]
ProteinModelPortaliP10635.
SMRiP10635. Positions 48-497.

Miscellaneous databases

EvolutionaryTraceiP10635.

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.

Phylogenomic databases

eggNOGiCOG2124.
HOVERGENiHBG015789.
KOiK17712.
PhylomeDBiP10635.
TreeFamiTF352043.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
IPR008069. Cyt_P450_E_grp-I_CYP2D-like.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00463. EP450I.
PR01686. EP450ICYP2D.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P10635-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MGLEALVPLA VIVAIFLLLV DLMHRRQRWA ARYPPGPLPL PGLGNLLHVD    50
FQNTPYCFDQ LRRRFGDVFS LQLAWTPVVV LNGLAAVREA LVTHGEDTAD 100
RPPVPITQIL GFGPRSQGVF LARYGPAWRE QRRFSVSTLR NLGLGKKSLE 150
QWVTEEAACL CAAFANHSGR PFRPNGLLDK AVSNVIASLT CGRRFEYDDP 200
RFLRLLDLAQ EGLKEESGFL REVLNAVPVL LHIPALAGKV LRFQKAFLTQ 250
LDELLTEHRM TWDPAQPPRD LTEAFLAEME KAKGNPESSF NDENLRIVVA 300
DLFSAGMVTT STTLAWGLLL MILHPDVQRR VQQEIDDVIG QVRRPEMGDQ 350
AHMPYTTAVI HEVQRFGDIV PLGVTHMTSR DIEVQGFRIP KGTTLITNLS 400
SVLKDEAVWE KPFRFHPEHF LDAQGHFVKP EAFLPFSAGR RACLGEPLAR 450
MELFLFFTSL LQHFSFSVPT GQPRPSHHGV FAFLVSPSPY ELCAVPR 497
Length:497
Mass (Da):55,769
Last modified:December 20, 2005 - v2
Checksum:i542B1D505DF3CDAC
GO
Isoform 2 (identifier: P10635-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     118-168: Missing.

Note: No experimental confirmation available.

Show »
Length:446
Mass (Da):50,061
Checksum:iD1FB49C5A4B10965
GO

Polymorphismi

Genetic variations in CYP2D6 are the cause of poor drug metabolism CYP2D6-related [MIMi:608902]. The CYP2D6 gene is highly polymorphic. CYP2D6 activity ranges widely within a population comprising ultrarapid (UM), extensive (EM), intermediate (IM) and poor (PM) metabolizer phenotypes. UM and PM are those most at risk for treatment failure or dose-dependent drug toxicity, respectively. Of the Caucasian populations of Europe and North America, 5%-10% are of the PM phenotype and are unable to metabolize the antihypersensitive drug debrisoquine and numerous other drugs.
Allele CYP2D6*7 was also known as CYP2D6E, allele CYP2D6*9 as CYP2D6C, allele CYP2D6*10 as CYP2D6J, allele CYP2D6*17 as CYP2D6Z.
Isozymes CYP2D6.45 (Lys-155, Cys-296 and Thr-486) and CYP2D6.46 (His-26, Lys-155, Cys-296 and Thr-486) are functional.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111V → M in allele CYP2D6*35. 1 Publication
Corresponds to variant rs769258 [ dbSNP | Ensembl ].
VAR_008366
Natural varianti26 – 261R → H in allele CYP2D6*21 and allele CYP2D6*46. 3 Publications
Corresponds to variant rs28371696 [ dbSNP | Ensembl ].
VAR_008367
Natural varianti28 – 281R → C in allele CYP2D6*22.
VAR_008368
Natural varianti34 – 341P → S in allele CYP2D6*10 and allele CYP2D6*14; poor debrisquone metabolism. 2 Publications
Corresponds to variant rs1065852 [ dbSNP | Ensembl ].
VAR_008336
Natural varianti42 – 421G → R in allele CYP2D6*12; impaired metabolism of sparteine. 1 Publication
Corresponds to variant rs5030862 [ dbSNP | Ensembl ].
VAR_001256
Natural varianti85 – 851A → V in allele CYP2D6*23.
VAR_008369
Natural varianti91 – 911L → M.1 Publication
Corresponds to variant rs28371703 [ dbSNP | Ensembl ].
VAR_024720
Natural varianti94 – 941H → R.1 Publication
Corresponds to variant rs28371704 [ dbSNP | Ensembl ].
VAR_024721
Natural varianti107 – 1071T → I in allele CYP2D6*17; poor debrisquone metabolism. 2 Publications
Corresponds to variant rs28371706 [ dbSNP | Ensembl ].
VAR_008337
Natural varianti120 – 1201F → I.1 Publication
Corresponds to variant rs1135822 [ dbSNP | Ensembl ].
VAR_024722
Natural varianti155 – 1551E → K in allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46. 2 Publications
Corresponds to variant rs28371710 [ dbSNP | Ensembl ].
VAR_024723
Natural varianti169 – 1691G → R in allele CYP2D6*14; poor debrisquone metabolism. 1 Publication
VAR_008338
Natural varianti212 – 2121G → E in allele CYP2D6*6B and allele CYP2D6*6C. 1 Publication
Corresponds to variant rs5030866 [ dbSNP | Ensembl ].
VAR_008339
Natural varianti231 – 2311L → P.
Corresponds to variant rs17002853 [ dbSNP | Ensembl ].
VAR_045679
Natural varianti237 – 2371A → S in allele CYP2D6*33. 1 Publication
Corresponds to variant rs28371717 [ dbSNP | Ensembl ].
VAR_008370
Natural varianti281 – 2811Missing in allele CYP2D6*9. 1 Publication
VAR_008347
Natural varianti296 – 2961R → C in allele CYP2D6*2, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46. 4 Publications
Corresponds to variant rs16947 [ dbSNP | Ensembl ].
VAR_008340
Natural varianti297 – 2971I → L in allele CYP2D6*24.
VAR_008371
Natural varianti300 – 3001A → G.
Corresponds to variant rs1058170 [ dbSNP | Ensembl ].
VAR_045680
Natural varianti311 – 3111S → L.
Corresponds to variant rs1800754 [ dbSNP | Ensembl ].
VAR_014633
Natural varianti324 – 3241H → P in allele CYP2D6*7; loss of activity. 1 Publication
Corresponds to variant rs5030867 [ dbSNP | Ensembl ].
VAR_008348
Natural varianti329 – 3291R → L.
Corresponds to variant rs3915951 [ dbSNP | Ensembl ].
VAR_059150
Natural varianti343 – 3431R → G in allele CYP2D6*25.
VAR_008372
Natural varianti365 – 3651R → H.
Corresponds to variant rs1058172 [ dbSNP | Ensembl ].
VAR_045681
Natural varianti369 – 3691I → T in allele CYP2D6*26.
VAR_008373
Natural varianti373 – 3731G → S.
Corresponds to variant rs2856959 [ dbSNP | Ensembl ].
VAR_059151
Natural varianti410 – 4101E → K in allele CYP2D6*27.
VAR_008374
Natural varianti418 – 4181E → K.1 Publication
VAR_024724
Natural varianti469 – 4691P → A.1 Publication
Corresponds to variant rs1135833 [ dbSNP | Ensembl ].
VAR_024725
Natural varianti478 – 4781H → Y.1 Publication
Corresponds to variant rs28371735 [ dbSNP | Ensembl ].
VAR_024726
Natural varianti486 – 4861S → T in allele CYP2D6*2, allele CYP2D6*10, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; impaired metabolism of sparteine. 5 Publications
Corresponds to variant rs1135840 [ dbSNP | Ensembl ].
VAR_008341

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei118 – 16851Missing in isoform 2. VSP_044486Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti374 – 3741V → M in AAA52153. 1 Publication
Sequence conflicti374 – 3741V → M in CAA30807. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M20403 mRNA. Translation: AAA52153.1.
X08006 mRNA. Translation: CAA30807.1.
M33388 Genomic DNA. Translation: AAA53500.1.
AY545216 Genomic DNA. Translation: AAS55001.1.
DQ282144 Genomic DNA. Translation: ABB77895.1.
DQ282145 Genomic DNA. Translation: ABB77896.1.
DQ282146 Genomic DNA. Translation: ABB77897.1.
DQ282151 Genomic DNA. Translation: ABB77899.1.
DQ282154 Genomic DNA. Translation: ABB77902.1.
DQ282155 Genomic DNA. Translation: ABB77903.1.
BX247885 Genomic DNA. Translation: CAP58857.1.
BC066877 mRNA. Translation: AAH66877.1.
BC075023 mRNA. Translation: AAH75023.1.
BC075024 mRNA. Translation: AAH75024.1.
CCDSiCCDS33657.1. [P10635-2]
CCDS46721.1. [P10635-1]
PIRiS01199. O4HUD1.
RefSeqiNP_000097.3. NM_000106.5. [P10635-1]
NP_001020332.2. NM_001025161.2. [P10635-2]
UniGeneiHs.333497.
Hs.648256.

Genome annotation databases

EnsembliENST00000359033; ENSP00000351927; ENSG00000100197.
GeneIDi1565.
KEGGihsa:1565.
UCSCiuc003bce.3. human. [P10635-1]
uc003bcf.3. human. [P10635-2]

Polymorphism databases

DMDMi84028191.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Cytochrome P450 Allele Nomenclature Committee

CYP2D6 alleles

Wikipedia

CYP2D6 entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M20403 mRNA. Translation: AAA52153.1 .
X08006 mRNA. Translation: CAA30807.1 .
M33388 Genomic DNA. Translation: AAA53500.1 .
AY545216 Genomic DNA. Translation: AAS55001.1 .
DQ282144 Genomic DNA. Translation: ABB77895.1 .
DQ282145 Genomic DNA. Translation: ABB77896.1 .
DQ282146 Genomic DNA. Translation: ABB77897.1 .
DQ282151 Genomic DNA. Translation: ABB77899.1 .
DQ282154 Genomic DNA. Translation: ABB77902.1 .
DQ282155 Genomic DNA. Translation: ABB77903.1 .
BX247885 Genomic DNA. Translation: CAP58857.1 .
BC066877 mRNA. Translation: AAH66877.1 .
BC075023 mRNA. Translation: AAH75023.1 .
BC075024 mRNA. Translation: AAH75024.1 .
CCDSi CCDS33657.1. [P10635-2 ]
CCDS46721.1. [P10635-1 ]
PIRi S01199. O4HUD1.
RefSeqi NP_000097.3. NM_000106.5. [P10635-1 ]
NP_001020332.2. NM_001025161.2. [P10635-2 ]
UniGenei Hs.333497.
Hs.648256.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2F9Q X-ray 3.00 A/B/C/D 34-497 [» ]
3QM4 X-ray 2.85 A/B 34-497 [» ]
3TBG X-ray 2.10 A/B/C/D 34-497 [» ]
3TDA X-ray 2.67 A/B/C/D 34-497 [» ]
ProteinModelPortali P10635.
SMRi P10635. Positions 48-497.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000353820.

Chemistry

BindingDBi P10635.
ChEMBLi CHEMBL289.
DrugBanki DB01193. Acebutolol.
DB00918. Almotriptan.
DB00866. Alprenolol.
DB01118. Amiodarone.
DB00321. Amitriptyline.
DB00613. Amodiaquine.
DB00182. Amphetamine.
DB01274. Arformoterol.
DB01238. Aripiprazole.
DB00335. Atenolol.
DB00289. Atomoxetine.
DB00972. Azelastine.
DB00612. Bisoprolol.
DB00921. Buprenorphine.
DB01156. Bupropion.
DB01197. Captopril.
DB00521. Carteolol.
DB01136. Carvedilol.
DB00482. Celecoxib.
DB00185. Cevimeline.
DB01114. Chlorpheniramine.
DB00477. Chlorpromazine.
DB00672. Chlorpropamide.
DB00356. Chlorzoxazone.
DB01410. Ciclesonide.
DB00501. Cimetidine.
DB01012. Cinacalcet.
DB00215. Citalopram.
DB01242. Clomipramine.
DB00575. Clonidine.
DB00257. Clotrimazole.
DB00363. Clozapine.
DB00318. Codeine.
DB00496. Darifenacin.
DB04840. Debrisoquin.
DB00705. Delavirdine.
DB01151. Desipramine.
DB00967. Desloratadine.
DB01191. Dexfenfluramine.
DB01576. Dextroamphetamine.
DB00514. Dextromethorphan.
DB00527. Dibucaine.
DB00586. Diclofenac.
DB00343. Diltiazem.
DB01075. Diphenhydramine.
DB00757. Dolasetron.
DB00843. Donepezil.
DB01142. Doxepin.
DB00476. Duloxetine.
DB01228. Encainide.
DB01175. Escitalopram.
DB00736. Esomeprazole.
DB00574. Fenfluramine.
DB01195. Flecainide.
DB00623. Fluphenazine.
DB00176. Fluvoxamine.
DB00983. Formoterol.
DB00674. Galantamine.
DB00317. Gefitinib.
DB01218. Halofantrine.
DB00502. Haloperidol.
DB00956. Hydrocodone.
DB00327. Hydromorphone.
DB00557. Hydroxyzine.
DB00458. Imipramine.
DB00332. Ipratropium.
DB01167. Itraconazole.
DB01026. Ketoconazole.
DB01210. Levobunolol.
DB00281. Lidocaine.
DB00455. Loratadine.
DB00934. Maprotiline.
DB00454. Meperidine.
DB00532. Mephenytoin.
DB01071. Mequitazine.
DB00933. Mesoridazine.
DB01403. Methotrimeprazine.
DB01233. Metoclopramide.
DB00264. Metoprolol.
DB00379. Mexiletine.
DB06148. Mianserin.
DB01110. Miconazole.
DB00683. Midazolam.
DB00805. Minaprine.
DB00370. Mirtazapine.
DB01171. Moclobemide.
DB00295. Morphine.
DB01149. Nefazodone.
DB00622. Nicardipine.
DB00699. Nicergoline.
DB01115. Nifedipine.
DB00540. Nortriptyline.
DB00904. Ondansetron.
DB00497. Oxycodone.
DB01192. Oxymorphone.
DB01267. Paliperidone.
DB00377. Palonosetron.
DB00715. Paroxetine.
DB01074. Perhexiline.
DB00850. Perphenazine.
DB00914. Phenformin.
DB00830. Phenmetrazine.
DB00960. Pindolol.
DB01035. Procainamide.
DB00433. Prochlorperazine.
DB01131. Proguanil.
DB01069. Promethazine.
DB01182. Propafenone.
DB00647. Propoxyphene.
DB00571. Propranolol.
DB01224. Quetiapine.
DB00908. Quinidine.
DB00468. Quinine.
DB00863. Ranitidine.
DB00243. Ranolazine.
DB00234. Reboxetine.
DB00734. Risperidone.
DB00503. Ritonavir.
DB01037. Selegiline.
DB06144. Sertindole.
DB01104. Sertraline.
DB00675. Tamoxifen.
DB00857. Terbinafine.
DB00342. Terfenadine.
DB00679. Thioridazine.
DB00373. Timolol.
DB01409. Tiotropium.
DB01124. Tolbutamide.
DB01036. Tolterodine.
DB00193. Tramadol.
DB00752. Tranylcypromine.
DB00656. Trazodone.
DB00726. Trimipramine.
DB00285. Venlafaxine.
DB01624. Zuclopenthixol.

PTM databases

PhosphoSitei P10635.

Polymorphism databases

DMDMi 84028191.

Proteomic databases

PaxDbi P10635.
PRIDEi P10635.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000359033 ; ENSP00000351927 ; ENSG00000100197 .
GeneIDi 1565.
KEGGi hsa:1565.
UCSCi uc003bce.3. human. [P10635-1 ]
uc003bcf.3. human. [P10635-2 ]

Organism-specific databases

CTDi 1565.
GeneCardsi GC22M042522.
HGNCi HGNC:2625. CYP2D6.
HPAi HPA045223.
MIMi 124030. gene.
608902. phenotype.
neXtProti NX_P10635.
Orphaneti 240847. Amitriptyline toxicity.
240849. Antipsychotics toxicity.
240865. Clomipramine toxicity.
240867. Codeine toxicity.
240883. Imipramine toxicity.
240893. Nortriptyline toxicity.
240931. Resistance to amitriptyline in the treatment of depression.
240933. Resistance to clomipramine in the treatment of depression.
240939. Resistance to imipramine in the treatment of depression.
240941. Resistance to nortripilline in the treatment of depression.
240947. Resistance to tamoxifene in breast cancer.
240949. Resistance to trimipramine in the treatment of depression.
240951. Resistance to venlafaxine in the treatment of depression.
240957. Susceptibility to adverse reaction due to amitriptyline treatment.
240959. Susceptibility to adverse reaction due to antipsychotics treatment.
240965. Susceptibility to adverse reaction due to clomipramine treatment.
240967. Susceptibility to adverse reaction due to codeine treatment.
240971. Susceptibility to adverse reaction due to imipramine treatment.
240979. Susceptibility to adverse reaction due to nortriptyline treatment.
240987. Susceptibility to adverse reaction due to trimipramine treatment.
240989. Susceptibility to adverse reaction due to venlafaxine treatment.
240915. Trimipramine toxicity.
240919. Venlafaxine toxicity.
PharmGKBi PA128.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2124.
HOVERGENi HBG015789.
KOi K17712.
PhylomeDBi P10635.
TreeFami TF352043.

Enzyme and pathway databases

Reactomei REACT_13425. Miscellaneous substrates.
REACT_13543. Xenobiotics.
REACT_13797. CYP2E1 reactions.
REACT_13814. Fatty acids.
SABIO-RK P10635.

Miscellaneous databases

EvolutionaryTracei P10635.
GeneWikii CYP2D6.
GenomeRNAii 1565.
NextBioi 6449.
PROi P10635.
SOURCEi Search...

Gene expression databases

Bgeei P10635.
CleanExi HS_CYP2D6.
Genevestigatori P10635.

Family and domain databases

Gene3Di 1.10.630.10. 1 hit.
InterProi IPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
IPR008069. Cyt_P450_E_grp-I_CYP2D-like.
[Graphical view ]
Pfami PF00067. p450. 1 hit.
[Graphical view ]
PRINTSi PR00463. EP450I.
PR01686. EP450ICYP2D.
PR00385. P450.
SUPFAMi SSF48264. SSF48264. 1 hit.
PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human debrisoquine 4-hydroxylase (P450IID1): cDNA and deduced amino acid sequence and assignment of the CYP2D locus to chromosome 22."
    Gonzalez F.J., Vilbois F., Hardwick J.P., McBride O.W., Nebert D.W., Gelboin H.V., Meyer U.A.
    Genomics 2:174-179(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Characterization of the common genetic defect in humans deficient in debrisoquine metabolism."
    Gonzalez F.J., Skoda R.C., Kimura S., Umeno M., Zanger U.M., Nebert D.W., Gelboin H.V., Hardwick J.P., Meyer U.A.
    Nature 331:442-446(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Liver.
  3. "The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene."
    Kimura S., Umeno M., Skoda R.C., Meyer U.A., Gonzalez F.J.
    Am. J. Hum. Genet. 45:889-904(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans."
    Gaedigk A., Bhathena A., Ndjountche L., Pearce R.E., Abdel-Rahman S.M., Alander S.W., Bradford L.D., Rogan P.K., Leeder J.S.
    Pharmacogenomics J. 5:173-182(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CYP2D6*1), IDENTIFICATION OF ALLELES CYP2D6*41B; CYP2D6*45A; CYP2D6*45B AND CYP2D6*46, VARIANTS HIS-26; LYS-155; CYS-296 AND THR-486, CHARACTERIZATION OF ISOZYMES CYP2D6.45 AND CYP2D6.46.
  5. "CYP2D6 evolution and allele diversity among human races."
    Koch W.H., Nikoloff D.M., Lu W., Pan R.M., deLeon J., Wedlund P.J.
    Submitted (NOV-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT HIS-26.
  6. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS CYS-296 AND THR-486.
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS CYS-296 AND THR-486.
  8. Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 34-497 IN COMPLEX WITH HEME, FUNCTION.
  9. "Identification of a new variant CYP2D6 allele lacking the codon encoding Lys-281: possible association with the poor metabolizer phenotype."
    Tyndale R., Aoyama T., Broly F., Matsunaga T., Inaba T., Kalow W., Gelboin H.V., Meyer U.A., Gonzalez F.J.
    Pharmacogenetics 1:26-32(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYP2D6*9 LYS-281 DEL.
  10. "Evidence for a new variant CYP2D6 allele CYP2D6J in a Japanese population associated with lower in vivo rates of sparteine metabolism."
    Yokota H., Tamura S., Furuya H., Kimura S., Watanabe M., Kanazawa I., Kondo I., Gonzalez F.J.
    Pharmacogenetics 3:256-263(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CYP2D6*10 SER-34 AND THR-486.
  11. "A missense mutation in exon 6 of the CYP2D6 gene leading to a histidine 324 to proline exchange is associated with the poor metabolizer phenotype of sparteine."
    Evert B., Griese E.U., Eichelbaum M.
    Naunyn Schmiedebergs Arch. Pharmacol. 350:434-439(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYP2D6*7 PRO-324.
  12. "An inactive cytochrome P450 CYP2D6 allele containing a deletion and a base substitution."
    Daly A.K., Leathart J.B., London S.J., Idle J.R.
    Hum. Genet. 95:337-341(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYP2D6*6B/6C GLU-212.
  13. "A novel mutant variant of the CYP2D6 gene (CYP2D6*17) common in a black African population: association with diminished debrisoquine hydroxylase activity."
    Masimirembwa C., Persson I., Bertilsson L., Hasler J., Ingelman-Sundberg M.
    Br. J. Clin. Pharmacol. 42:713-719(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYP2D6*17 ILE-107.
  14. "An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine."
    Marez D., Legrand M., Sabbagh N., Lo-Guidice J.-M., Boone P., Broly F.
    Hum. Genet. 97:668-670(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYP2D6*12 ARG-42.
  15. "Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution."
    Marez D., Legrand M., Sabbagh N., Guidice J.M., Spire C., Lafitte J.J., Meyer U.A., Broly F.
    Pharmacogenetics 7:193-202(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS.
  16. "G169R mutation diminishes the metabolic activity of CYP2D6 in Chinese."
    Wang S.L., Lai M.D., Huang J.D.
    Drug Metab. Dispos. 27:385-388(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYP2D6*14 ARG-169.
  17. "Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population."
    Solus J.F., Arietta B.J., Harris J.R., Sexton D.P., Steward J.Q., McMunn C., Ihrie P., Mehall J.M., Edwards T.L., Dawson E.P.
    Pharmacogenomics 5:895-931(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MET-11; HIS-26; SER-34; MET-91; ARG-94; ILE-107; ILE-120; LYS-155; SER-237; CYS-296; LYS-418; ALA-469; TYR-478 AND THR-486.

Entry informationi

Entry nameiCP2D6_HUMAN
AccessioniPrimary (citable) accession number: P10635
Secondary accession number(s): Q16752
, Q2XND6, Q2XND7, Q2XNE0, Q6B012, Q6NXU8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: December 20, 2005
Last modified: September 3, 2014
This is version 162 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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