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UniProtKB - P10635 (CP2D6_HUMAN)

Entry version 220 (10 Feb 2021)
Sequence version 2 (20 Dec 2005)
Previous versions | rss
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Protein

Cytochrome P450 2D6

Gene

CYP2D6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

A cytochrome P450 monooxygenase involved in the metabolism of fatty acids, steroids and retinoids (PubMed:18698000, PubMed:19965576, PubMed:20972997, PubMed:21289075, PubMed:21576599). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:18698000, PubMed:19965576, PubMed:20972997, PubMed:21289075, PubMed:21576599). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) (PubMed:19965576, PubMed:20972997). Metabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 20-hydroxyeicosatetraenoic acid ethanolamide (20-HETE-EA) and 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling (PubMed:18698000, PubMed:21289075). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis (PubMed:21576599). Catalyzes the oxidative transformations of all-trans retinol to all-trans retinal, a precursor for the active form all-trans-retinoic acid (PubMed:10681376). Also involved in the oxidative metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants.7 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

heme

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=67 µM for all-trans retinol1 Publication
  2. KM=1.3 µM for anandamide (oxidation to 20-HETE)1 Publication
  3. KM=2.1 µM for anandamide (oxidation to 8,9-EpETrE-EA)1 Publication
  4. KM=2.6 µM for anandamide (oxidation to 11,12-EpETrE-EA)1 Publication
  5. KM=2.8 µM for anandamide (oxidation to 14,15-EpETrE-EA)1 Publication
  1. Vmax=193 pmol/min/nmol enzyme toward all-trans retinol1 Publication
  2. Vmax=3.7 pmol/min/nmol enzyme toward anandamide (oxidation to 20-HETE)1 Publication
  3. Vmax=1.6 pmol/min/nmol enzyme toward anandamide (oxidation to 8,9-EpETrE-EA)1 Publication
  4. Vmax=1.1 pmol/min/nmol enzyme toward anandamide (oxidation to 11,12-EpETrE-EA)1 Publication
  5. Vmax=1.3 pmol/min/nmol enzyme toward anandamide (oxidation to 14,15-EpETrE-EA)1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: retinol metabolism

This protein is involved in the pathway retinol metabolism, which is part of Cofactor metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway retinol metabolism and in Cofactor metabolism.

Pathwayi: fatty acid metabolism

This protein is involved in the pathway fatty acid metabolism, which is part of Lipid metabolism.2 Publications
View all proteins of this organism that are known to be involved in the pathway fatty acid metabolism and in Lipid metabolism.

Pathwayi: cholesterol metabolism

This protein is involved in the pathway cholesterol metabolism, which is part of Steroid metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway cholesterol metabolism and in Steroid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei301SubstrateCurated1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi443Iron (heme axial ligand)1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
Biological processCholesterol metabolism, Fatty acid metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		1.14.14.1, 2681
1.14.99.38, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P10635

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-211935, Fatty acids
R-HSA-211958, Miscellaneous substrates
R-HSA-211981, Xenobiotics
R-HSA-211999, CYP2E1 reactions
R-HSA-9027307, Biosynthesis of maresin-like SPMs

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P10635

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00199
UPA00296
UPA00912

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001204

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cytochrome P450 2D61 Publication (EC:1.14.14.-2 Publications)
Alternative name(s):
CYPIID6
Cholesterol 25-hydroxylase1 Publication
Cytochrome P450-DB1
Debrisoquine 4-hydroxylase
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CYP2D61 PublicationImported
Synonyms:CYP2DL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2625, CYP2D6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		124030, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P10635

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000100197.20

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		1565

MalaCards human disease database

More...MalaCardsi		CYP2D6
MIMi608902, phenotype

Open Targets

More...OpenTargetsi		ENSG00000100197

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		413667, Antidepressant or antipsychotic toxicity or dose selection
240867, Codeine toxicity
240947, Resistance to tamoxifene

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA128

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P10635, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL289

Drug and drug target database

More...DrugBanki		DB01562, 1-(2-Phenylethyl)-4-phenyl-4-acetoxypiperidine
DB01472, 4-Methoxyamphetamine
DB14010, 5-methoxy-N,N-dimethyltryptamine
DB12001, Abemaciclib
DB05812, Abiraterone
DB01193, Acebutolol
DB00316, Acetaminophen
DB00918, Almotriptan
DB06203, Alogliptin
DB00866, Alprenolol
DB01424, Aminophenazone
DB01118, Amiodarone
DB00321, Amitriptyline
DB00381, Amlodipine
DB00613, Amodiaquine
DB00543, Amoxapine
DB00182, Amphetamine
DB00701, Amprenavir
DB11785, Anisodamine
DB01435, Antipyrine
DB01429, Aprindine
DB01274, Arformoterol
DB01238, Aripiprazole
DB14185, Aripiprazole lauroxil
DB09204, Arotinolol
DB11638, Artenimol
DB06216, Asenapine
DB00637, Astemizole
DB11586, Asunaprevir
DB00335, Atenolol
DB00289, Atomoxetine
DB01076, Atorvastatin
DB00972, Azelastine
DB04957, Azimilide
DB09013, Befunolol
DB06770, Benzyl alcohol
DB01244, Bepridil
DB00195, Betaxolol
DB01295, Bevantolol
DB01128, Bicalutamide
DB04889, Bicifadine
DB00810, Biperiden
DB13975, Black cohosh
DB08807, Bopindolol
DB00188, Bortezomib
DB09128, Brexpiprazole
DB12752, Bucindolol
DB06726, Bufuralol
DB00297, Bupivacaine
DB08808, Bupranolol
DB00921, Buprenorphine
DB01156, Bupropion
DB00490, Buspirone
DB09173, Butyrfentanyl
DB00201, Caffeine
DB09061, Cannabidiol
DB06016, Cariprazine
DB00521, Carteolol
DB01136, Carvedilol
DB00482, Celecoxib
DB04846, Celiprolol
DB00439, Cerivastatin
DB00185, Cevimeline
DB00608, Chloroquine
DB01114, Chlorpheniramine
DB00477, Chlorpromazine
DB00356, Chlorzoxazone
DB01410, Ciclesonide
DB01166, Cilostazol
DB00501, Cimetidine
DB01012, Cinacalcet
DB00568, Cinnarizine
DB00604, Cisapride
DB00215, Citalopram
DB00283, Clemastine
DB04920, Clevidipine
DB14025, Clinafloxacin
DB00349, Clobazam
DB00845, Clofazimine
DB01242, Clomipramine
DB00575, Clonidine
DB13508, Cloranolol
DB00257, Clotrimazole
DB00363, Clozapine
DB09065, Cobicistat
DB00907, Cocaine
DB00318, Codeine
DB11672, Curcumin
DB14635, Curcumin sulfate
DB00924, Cyclobenzaprine
DB00091, Cyclosporine
DB11963, Dacomitinib
DB06292, Dapagliflozin
DB04884, Dapoxetine
DB00496, Darifenacin
DB01264, Darunavir
DB09183, Dasabuvir
DB04840, Debrisoquine
DB00705, Delavirdine
DB06512, Deramciclane
DB01151, Desipramine
DB06700, Desvenlafaxine
DB12161, Deutetrabenazine
DB13679, Dexchlorpheniramine
DB09555, Dexchlorpheniramine maleate
DB01191, Dexfenfluramine
DB00633, Dexmedetomidine
DB01576, Dextroamphetamine
DB00514, Dextromethorphan
DB00647, Dextropropoxyphene
DB11994, Diacerein
DB01551, Dihydrocodeine
DB00343, Diltiazem
DB01093, Dimethyl sulfoxide
DB01075, Diphenhydramine
DB00757, Dolasetron
DB01184, Domperidone
DB00843, Donepezil
DB09167, Dosulepin
DB00590, Doxazosin
DB01142, Doxepin
DB00997, Doxorubicin
DB04855, Dronedarone
DB00476, Duloxetine
DB00625, Efavirenz
DB11979, Elagolix
DB00216, Eletriptan
DB15444, Elexacaftor
DB09039, Eliglustat
DB13874, Enasidenib
DB01228, Encainide
DB06735, Enclomiphene
DB11718, Encorafenib
DB00494, Entacapone
DB13757, Epanolol
DB00751, Epinastine
DB00530, Erlotinib
DB13443, Esatenolol
DB01175, Escitalopram
DB06678, Esmirtazapine
DB00187, Esmolol
DB01466, Ethylmorphine
DB01628, Etoricoxib
DB01590, Everolimus
DB12500, Fedratinib
DB01023, Felodipine
DB00574, Fenfluramine
DB06702, Fesoterodine
DB01195, Flecainide
DB04841, Flunarizine
DB00472, Fluoxetine
DB00623, Fluphenazine
DB01095, Fluvastatin
DB00176, Fluvoxamine
DB00983, Formoterol
DB02703, Fusidic acid
DB00674, Galantamine
DB00317, Gefitinib
DB08909, Glycerol phenylbutyrate
DB01218, Halofantrine
DB00502, Haloperidol
DB00956, Hydrocodone
DB01611, Hydroxychloroquine
DB01005, Hydroxyurea
DB00557, Hydroxyzine
DB09053, Ibrutinib
DB01177, Idarubicin
DB04946, Iloperidone
DB00619, Imatinib
DB00458, Imipramine
DB08952, Indenolol
DB00224, Indinavir
DB06370, Indisulam
DB13293, Ipecac
DB04818, Iproniazid
DB11633, Isavuconazole
DB00951, Isoniazid
DB11757, Istradefylline
DB09570, Ixazomib
DB01026, Ketoconazole
DB00598, Labetalol
DB12212, Landiolol
DB00448, Lansoprazole
DB11732, Lasmiditan
DB09078, Lenvatinib
DB00528, Lercanidipine
DB12070, Letermovir
DB09351, Levobetaxolol
DB01210, Levobunolol
DB08918, Levomilnacipran
DB13139, Levosalbutamol
DB00281, Lidocaine
DB01255, Lisdexamfetamine
DB04948, Lofexidine
DB01206, Lomustine
DB00836, Loperamide
DB01601, Lopinavir
DB00455, Loratadine
DB04871, Lorcaserin
DB09195, Lorpiprazole
DB06708, Lumefantrine
DB04829, Lysergic acid diethylamide
DB09238, Manidipine
DB00934, Maprotiline
DB00737, Meclizine
DB14009, Medical Cannabis
DB09224, Melperone
DB00454, Meperidine
DB00532, Mephenytoin
DB13530, Mepindolol
DB06691, Mepyramine
DB01071, Mequitazine
DB00933, Mesoridazine
DB01577, Metamfetamine
DB00333, Methadone
DB00763, Methimazole
DB01403, Methotrimeprazine
DB01028, Methoxyflurane
DB09241, Methylene blue
DB01214, Metipranolol
DB01233, Metoclopramide
DB00264, Metoprolol
DB00379, Mexiletine
DB06148, Mianserin
DB01388, Mibefradil
DB01110, Miconazole
DB00211, Midodrine
DB01454, Midomafetamine
DB06595, Midostaurin
DB00834, Mifepristone
DB00805, Minaprine
DB08893, Mirabegron
DB00370, Mirtazapine
DB12523, Mizolastine
DB01171, Moclobemide
DB14011, Nabiximols
DB09049, Naloxegol
DB00731, Nateglinide
DB04861, Nebivolol
DB01149, Nefazodone
DB00220, Nelfinavir
DB09048, Netupitant
DB00238, Nevirapine
DB00627, Niacin
DB00622, Nicardipine
DB00699, Nicergoline
DB02701, Nicotinamide
DB00184, Nicotine
DB01115, Nifedipine
DB04868, Nilotinib
DB00540, Nortriptyline
DB00334, Olanzapine
DB00338, Omeprazole
DB00904, Ondansetron
DB11130, Opium
DB04911, Oritavancin
DB01173, Orphenadrine
DB11837, Osilodrostat
DB04938, Ospemifene
DB01096, Oxamniquine
DB01580, Oxprenolol
DB01062, Oxybutynin
DB00497, Oxycodone
DB06412, Oxymetholone
DB01192, Oxymorphone
DB01267, Paliperidone
DB00377, Palonosetron
DB06603, Panobinostat
DB00715, Paroxetine
DB06589, Pazopanib
DB00022, Peginterferon alfa-2b
DB01359, Penbutolol
DB00738, Pentamidine
DB01074, Perhexiline
DB08922, Perospirone
DB00850, Perphenazine
DB03783, Phenacetin
DB00780, Phenelzine
DB00914, Phenformin
DB06819, Phenylbutyric acid
DB00252, Phenytoin
DB01100, Pimozide
DB00960, Pindolol
DB00592, Piperazine
DB01621, Pipotiazine
DB11642, Pitolisant
DB08901, Ponatinib
DB01297, Practolol
DB01087, Primaquine
DB01035, Procainamide
DB00433, Prochlorperazine
DB00396, Progesterone
DB01131, Proguanil
DB00420, Promazine
DB01069, Promethazine
DB09288, Propacetamol
DB01182, Propafenone
DB00571, Propranolol
DB01224, Quetiapine
DB00908, Quinidine
DB00468, Quinine
DB01129, Rabeprazole
DB00863, Ranitidine
DB00243, Ranolazine
DB00234, Reboxetine
DB14761, Remdesivir
DB00409, Remoxipride
DB06506, Repinotan
DB11855, Revefenacin
DB13174, Rhein
DB08864, Rilpivirine
DB14840, Ripretinib
DB00734, Risperidone
DB12693, Ritanserin
DB00503, Ritonavir
DB09291, Rolapitant
DB00412, Rosiglitazone
DB05271, Rotigotine
DB12332, Rucaparib
DB11614, Rupatadine
DB06654, Safinamide
DB01232, Saquinavir
DB01037, Selegiline
DB06144, Sertindole
DB01104, Sertraline
DB00203, Sildenafil
DB00641, Simvastatin
DB01591, Solifenacin
DB00398, Sorafenib
DB00489, Sotalol
DB06727, Sparteine
DB01323, St. John's Wort
DB09118, Stiripentol
DB06820, Sulconazole
DB00259, Sulfanilamide
DB06729, Sulfaphenazole
DB06608, Tafenoquine
DB11770, Talinolol
DB00675, Tamoxifen
DB00706, Tamsulosin
DB06204, Tapentadol
DB01079, Tegaserod
DB06287, Temsirolimus
DB00857, Terbinafine
DB00342, Terfenadine
DB13775, Tertatolol
DB04905, Tesmilifene
DB04844, Tetrabenazine
DB00277, Theophylline
DB00679, Thioridazine
DB01623, Thiothixene
DB00208, Ticlopidine
DB00373, Timolol
DB01409, Tiotropium
DB00932, Tipranavir
DB01036, Tolterodine
DB05109, Trabectedin
DB00193, Tramadol
DB00752, Tranylcypromine
DB00656, Trazodone
DB12245, Triclabendazole
DB00726, Trimipramine
DB00792, Tripelennamine
DB00209, Trospium
DB15328, Ubrogepant
DB09076, Umeclidinium
DB13609, Umifenovir
DB15091, Upadacitinib
DB11915, Valbenazine
DB08881, Vemurafenib
DB00285, Venlafaxine
DB00661, Verapamil
DB06217, Vernakalant
DB06684, Vilazodone
DB00570, Vinblastine
DB00361, Vinorelbine
DB09068, Vortioxetine
DB01392, Yohimbine
DB00425, Zolpidem
DB01624, Zuclopenthixol

DrugCentral

More...DrugCentrali		P10635

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		1329

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CYP2D6

Domain mapping of disease mutations (DMDM)

More...DMDMi		84028191

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000517311 – 497Cytochrome P450 2D6Add BLAST497

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P10635

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P10635

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P10635

PeptideAtlas

More...PeptideAtlasi		P10635

PRoteomics IDEntifications database

More...PRIDEi		P10635

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		52623 [P10635-1]
66778

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P10635

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P10635

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By pregnancy.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100197, Expressed in right lobe of liver and 111 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P10635, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P10635, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000100197, Tissue enriched (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107940, 4 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000353820

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P10635

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P10635, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1497
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		P10635

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P10635

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P10635

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0156, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153331

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001570_22_3_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P10635

Identification of Orthologs from Complete Genome Data

More...OMAi		GGIWPVD

Database for complete collections of gene phylogenies

More...PhylomeDBi		P10635

TreeFam database of animal gene trees

More...TreeFami		TF352043

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.630.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001128, Cyt_P450
IPR017972, Cyt_P450_CS
IPR002401, Cyt_P450_E_grp-I
IPR008069, Cyt_P450_E_grp-I_CYP2D-like
IPR036396, Cyt_P450_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00067, p450, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00463, EP450I
PR01686, EP450ICYP2D
PR00385, P450

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48264, SSF48264, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00086, CYTOCHROME_P450, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        10         20         30         40         50
MGLEALVPLA VIVAIFLLLV DLMHRRQRWA ARYPPGPLPL PGLGNLLHVD 
        60         70         80         90        100
FQNTPYCFDQ LRRRFGDVFS LQLAWTPVVV LNGLAAVREA LVTHGEDTAD 
       110        120        130        140        150
RPPVPITQIL GFGPRSQGVF LARYGPAWRE QRRFSVSTLR NLGLGKKSLE 
       160        170        180        190        200
QWVTEEAACL CAAFANHSGR PFRPNGLLDK AVSNVIASLT CGRRFEYDDP 
       210        220        230        240        250
RFLRLLDLAQ EGLKEESGFL REVLNAVPVL LHIPALAGKV LRFQKAFLTQ 
       260        270        280        290        300
LDELLTEHRM TWDPAQPPRD LTEAFLAEME KAKGNPESSF NDENLRIVVA 
       310        320        330        340        350
DLFSAGMVTT STTLAWGLLL MILHPDVQRR VQQEIDDVIG QVRRPEMGDQ 
       360        370        380        390        400
AHMPYTTAVI HEVQRFGDIV PLGVTHMTSR DIEVQGFRIP KGTTLITNLS 
       410        420        430        440        450
SVLKDEAVWE KPFRFHPEHF LDAQGHFVKP EAFLPFSAGR RACLGEPLAR 
       460        470        480        490 
MELFLFFTSL LQHFSFSVPT GQPRPSHHGV FAFLVSPSPY ELCAVPR
Length:497
Mass (Da):55,769
Last modified:December 20, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6NWU0Q6NWU0_HUMAN
Cytochrome P450 2D6
CYP2D6
497Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q38LG0Q38LG0_HUMAN
CYP2D6
CYP2D6
497Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GV74A0A1B0GV74_HUMAN
Cytochrome P450 2D6
CYP2D6
446Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JLK7A0A0G2JLK7_HUMAN
Cytochrome P450 2D6
CYP2D6
446Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C1ID54C1ID54_HUMAN
Cytochrome P450 2D6
CYP2D6
497Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUD8A0A1B0GUD8_HUMAN
Cytochrome P450 2D6
CYP2D6
180Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7ENE7E7ENE7_HUMAN
Cytochrome P450 2D6
CYP2D6
494Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BY38H7BY38_HUMAN
Cytochrome P450 2D6
CYP2D6
180Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GU72A0A1B0GU72_HUMAN
Cytochrome P450 2D6
CYP2D6
494Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JSD7A0A0G2JSD7_HUMAN
Cytochrome P450 2D6
CYP2D6
494Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti374V → M in AAA52153 (PubMed:3410476).Curated1
Sequence conflicti374V → M in CAA30807 (PubMed:3123997).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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. Different alleles are known, including CYP2D6*1 (PubMed:15768052), CYP2D6*2 (PubMed:25469868), CYP2D6*6B/6C (PubMed:7868129), CYP2D6*7 also known CYP2D6E (PubMed:7845481), CYP2D6*9 also known CYP2D6C (PubMed:1844820), CYP2D6*10 also known CYP2D6J (PubMed:8287064, PubMed:25469868), CYP2D6*12 (PubMed:8655150), CYP2D6*14 (PubMed:10064570), CYP2D6*17 also known CYP2D6Z (PubMed:8971426), CYP2D6*41B (PubMed:15768052), CYP2D6*45A (PubMed:15768052), CYP2D6*45B (PubMed:15768052), CYP2D6*46 (PubMed:15768052), CYP2D6*87 (PubMed:25469868), CYP2D6*88 (PubMed:25469868), CYP2D6*89 (PubMed:25469868), CYP2D6*90 (PubMed:25469868), CYP2D6*91 (PubMed:25469868), CYP2D6*93 (PubMed:25469868), C CYP2D6*94 (PubMed:25469868), CYP2D6*97 (PubMed:25469868) and CYP2D6*98 (PubMed:25469868). Isozymes CYP2D6.45 (Lys-155, Cys-296 and Thr-486) and CYP2D6.46 (His-26, Lys-155, Cys-296 and Thr-486) are functional (PubMed:15768052). The sequence shown is that of isozyme CYP2D6.1 corresponding to allele CYP2D6*1.9 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0727645A → V in allele CYP2D6*87. 1 PublicationCorresponds to variant dbSNP:rs773790593Ensembl.1
Natural variantiVAR_00836611V → M in allele CYP2D6*35. 1 PublicationCorresponds to variant dbSNP:rs769258EnsemblClinVar.1
Natural variantiVAR_07276525R → Q1 PublicationCorresponds to variant dbSNP:rs138417770Ensembl.1
Natural variantiVAR_00836726R → H in allele CYP2D6*21 and allele CYP2D6*46. 3 PublicationsCorresponds to variant dbSNP:rs28371696Ensembl.1
Natural variantiVAR_00836828R → C in allele CYP2D6*22. Corresponds to variant dbSNP:rs138100349Ensembl.1
Natural variantiVAR_00833634P → S in allele CYP2D6*10 and allele CYP2D6*14; poor debrisquone metabolism. 3 PublicationsCorresponds to variant dbSNP:rs1065852Ensembl.1
Natural variantiVAR_00125642G → R in allele CYP2D6*12; impaired metabolism of sparteine. 1 PublicationCorresponds to variant dbSNP:rs5030862EnsemblClinVar.1
Natural variantiVAR_00836985A → V in allele CYP2D6*23. Corresponds to variant dbSNP:rs267608310Ensembl.1
Natural variantiVAR_02472091L → M1 PublicationCorresponds to variant dbSNP:rs28371703EnsemblClinVar.1
Natural variantiVAR_02472194H → R1 PublicationCorresponds to variant dbSNP:rs28371704EnsemblClinVar.1
Natural variantiVAR_072766104V → A in allele CYP2D6*88. 1 PublicationCorresponds to variant dbSNP:rs76187628Ensembl.1
Natural variantiVAR_008337107T → I in allele CYP2D6*17; poor debrisquone metabolism. 2 PublicationsCorresponds to variant dbSNP:rs28371706Ensembl.1
Natural variantiVAR_024722120F → I1 PublicationCorresponds to variant dbSNP:rs1135822Ensembl.1
Natural variantiVAR_072767142L → S in allele CYP2D6*89; >90% decrease of monooxygenase activity towards dextromethorphan and bufuralol. 1 PublicationCorresponds to variant dbSNP:rs375135093EnsemblClinVar.1
Natural variantiVAR_072768147K → R in allele CYP2D6*90. 1 PublicationCorresponds to variant dbSNP:rs569229126Ensembl.1
Natural variantiVAR_024723155E → K in allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46. 2 PublicationsCorresponds to variant dbSNP:rs28371710Ensembl.1
Natural variantiVAR_072769161C → S in allele CYP2D6*91. 1 Publication1
Natural variantiVAR_072770164F → L1 Publication1
Natural variantiVAR_008338169G → R in allele CYP2D6*14; poor debrisquone metabolism. 1 PublicationCorresponds to variant dbSNP:rs5030865EnsemblClinVar.1
Natural variantiVAR_008339212G → E in allele CYP2D6*6B and allele CYP2D6*6C. 1 PublicationCorresponds to variant dbSNP:rs5030866Ensembl.1
Natural variantiVAR_072771215E → K >90% decrease of monooxygenase activity towards dextromethorphan and bufuralol. 1 PublicationCorresponds to variant dbSNP:rs567606867Ensembl.1
Natural variantiVAR_072772219F → S1 PublicationCorresponds to variant dbSNP:rs371793722Ensembl.1
Natural variantiVAR_045679231L → P. Corresponds to variant dbSNP:rs17002853EnsemblClinVar.1
Natural variantiVAR_008370237A → S in allele CYP2D6*33. 1 PublicationCorresponds to variant dbSNP:rs28371717EnsemblClinVar.1
Natural variantiVAR_072773249T → P in allele CYP2D6*93; >90% decrease of monooxygenase activity towards dextromethorphan and bufuralol. 1 Publication1
Natural variantiVAR_008347281Missing in allele CYP2D6*9. 1 Publication1
Natural variantiVAR_008340296R → C in allele CYP2D6*2, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; significantly reduced monooxygenase activity toward anandamide; slight decrease of monooxygenase activity towards bufuralol. 6 PublicationsCorresponds to variant dbSNP:rs16947EnsemblClinVar.1
Natural variantiVAR_008371297I → L in allele CYP2D6*24. Corresponds to variant dbSNP:rs949717872Ensembl.1
Natural variantiVAR_045680300A → G. Corresponds to variant dbSNP:rs1058170Ensembl.1
Natural variantiVAR_014633311S → L. Corresponds to variant dbSNP:rs1800754Ensembl.1
Natural variantiVAR_008348324H → P in allele CYP2D6*7; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs5030867EnsemblClinVar.1
Natural variantiVAR_072774327V → M1 Publication1
Natural variantiVAR_059150329R → L. Corresponds to variant dbSNP:rs3915951Ensembl.1
Natural variantiVAR_072775336D → N1 PublicationCorresponds to variant dbSNP:rs745746329Ensembl.1
Natural variantiVAR_072776337D → G in allele CYP2D6*94. 1 PublicationCorresponds to variant dbSNP:rs748712690Ensembl.1
Natural variantiVAR_072777342V → M1 PublicationCorresponds to variant dbSNP:rs750996195Ensembl.1
Natural variantiVAR_008372343R → G in allele CYP2D6*25. Corresponds to variant dbSNP:rs267608295Ensembl.1
Natural variantiVAR_072778344R → Q1 PublicationCorresponds to variant dbSNP:rs76088846Ensembl.1
Natural variantiVAR_045681365R → H. Corresponds to variant dbSNP:rs1058172EnsemblClinVar.1
Natural variantiVAR_008373369I → T in allele CYP2D6*26. 1
Natural variantiVAR_059151373G → S. Corresponds to variant dbSNP:rs61737946EnsemblClinVar.1
Natural variantiVAR_008374410E → K in allele CYP2D6*27. Corresponds to variant dbSNP:rs769157652Ensembl.1
Natural variantiVAR_024724418E → K1 PublicationCorresponds to variant dbSNP:rs28371733Ensembl.1
Natural variantiVAR_072779440R → C >90% decrease of monooxygenase activity towards dextromethorphan and bufuralol. 1 PublicationCorresponds to variant dbSNP:rs777560972Ensembl.1
Natural variantiVAR_072780457F → L in allele CYP2D6*97. 1 Publication1
Natural variantiVAR_072781463H → D in allele CYP2D6*98. 1 Publication1
Natural variantiVAR_024725469P → A1 PublicationCorresponds to variant dbSNP:rs1135833Ensembl.1
Natural variantiVAR_024726478H → Y1 PublicationCorresponds to variant dbSNP:rs28371735Ensembl.1
Natural variantiVAR_008341486S → 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. 6 PublicationsCorresponds to variant dbSNP:rs1135840EnsemblClinVar.1
Natural variantiVAR_072782497R → C1 PublicationCorresponds to variant dbSNP:rs370580423Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_044486118 – 168Missing in isoform 2. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
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 No translation available.
BC066877 mRNA Translation: AAH66877.1
BC075023 mRNA Translation: AAH75023.1
BC075024 mRNA Translation: AAH75024.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33657.1 [P10635-2]
CCDS46721.1 [P10635-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S01199, O4HUD1

NCBI Reference Sequences

More...RefSeqi		NP_000097.3, NM_000106.5 [P10635-1]
NP_001020332.2, NM_001025161.2 [P10635-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000359033; ENSP00000351927; ENSG00000100197 [P10635-2]
ENST00000612990; ENSP00000483677; ENSG00000275211
ENST00000645361; ENSP00000496150; ENSG00000100197 [P10635-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1565

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1565

UCSC genome browser

More...UCSCi		uc003bce.4, human [P10635-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Cytochrome P450 Allele Nomenclature Committee

CYP2D6 alleles

Wikipedia

CYP2D6 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 No translation available.
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB 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[»]
4WNTX-ray2.60A/B34-497[»]
4WNUX-ray2.26A/B/C/D34-497[»]
4WNVX-ray2.35A/B/C/D48-497[»]
4WNWX-ray3.30A/B34-497[»]
4XRYX-ray2.50A/B/C/D34-497[»]
4XRZX-ray2.40A/B/C/D34-497[»]
5TFTX-ray2.71A/B/C/D34-497[»]
5TFUX-ray2.75A/B/C/D34-497[»]
6CSBX-ray2.39A/B/C/D34-497[»]
6CSDX-ray2.39A/B34-497[»]
BMRBiP10635
SMRiP10635
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107940, 4 interactors
STRINGi9606.ENSP00000353820

Chemistry databases

BindingDBiP10635
ChEMBLiCHEMBL289
DrugBankiDB01562, 1-(2-Phenylethyl)-4-phenyl-4-acetoxypiperidine
DB01472, 4-Methoxyamphetamine
DB14010, 5-methoxy-N,N-dimethyltryptamine
DB12001, Abemaciclib
DB05812, Abiraterone
DB01193, Acebutolol
DB00316, Acetaminophen
DB00918, Almotriptan
DB06203, Alogliptin
DB00866, Alprenolol
DB01424, Aminophenazone
DB01118, Amiodarone
DB00321, Amitriptyline
DB00381, Amlodipine
DB00613, Amodiaquine
DB00543, Amoxapine
DB00182, Amphetamine
DB00701, Amprenavir
DB11785, Anisodamine
DB01435, Antipyrine
DB01429, Aprindine
DB01274, Arformoterol
DB01238, Aripiprazole
DB14185, Aripiprazole lauroxil
DB09204, Arotinolol
DB11638, Artenimol
DB06216, Asenapine
DB00637, Astemizole
DB11586, Asunaprevir
DB00335, Atenolol
DB00289, Atomoxetine
DB01076, Atorvastatin
DB00972, Azelastine
DB04957, Azimilide
DB09013, Befunolol
DB06770, Benzyl alcohol
DB01244, Bepridil
DB00195, Betaxolol
DB01295, Bevantolol
DB01128, Bicalutamide
DB04889, Bicifadine
DB00810, Biperiden
DB13975, Black cohosh
DB08807, Bopindolol
DB00188, Bortezomib
DB09128, Brexpiprazole
DB12752, Bucindolol
DB06726, Bufuralol
DB00297, Bupivacaine
DB08808, Bupranolol
DB00921, Buprenorphine
DB01156, Bupropion
DB00490, Buspirone
DB09173, Butyrfentanyl
DB00201, Caffeine
DB09061, Cannabidiol
DB06016, Cariprazine
DB00521, Carteolol
DB01136, Carvedilol
DB00482, Celecoxib
DB04846, Celiprolol
DB00439, Cerivastatin
DB00185, Cevimeline
DB00608, Chloroquine
DB01114, Chlorpheniramine
DB00477, Chlorpromazine
DB00356, Chlorzoxazone
DB01410, Ciclesonide
DB01166, Cilostazol
DB00501, Cimetidine
DB01012, Cinacalcet
DB00568, Cinnarizine
DB00604, Cisapride
DB00215, Citalopram
DB00283, Clemastine
DB04920, Clevidipine
DB14025, Clinafloxacin
DB00349, Clobazam
DB00845, Clofazimine
DB01242, Clomipramine
DB00575, Clonidine
DB13508, Cloranolol
DB00257, Clotrimazole
DB00363, Clozapine
DB09065, Cobicistat
DB00907, Cocaine
DB00318, Codeine
DB11672, Curcumin
DB14635, Curcumin sulfate
DB00924, Cyclobenzaprine
DB00091, Cyclosporine
DB11963, Dacomitinib
DB06292, Dapagliflozin
DB04884, Dapoxetine
DB00496, Darifenacin
DB01264, Darunavir
DB09183, Dasabuvir
DB04840, Debrisoquine
DB00705, Delavirdine
DB06512, Deramciclane
DB01151, Desipramine
DB06700, Desvenlafaxine
DB12161, Deutetrabenazine
DB13679, Dexchlorpheniramine
DB09555, Dexchlorpheniramine maleate
DB01191, Dexfenfluramine
DB00633, Dexmedetomidine
DB01576, Dextroamphetamine
DB00514, Dextromethorphan
DB00647, Dextropropoxyphene
DB11994, Diacerein
DB01551, Dihydrocodeine
DB00343, Diltiazem
DB01093, Dimethyl sulfoxide
DB01075, Diphenhydramine
DB00757, Dolasetron
DB01184, Domperidone
DB00843, Donepezil
DB09167, Dosulepin
DB00590, Doxazosin
DB01142, Doxepin
DB00997, Doxorubicin
DB04855, Dronedarone
DB00476, Duloxetine
DB00625, Efavirenz
DB11979, Elagolix
DB00216, Eletriptan
DB15444, Elexacaftor
DB09039, Eliglustat
DB13874, Enasidenib
DB01228, Encainide
DB06735, Enclomiphene
DB11718, Encorafenib
DB00494, Entacapone
DB13757, Epanolol
DB00751, Epinastine
DB00530, Erlotinib
DB13443, Esatenolol
DB01175, Escitalopram
DB06678, Esmirtazapine
DB00187, Esmolol
DB01466, Ethylmorphine
DB01628, Etoricoxib
DB01590, Everolimus
DB12500, Fedratinib
DB01023, Felodipine
DB00574, Fenfluramine
DB06702, Fesoterodine
DB01195, Flecainide
DB04841, Flunarizine
DB00472, Fluoxetine
DB00623, Fluphenazine
DB01095, Fluvastatin
DB00176, Fluvoxamine
DB00983, Formoterol
DB02703, Fusidic acid
DB00674, Galantamine
DB00317, Gefitinib
DB08909, Glycerol phenylbutyrate
DB01218, Halofantrine
DB00502, Haloperidol
DB00956, Hydrocodone
DB01611, Hydroxychloroquine
DB01005, Hydroxyurea
DB00557, Hydroxyzine
DB09053, Ibrutinib
DB01177, Idarubicin
DB04946, Iloperidone
DB00619, Imatinib
DB00458, Imipramine
DB08952, Indenolol
DB00224, Indinavir
DB06370, Indisulam
DB13293, Ipecac
DB04818, Iproniazid
DB11633, Isavuconazole
DB00951, Isoniazid
DB11757, Istradefylline
DB09570, Ixazomib
DB01026, Ketoconazole
DB00598, Labetalol
DB12212, Landiolol
DB00448, Lansoprazole
DB11732, Lasmiditan
DB09078, Lenvatinib
DB00528, Lercanidipine
DB12070, Letermovir
DB09351, Levobetaxolol
DB01210, Levobunolol
DB08918, Levomilnacipran
DB13139, Levosalbutamol
DB00281, Lidocaine
DB01255, Lisdexamfetamine
DB04948, Lofexidine
DB01206, Lomustine
DB00836, Loperamide
DB01601, Lopinavir
DB00455, Loratadine
DB04871, Lorcaserin
DB09195, Lorpiprazole
DB06708, Lumefantrine
DB04829, Lysergic acid diethylamide
DB09238, Manidipine
DB00934, Maprotiline
DB00737, Meclizine
DB14009, Medical Cannabis
DB09224, Melperone
DB00454, Meperidine
DB00532, Mephenytoin
DB13530, Mepindolol
DB06691, Mepyramine
DB01071, Mequitazine
DB00933, Mesoridazine
DB01577, Metamfetamine
DB00333, Methadone
DB00763, Methimazole
DB01403, Methotrimeprazine
DB01028, Methoxyflurane
DB09241, Methylene blue
DB01214, Metipranolol
DB01233, Metoclopramide
DB00264, Metoprolol
DB00379, Mexiletine
DB06148, Mianserin
DB01388, Mibefradil
DB01110, Miconazole
DB00211, Midodrine
DB01454, Midomafetamine
DB06595, Midostaurin
DB00834, Mifepristone
DB00805, Minaprine
DB08893, Mirabegron
DB00370, Mirtazapine
DB12523, Mizolastine
DB01171, Moclobemide
DB14011, Nabiximols
DB09049, Naloxegol
DB00731, Nateglinide
DB04861, Nebivolol
DB01149, Nefazodone
DB00220, Nelfinavir
DB09048, Netupitant
DB00238, Nevirapine
DB00627, Niacin
DB00622, Nicardipine
DB00699, Nicergoline
DB02701, Nicotinamide
DB00184, Nicotine
DB01115, Nifedipine
DB04868, Nilotinib
DB00540, Nortriptyline
DB00334, Olanzapine
DB00338, Omeprazole
DB00904, Ondansetron
DB11130, Opium
DB04911, Oritavancin
DB01173, Orphenadrine
DB11837, Osilodrostat
DB04938, Ospemifene
DB01096, Oxamniquine
DB01580, Oxprenolol
DB01062, Oxybutynin
DB00497, Oxycodone
DB06412, Oxymetholone
DB01192, Oxymorphone
DB01267, Paliperidone
DB00377, Palonosetron
DB06603, Panobinostat
DB00715, Paroxetine
DB06589, Pazopanib
DB00022, Peginterferon alfa-2b
DB01359, Penbutolol
DB00738, Pentamidine
DB01074, Perhexiline
DB08922, Perospirone
DB00850, Perphenazine
DB03783, Phenacetin
DB00780, Phenelzine
DB00914, Phenformin
DB06819, Phenylbutyric acid
DB00252, Phenytoin
DB01100, Pimozide
DB00960, Pindolol
DB00592, Piperazine
DB01621, Pipotiazine
DB11642, Pitolisant
DB08901, Ponatinib
DB01297, Practolol
DB01087, Primaquine
DB01035, Procainamide
DB00433, Prochlorperazine
DB00396, Progesterone
DB01131, Proguanil
DB00420, Promazine
DB01069, Promethazine
DB09288, Propacetamol
DB01182, Propafenone
DB00571, Propranolol
DB01224, Quetiapine
DB00908, Quinidine
DB00468, Quinine
DB01129, Rabeprazole
DB00863, Ranitidine
DB00243, Ranolazine
DB00234, Reboxetine
DB14761, Remdesivir
DB00409, Remoxipride
DB06506, Repinotan
DB11855, Revefenacin
DB13174, Rhein
DB08864, Rilpivirine
DB14840, Ripretinib
DB00734, Risperidone
DB12693, Ritanserin
DB00503, Ritonavir
DB09291, Rolapitant
DB00412, Rosiglitazone
DB05271, Rotigotine
DB12332, Rucaparib
DB11614, Rupatadine
DB06654, Safinamide
DB01232, Saquinavir
DB01037, Selegiline
DB06144, Sertindole
DB01104, Sertraline
DB00203, Sildenafil
DB00641, Simvastatin
DB01591, Solifenacin
DB00398, Sorafenib
DB00489, Sotalol
DB06727, Sparteine
DB01323, St. John's Wort
DB09118, Stiripentol
DB06820, Sulconazole
DB00259, Sulfanilamide
DB06729, Sulfaphenazole
DB06608, Tafenoquine
DB11770, Talinolol
DB00675, Tamoxifen
DB00706, Tamsulosin
DB06204, Tapentadol
DB01079, Tegaserod
DB06287, Temsirolimus
DB00857, Terbinafine
DB00342, Terfenadine
DB13775, Tertatolol
DB04905, Tesmilifene
DB04844, Tetrabenazine
DB00277, Theophylline
DB00679, Thioridazine
DB01623, Thiothixene
DB00208, Ticlopidine
DB00373, Timolol
DB01409, Tiotropium
DB00932, Tipranavir
DB01036, Tolterodine
DB05109, Trabectedin
DB00193, Tramadol
DB00752, Tranylcypromine
DB00656, Trazodone
DB12245, Triclabendazole
DB00726, Trimipramine
DB00792, Tripelennamine
DB00209, Trospium
DB15328, Ubrogepant
DB09076, Umeclidinium
DB13609, Umifenovir
DB15091, Upadacitinib
DB11915, Valbenazine
DB08881, Vemurafenib
DB00285, Venlafaxine
DB00661, Verapamil
DB06217, Vernakalant
DB06684, Vilazodone
DB00570, Vinblastine
DB00361, Vinorelbine
DB09068, Vortioxetine
DB01392, Yohimbine
DB00425, Zolpidem
DB01624, Zuclopenthixol
DrugCentraliP10635
GuidetoPHARMACOLOGYi1329
SwissLipidsiSLP:000001204

PTM databases

iPTMnetiP10635
PhosphoSitePlusiP10635

Genetic variation databases

BioMutaiCYP2D6
DMDMi84028191

Proteomic databases

jPOSTiP10635
MassIVEiP10635
PaxDbiP10635
PeptideAtlasiP10635
PRIDEiP10635
ProteomicsDBi52623 [P10635-1]
66778

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		13178, 597 antibodies

The DNASU plasmid repository

More...DNASUi		1565

Genome annotation databases

EnsembliENST00000359033; ENSP00000351927; ENSG00000100197 [P10635-2]
ENST00000612990; ENSP00000483677; ENSG00000275211
ENST00000645361; ENSP00000496150; ENSG00000100197 [P10635-1]
GeneIDi1565
KEGGihsa:1565
UCSCiuc003bce.4, human [P10635-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1565
DisGeNETi1565

GeneCards: human genes, protein and diseases

More...GeneCardsi		CYP2D6
HGNCiHGNC:2625, CYP2D6
HPAiENSG00000100197, Tissue enriched (liver)
MalaCardsiCYP2D6
MIMi124030, gene
608902, phenotype
neXtProtiNX_P10635
OpenTargetsiENSG00000100197
Orphaneti413667, Antidepressant or antipsychotic toxicity or dose selection
240867, Codeine toxicity
240947, Resistance to tamoxifene
PharmGKBiPA128
VEuPathDBiHostDB:ENSG00000100197.20

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0156, Eukaryota
GeneTreeiENSGT00940000153331
HOGENOMiCLU_001570_22_3_1
InParanoidiP10635
OMAiGGIWPVD
PhylomeDBiP10635
TreeFamiTF352043

Enzyme and pathway databases

UniPathwayiUPA00199
UPA00296
UPA00912
BRENDAi1.14.14.1, 2681
1.14.99.38, 2681
PathwayCommonsiP10635
ReactomeiR-HSA-211935, Fatty acids
R-HSA-211958, Miscellaneous substrates
R-HSA-211981, Xenobiotics
R-HSA-211999, CYP2E1 reactions
R-HSA-9027307, Biosynthesis of maresin-like SPMs
SABIO-RKiP10635

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1565, 6 hits in 871 CRISPR screens
EvolutionaryTraceiP10635

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CYP2D6

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1565
PharosiP10635, Tclin

Protein Ontology

More...PROi		PR:P10635
RNActiP10635, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100197, Expressed in right lobe of liver and 111 other tissues
ExpressionAtlasiP10635, baseline and differential
GenevisibleiP10635, HS

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128, Cyt_P450
IPR017972, Cyt_P450_CS
IPR002401, Cyt_P450_E_grp-I
IPR008069, Cyt_P450_E_grp-I_CYP2D-like
IPR036396, Cyt_P450_sf
PfamiView protein in Pfam
PF00067, p450, 1 hit
PRINTSiPR00463, EP450I
PR01686, EP450ICYP2D
PR00385, P450
SUPFAMiSSF48264, SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086, CYTOCHROME_P450, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCP2D6_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P10635
Secondary accession number(s): Q16752
, Q2XND6, Q2XND7, Q2XNE0, Q6B012, Q6NXU8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: December 20, 2005
Last modified: February 10, 2021
This is version 220 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  7. Human entries with genetic variants
    List of human entries with genetic variants
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