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POR (cytochrome p450 oxidoreductase)
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5447
Gene nameGene Name - the full gene name approved by the HGNC.
Cytochrome p450 oxidoreductase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
POR
SynonymsGene synonyms aliases
CPR, CYPOR, P450R
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.23
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs17853284 C>A,T Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs28931606 T>A Pathogenic Missense variant, coding sequence variant
rs28931607 G>A Pathogenic Missense variant, coding sequence variant
rs28931608 G>A,C Pathogenic, pathogenic-likely-pathogenic Missense variant, coding sequence variant
rs72552771 T>A,G Pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT017903 hsa-miR-335-5p Microarray 18185580
MIRT049130 hsa-miR-92a-3p CLASH 23622248
MIRT039293 hsa-miR-671-5p CLASH 23622248
MIRT438091 hsa-miR-214-3p Luciferase reporter assay 23905773
MIRT438091 hsa-miR-214-3p Luciferase reporter assay 23905773
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
EGR1 Unknown 10864447
SMAD3 Unknown 21393444
SMAD4 Unknown 21393444
SP1 Activation 8660656
SP1 Repression 8660656
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0003958 Function NADPH-hemoprotein reductase activity IBA 21873635
GO:0003958 Function NADPH-hemoprotein reductase activity IDA 19448135
GO:0003958 Function NADPH-hemoprotein reductase activity TAS 2513880, 10048323
GO:0005515 Function Protein binding IPI 21081644
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P16435
Protein name NADPH--cytochrome P450 reductase (CPR) (P450R) (EC 1.6.2.4)
Protein function This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5.
PDB 1B1C , 3FJO , 3QE2 , 3QFC , 3QFR , 3QFS , 3QFT , 5EMN , 5FA6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00258 Flavodoxin_1
82 → 219
Flavodoxin
 Domain
PF00667 FAD_binding_1
274 → 493
FAD binding domain
 Domain
PF00175 NAD_binding_1
530 → 641
Oxidoreductase NAD-binding domain
Domain
Sequence
Sequence length 677
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Cytochrome P450 - arranged by substrate type
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Antley-bixler syndrome with genital anomalies and disordered steroidogenesis ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS rs28931606, rs121912974, rs786205099, rs28931608, rs786205875, rs121912975, rs786205876, rs786205878, rs121912976, rs373613946 15483095, 14758361, 12116245, 16470797, 15264278
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Congenital adrenal hyperplasia Congenital adrenal hyperplasia, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098 18559916
Coronal craniosynostosis Coronal craniosynostosis rs1566992093
Unknown
Disease name Disease term dbSNP ID References
Acne Acne
Adrenogenital syndrome Adrenogenital Syndrome
Ambiguous genitalia Ambiguous Genitalia, Ambiguous genitalia, female rs782562963
Antley-bixler syndrome Antley-Bixler Syndrome with Disordered Steroidogenesis, Antley-Bixler Syndrome Phenotype, Antley-Bixler Syndrome, Autosomal Dominant 20940534, 15483095, 14758361, 22162478, 20124576, 15220035, 28841001, 20732302, 16906539, 21741353, 16470797, 19837910, 27496950, 27496950, 16906539, 14758361, 15220035, 14758361, 16906539, 27496950, 15220035

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