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

2014-11-01  

Identity

HGNC
CYP2D7
LOCATION
22q13.2
LOCUSID
1564
ALIAS
CYP2D,CYP2D6,CYP2D7AP,CYP2D7P,CYP2D7P1,CYP2D@,P450C2D,P450DB1,RNA40057

Other Information

Locus ID:

NCBI: 1564
HGNC: 2624
Ensembl: ENSG00000205702

Variants:

dbSNP: 1564
ClinVar: 1564
TCGA: ENSG00000205702
COSMIC: CYP2D7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205702ENST00000435101F5H6E7
ENSG00000205702ENST00000612115A0A087X1C5
ENSG00000205702ENST00000614967A0A087WXN8

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA449273dextromethorphanChemicalVariantAnnotationnot associatedPK30040020

References

Pubmed IDYearTitleCitations
121717602002Polymorphism of metabolic genes and susceptibility to occupational chronic manganism.7
174946442007Frequency of the frame-shifting CYP2D7 138delT polymorphism in a large, ethnically diverse sample population.2
300400202018Functional characterization of CYP2D7 gene variants.0

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62253/cyp2d7-(cytochrome-p450-family-2-subfamily-d-member-7-(gene-pseudogene))