CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene))

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1565
Gene name Cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)
Gene symbol CYP2D6
Synonyms (NCBI Gene)
CPD6CYP2DCYP2D7APCYP2D7BPCYP2D7P2CYP2D8P2CYP2DL1CYPIID6P450-DB1P450C2DP450DB1
Chromosome 22
Chromosome location 22q13.2
Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein local
SNPs SNP information provided by dbSNP.
55
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs16947 G>A,T Likely-benign, benign, drug-response Coding sequence variant, missense variant
rs1058172 C>G,T Drug-response Coding sequence variant, missense variant
rs1135832 C>A,G,T Drug-response Coding sequence variant, synonymous variant
rs1135838 A>G Drug-response Coding sequence variant, missense variant
rs1135840 C>G Likely-benign, benign, other, drug-response Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT029578 hsa-miR-26b-5p Microarray 19088304
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
HNF4A Activation 11752221
HNF4G Activation 11752221
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
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GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IDA 15327587, 19651758
GO:0004497 Function Monooxygenase activity IEA
GO:0004497 Function Monooxygenase activity TAS
GO:0005506 Function Iron ion binding IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
124030 2625 ENSG00000100197
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10635
Protein name Cytochrome P450 2D6 (EC 1.14.14.-) (CYPIID6) (Cholesterol 25-hydroxylase) (Cytochrome P450-DB1) (Debrisoquine 4-hydroxylase)
Protein function 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
PDB 2F9Q , 3QM4 , 3TBG , 3TDA , 4WNT , 4WNU , 4WNV , 4WNW , 4XRY , 4XRZ , 5TFT , 5TFU , 6CSB , 6CSD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 34 → 494 Cytochrome P450 Domain
Sequence
Sequence length 497
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Endocrine resistance
Serotonergic synapse 		  Fatty acids
Miscellaneous substrates
Xenobiotics
CYP2E1 reactions
Biosynthesis of maresin-like SPMs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
298
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (19)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia drug response; Likely benign; other rs3892097 RCV005887540
Cholangiocarcinoma Likely benign rs79292917 RCV005929689
Colorectal cancer Likely benign rs79292917 RCV005929688
Debrisoquine, poor metabolism of drug response; Likely benign; other; Benign rs3892097, rs5030655, rs5030865, rs1065852, rs35742686 RCV000018385
RCV000018387
RCV000018388
RCV000018389
RCV000018390
Show/Hide Text Mining Associations (123)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 37864393
Adenomatous Polyposis Coli Associate 11523314
Akathisia Drug Induced Associate 24074484, 38377518
Alcoholic Intoxication Associate 15625333
Alzheimer Disease Associate 19738170, 26603528, 31064198, 34120801
Anemia Aplastic Associate 10050706
Anemia Sickle Cell Associate 19357842, 23619115, 27335380
Anxiety Disorders Associate 37686266, 38493365
Arrhythmias Cardiac Associate 38138160
Arthritis Associate 22180068