CYP2D7 (cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene))

Gene

• Entrez ID: 1564
• Gene name: Cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene)
• Gene symbol: CYP2D7
• Synonyms (NCBI Gene): CYP2D, CYP2D6, CYP2D7AP, CYP2D7P, CYP2D7P1, CYP2D@, P450C2D, P450DB1, RNA40057
• Chromosome: 22
• Chromosome location: 22q13.2
• Summary: This gene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is a segregating ps

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	15051713
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	18838503
GO:0005739	Component	Mitochondrion	IEA
GO:0006805	Process	Xenobiotic metabolic process	IBA
GO:0006805	Process	Xenobiotic metabolic process	IDA	18838503
GO:0006805	Process	Xenobiotic metabolic process	IDA	15051713
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016712	Function	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	IBA
GO:0016712	Function	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	IEA
GO:0019369	Process	Arachidonate metabolic process	IBA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0042178	Process	Xenobiotic catabolic process	IDA	18838503
GO:0042178	Process	Xenobiotic catabolic process	IDA	15051713
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0070330	Function	Aromatase activity	IDA	18838503
GO:0070330	Function	Aromatase activity	IDA	15051713

Other IDs

• MIM: HGNC
• HGNC: 2624
• e!Ensembl: N/A

Protein

• UniProt ID: A0A087X1C5
• Protein name: Cytochrome P450 2D7 (EC 1.14.14.1)
• Protein function: May be responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It may be involved in the metabolism of codeine to morphine (PubMed:15051713). However, another study could not confirm it (PubMed:18838503). {ECO:
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	34 → 332	Cytochrome P450	Domain
  PF00067	p450	345 → 512	Cytochrome P450	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain cortex (at protein level). {ECO:0000269|PubMed:15051713}.
• Sequence:

  MGLEALVPLAMIVAIFLLLVDLMHRHQRWAARYPPGPLPLPGLGNLLHVDFQNTPYCFDQ
  LRRRFGDVFSLQLAWTPVVVLNGLAAVREAMVTRGEDTADRPPAPIYQVLGFGPRSQGVI
  LSRYGPAWREQRRFSVSTLRNLGLGKKSLEQWVTEEAACLCAAFADQAGRPFRPNGLLDK
  AVSNVIASLTCGRRFEYDDPRFLRLLDLAQEGLKEESGFLREVLNAVPVLPHIPALAGKV
  LRFQKAFLTQLDELLTEHRMTWDPAQPPRDLTEAFLAKKEKAKGSPESSFNDENLRIVVG
  NLFLAGMVTTSTTLAWGLLLMILHLDVQRGRRVSPGCPIVGTHVCPVRVQQEIDDVIGQV
  RRPEMGDQAHMPCTTAVIHEVQHFGDIVPLGVTHMTSRDIEVQGFRIPKGTTLITNLSSV
  LKDEAVWKKPFRFHPEHFLDAQGHFVKPEAFLPFSAGRRACLGEPLARMELFLFFTSLLQ
  HFSFSVAAGQPRPSHSRVVSFLVTPSPYELCAVPR

• Sequence length: 515

Pathways

KEGG:

Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Endocrine resistance
Serotonergic synapse

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agranulocytosis	Agranulocytosis	BEFREE	11147929		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta, Type IB	Amelogenesis Imperfecta	BEFREE	15000871		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	12621383		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	10540193, 2466049		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21527579		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	7737047, 9511176		★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	BEFREE	28454738		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30195732		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30502451		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35721735	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30502451		★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	10850406		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24449363		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	10534269, 9633694		★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	31609742	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	9205060		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24449363		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21527579		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	7737047, 9511176		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15588859		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30195732		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10956388, 8631002		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10534269		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30786957		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30138581		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10210913, 18327668, 27216438, 9633694		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations