Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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 name Gene Name - the full gene name approved by the HGNC.	Cytochrome p450 oxidoreductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POR
Synonyms (NCBI Gene) Gene synonyms aliases	CPR, CYPOR, P450R
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q11.23
Summary Summary 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

Show/Hide all(19)

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
rs72552772	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs72557906	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs121912974	G>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121912975	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912976	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs145782750	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs373613946	C>A,G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs781805159	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786205099	G>A	Pathogenic	Splice donor variant
rs786205875	->C	Pathogenic	Coding sequence variant, frameshift variant
rs786205876	TAAAGCAAGACCGAGAGCACCTGT>-	Pathogenic	Coding sequence variant, inframe indel
rs786205878	->TACGTGGACAAGC	Pathogenic	Coding sequence variant, frameshift variant
rs936203749	T>C	Likely-pathogenic	Splice donor variant
rs1563435458	->CCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGT	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(29)

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
MIRT438091	hsa-miR-214-3p	Luciferase reporter assay	23905773
MIRT438091	hsa-miR-214-3p	Luciferase reporter assay	23905773
MIRT1250267	hsa-miR-154	CLIP-seq
MIRT1250268	hsa-miR-4257	CLIP-seq
MIRT1250269	hsa-miR-4282	CLIP-seq
MIRT1250270	hsa-miR-4640-5p	CLIP-seq
MIRT1250271	hsa-miR-4699-3p	CLIP-seq
MIRT1250272	hsa-miR-4726-5p	CLIP-seq
MIRT1250273	hsa-miR-944	CLIP-seq
MIRT2073909	hsa-miR-4294	CLIP-seq
MIRT2073910	hsa-miR-924	CLIP-seq
MIRT2300747	hsa-miR-296-5p	CLIP-seq
MIRT2300748	hsa-miR-3184	CLIP-seq
MIRT2300749	hsa-miR-329	CLIP-seq
MIRT2300750	hsa-miR-362-3p	CLIP-seq
MIRT2300751	hsa-miR-3922-5p	CLIP-seq
MIRT2300752	hsa-miR-423-5p	CLIP-seq
MIRT2300753	hsa-miR-4267	CLIP-seq
MIRT2300754	hsa-miR-4480	CLIP-seq
MIRT2300755	hsa-miR-4492	CLIP-seq
MIRT2300756	hsa-miR-4498	CLIP-seq
MIRT2300757	hsa-miR-4505	CLIP-seq
MIRT2300758	hsa-miR-4753-5p	CLIP-seq
MIRT2300759	hsa-miR-762	CLIP-seq

Transcription factors

Show/Hide all(7)

Transcription factor	Regulation	Reference
EGR1	Unknown	10864447
SMAD3	Unknown	21393444
SMAD4	Unknown	21393444
SP1	Activation	8660656
SP1	Repression	8660656
SP1	Unknown	10864447;21900384
THRB	Unknown	21393444

Show/Hide all(18)

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
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0009725	Process	Response to hormone	IBA	21873635
GO:0010181	Function	FMN binding	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IBA	21873635
GO:0016709	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA	21873635
GO:0032770	Process	Positive regulation of monooxygenase activity	IDA	19448135
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	9618440
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA	21873635
GO:0050661	Function	NADP binding	IEA
GO:0090346	Process	Cellular organofluorine metabolic process	IDA	19448135

MIM	HGNC	e!Ensembl
124015	9208	ENSG00000127948

Protein

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

MGDSHVDTSSTVSEAVAEEVSLFSMTDMILFSLIVGLLTYWFLFRKKKEEVPEFTKIQTL
TSSVRESSFVEKMKKTGRNIIVFYGSQTGTAEEFANRLSKDAHRYGMRGMSADPEEYDLA
DLSSLPEIDNALVVFCMATYGEGDPTDNAQDFYDWLQETDVDLSGVKFAVFGLGNKTYEH
FNAMGKYVDKRLEQLGAQRIFELGLGDDDGNLEEDFITWREQFWPAVCEHFGVEATGEES
SIRQYELVVHTDIDAAKVYMGEMGRLKSYENQKPPFDAKNPFLAAVTTNRKLNQGTERHL
MHLELDISDSKIRYESGDHVAVYPANDSALVNQLGKILGADLDVVMSLNNLDEESNKKHP
FPCPTSYRTALTYYLDITNPPRTNVLYELAQYASEPSEQELLRKMASSSGEGKELYLSWV
VEARRHILAILQDCPSLRPPIDHLCELLPRLQARYYSIASSSKVHPNSVHICAVVVEYET
KAGRINKGVATNWLRAKEPAGENGGRALVPMFVRKSQFRLPFKATTPVIMVGPGTGVAPF
IGFIQERAWLRQQGKEVGETLLYYGCRRSDEDYLYREELAQFHRDGALTQLNVAFSREQS
HKVYVQHLLKQDREHLWKLIEGGAHIYVCGDARNMARDVQNTFYDIVAELGAMEHAQAVD
YIKKLMTKGRYSLDVWS

Sequence length

677

Interactions

View interactions

	Reactome
			Cytochrome P450 - arranged by substrate type

Show/Hide Causal Diseases (14)

Disease term	Disease name	dbSNP ID	References
Causal
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 View all (25 more)
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 View all (55 more)	18559916
Coronal craniosynostosis	Coronal craniosynostosis	rs1566992093
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypertension	Hypertensive disease	rs13306026
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Ambiguous genitalia	Ambiguous Genitalia, Ambiguous genitalia, female	ClinVar
Metabolic Syndrome	Metabolic Syndrome	GWAS
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (44)

Disease Name	Relationship Type	References
Associations from Text Mining
17 20 Lyase Deficiency Isolated	Associate	18559916
Adenocarcinoma of Lung	Associate	37180584
Adrenal Hyperplasia Congenital	Associate	19884324, 21190981, 23365120, 27376429, 32060549, 32994263, 33666875, 34823514, 36518257, 38136599
Adrenal Insufficiency	Associate	32994263
Antley Bixler Syndrome Phenotype	Associate	15793702, 16998238, 18455494, 18559916, 19884324, 20124576, 20410220, 21070833, 21190981, 23365120, 23878291, 26670660, 27376429, 27496950, 29069987 View all (8 more)
Antley Bixler Syndrome Phenotype	Inhibit	29069987
Apraxia Ideomotor	Associate	33666875
Aromatase deficiency	Associate	32060549
Carcinogenesis	Associate	29323757
Carcinoma Hepatocellular	Associate	35164791
Colorectal Neoplasms	Associate	26108676
Congenital Abnormalities	Associate	36518257
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Associate	19884324, 33666875
Disorder of Sex Development 46 XY	Associate	20410220
Disorders of Sex Development	Associate	15793702, 27376429, 27496950, 32994263
Drug Related Side Effects and Adverse Reactions	Associate	33105798
Embryo Loss	Associate	15793702
Fibrosis	Associate	29062063
Heart defects limb shortening	Associate	27496950, 32994263
Hepatoblastoma	Associate	31561354
Hypertension	Associate	32994263
Hyperuricemia	Stimulate	31534089
Hypogonadism	Associate	21190981
Hypospadias	Associate	23878291
Hypoxia	Associate	18270456, 24196959
Immunologic Deficiency Syndromes	Associate	32060549
Infertility	Associate	36518257
Leukemia Myeloid Acute	Associate	24642534
Metabolic Diseases	Associate	38136599
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	16998238
Musculoskeletal Diseases	Associate	27496950
Neoplasms	Associate	15280921, 24196959, 29323757, 35164791, 36941558
Non Muscle Invasive Bladder Neoplasms	Associate	29323757
Ovarian Cysts	Associate	21190981
Ovarian Neoplasms	Associate	36941558
Peripheral Nervous System Diseases	Associate	37126018
Prader Willi Syndrome	Associate	33666875
Precancerous Conditions	Associate	29323757
Prostatic Neoplasms	Associate	28069826
Sex Chromosome Disorders of Sex Development	Associate	21190981
Taste Disorders	Associate	33666875
Urogenital Abnormalities	Associate	21070833
Williams Syndrome	Associate	32077592
X Linked Combined Immunodeficiency Diseases	Associate	18559916

POR (cytochrome p450 oxidoreductase)