AutismKB 2.0

Annotation Details for CYP2D6


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Basic Information Top
Gene Symbol:CYP2D6 ( CPD6,CYP2D,CYP2D7AP,CYP2D7BP,CYP2D7P2,CYP2D8P2,CYP2DL1,CYPIID6,MGC120389,MGC120390,P450-DB1,P450C2D,P450DB1 )
Gene Full Name: cytochrome P450, family 2, subfamily D, polypeptide 6
Band: 22q13.2
Quick LinksEntrez ID:1565; OMIM: 124030; Uniprot ID:Q5Y7H2_HUMAN; ENSEMBL ID: ENSG00000100197; HGNC ID: 2625
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005739IDA-mitochondrion19438707
GO:0005783TAS-endoplasmic reticulum19438707
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0031090IEA-organelle membrane-
GO ID Evidence Qualifier GO_term References
GO:0004497IDA-monooxygenase activity15327587
GO:0005506IEA-iron ion binding-
GO:0008144IDA-drug binding19448135
GO:0016491IDA-oxidoreductase activity15039299
GO:0016712TAS-oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen-
GO:0019825TAS-oxygen binding-
GO:0020037IDA-heme binding16352597
GO:0070330IEA-aromatase activity-
GO ID Evidence Qualifier GO_term References
GO:0006805TAS-xenobiotic metabolic process19438707
GO:0008202IMP-steroid metabolic process18356043
GO:0009804IDA-coumarin metabolic process19438707
GO:0009820IDA-alkaloid metabolic process19651758
GO:0009822IDA-alkaloid catabolic process15039299
GO:0016098IDA-monoterpenoid metabolic process16401082
GO:0017144IDA-drug metabolic process19219744
GO:0017144IMP-drug metabolic process18356043
GO:0019369IBA-arachidonic acid metabolic process-
GO:0033076IDA-isoquinoline alkaloid metabolic process19448135
GO:0042737IDA-drug catabolic process15039299
GO:0046483IDA-heterocycle metabolic process15327587
GO:0051100IDA-negative regulation of binding19448135
GO:0055114IDA-oxidation-reduction process16401082
GO:0070989IDA-oxidative demethylation15039299
GO:0090350IDA-negative regulation of cellular organofluorine metabolic process19448135
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
CYP2D6CYP2D6*1, CYP2D6*2x2, CYP2D6*3, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6_VNTR Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
CYP2D6rs3892097 Gene overview in PDGene
Gene Symbol Poly Names Gene overview in SZGene
CYP2D6CYP2D6*4 (B), CYP2D6_1067T/G, CYP2D6_1488A/C, CYP2D6_1513C/T, CYP2D6_1863-1864ins, CYP2D6_V136M, CYP2D6_V338M, rs1058164, rs1065852, rs1080985, rs1081003, rs1135840, rs16947, rs1800716, rs28371706, rs28371710, rs28371725, rs3892097 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1929474
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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