POR (cytochrome p450 oxidoreductase)

2003-08-01  

Identity

HGNC
LOCATION
7q11.23
LOCUSID
ALIAS
CPR,CYPOR,P450R
FUSION GENES

Other Information

Locus ID:

NCBI: 5447
MIM: 124015
HGNC: 9208
Ensembl: ENSG00000127948

Variants:

dbSNP: 5447
ClinVar: 5447
TCGA: ENSG00000127948
COSMIC: POR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127948ENST00000394893P16435
ENSG00000127948ENST00000412064P16435
ENSG00000127948ENST00000412521P16435
ENSG00000127948ENST00000414186P16435
ENSG00000127948ENST00000418341P16435
ENSG00000127948ENST00000421059C9JQ78
ENSG00000127948ENST00000426184C9JU80
ENSG00000127948ENST00000432753P16435
ENSG00000127948ENST00000439269E7EMD0
ENSG00000127948ENST00000439297C9JDE2
ENSG00000127948ENST00000439963P16435
ENSG00000127948ENST00000447222H0Y4R2
ENSG00000127948ENST00000448410E7EWU0
ENSG00000127948ENST00000449920P16435
ENSG00000127948ENST00000453773P16435
ENSG00000127948ENST00000454934P16435
ENSG00000127948ENST00000461988P16435

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA151958383Gastrointestinal Stromal TumorsDiseaseClinicalAnnotationassociatedPD28117434
PA162372840sunitinibChemicalClinicalAnnotationassociatedPD28117434
PA165817016Kidney TransplantationDiseaseClinicalAnnotationassociatedPKPD21770725, 23097010, 23974086, 24061445, 24113216, 24658827, 24739669, 24921414, 25271728, 25322286, 26227094, 26829596, 28094348, 29135906, 29399716, 29878980, 30323313
PA166114942familial hypercholesterolemiaDiseaseClinicalAnnotationassociatedPD25521355
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD25521355
PA449167cyclosporineChemicalClinicalAnnotationassociatedPK24061445, 24658827, 29135906
PA450496midazolamChemicalClinicalAnnotationassociatedPK19801957, 23324807
PA450626nicotineChemicalClinicalAnnotationassociatedPK
PA451365sirolimusChemicalClinicalAnnotationassociatedPK23974086
PA451578tacrolimusChemicalClinicalAnnotationassociatedPKPD21770725, 23097010, 24061445, 24113216, 24739669, 24921414, 25271728, 25322286, 26227094, 26829596, 28094348, 29399716, 29878980, 30323313
PA451906warfarinChemicalClinicalAnnotation, VariantAnnotationambiguousPD27488389
PA451954zidovudineChemicalPathwayassociated22960662

References

Pubmed IDYearTitleCitations
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
152200352004Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.66
182307292008Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations.52
193745162009Pharmacogenomics of human liver cytochrome P450 oxidoreductase: multifactorial analysis and impact on microsomal drug oxidation.46
198582152009Domain motion in cytochrome P450 reductase: conformational equilibria revealed by NMR and small-angle x-ray scattering.46
233537022013NADPH P450 oxidoreductase: structure, function, and pathology of diseases.46
175953152007Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase.38
185510372008Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19.33
182167182008Genetic polymorphisms in cytochrome P450 oxidoreductase influence microsomal P450-catalyzed drug metabolism.32

Citation

Dessen P

POR (cytochrome p450 oxidoreductase)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/41787/por