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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5447
Gene name	Cytochrome p450 oxidoreductase
Gene symbol	POR
Synonyms (NCBI Gene)	CPRCYPORP450R
Chromosome	7
Chromosome location	7q11.23
Summary	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

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 (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003958	Function	NADPH-hemoprotein reductase activity	IBA
GO:0003958	Function	NADPH-hemoprotein reductase activity	IDA	2513880, 10048323, 19448135
GO:0003958	Function	NADPH-hemoprotein reductase activity	IEA
GO:0003958	Function	NADPH-hemoprotein reductase activity	TAS
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	IEA
GO:0005515	Function	Protein binding	IPI	21081644, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IBA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006809	Process	Nitric oxide biosynthetic process	IBA
GO:0007584	Process	Response to nutrient	IEA
GO:0008047	Function	Enzyme activator activity	IDA	19448135
GO:0008941	Function	Nitric oxide dioxygenase NAD(P)H activity	IEA
GO:0009055	Function	Electron transfer activity	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009437	Process	Carnitine metabolic process	IEA
GO:0009725	Process	Response to hormone	IBA
GO:0009812	Process	Flavonoid metabolic process	IEA
GO:0010181	Function	FMN binding	IBA
GO:0010181	Function	FMN binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019395	Process	Fatty acid oxidation	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0022900	Process	Electron transport chain	IDA	2513880, 10048323
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	9618440
GO:0043602	Process	Nitrate catabolic process	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0046210	Process	Nitric oxide catabolic process	IEA
GO:0047726	Function	Iron-cytochrome-c reductase activity	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0050661	Function	NADP binding	IEA
GO:0061913	Process	Positive regulation of growth plate cartilage chondrocyte proliferation	IEA
GO:0070988	Process	Demethylation	IEA
GO:0071371	Process	Cellular response to gonadotropin stimulus	IEA
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IEA
GO:0071375	Process	Cellular response to peptide hormone stimulus	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0090031	Process	Positive regulation of steroid hormone biosynthetic process	IEA
GO:0090346	Process	Organofluorine metabolic process	IDA	19448135

MIM	HGNC	e!Ensembl
124015	9208	ENSG00000127948

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

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)

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	Likely pathogenic; Pathogenic	rs72557954, rs782261248, rs781946801, rs782343026, rs2116630442, rs74900634, rs1789094697, rs373053855, rs1352009961, rs2535263403, rs201786397, rs28931606, rs121912974, rs786205099, rs28931608 View all (8 more)	RCV005005267 RCV003136154 RCV005032002 RCV002503557 RCV002227920 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	Likely pathogenic; Pathogenic	rs72557954, rs782343026	RCV005396965 RCV002503557	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Pathogenic	rs121912974	RCV005887545	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital adrenal hyperplasia	Likely pathogenic; Pathogenic	rs72557954, rs781946801, rs74900634, rs782534601, rs28931607, rs121912976, rs2545335404, rs782336856, rs781914230	RCV002469408 RCV003120777 RCV002308514 RCV003155862 RCV001553652 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Pathogenic; Likely pathogenic	rs1181572912, rs72557954, rs782261248, rs781946801, rs782395275, rs1563433095, rs782343026, rs782168868, rs74900634, rs782696006, rs1789094697, rs2535413569, rs2535412257, rs2535382134, rs2535365951 View all (52 more)	RCV003632525 RCV005005267 RCV002541209 RCV001941870 RCV001939497 View all (66 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Differences in sex development	Pathogenic; Likely pathogenic	rs121912974, rs28931607	RCV005865186 RCV005865187	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fine-Lubinsky syndrome	Likely pathogenic	rs782104882	RCV003326029	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POR-related disorder	Pathogenic; Likely pathogenic	rs1554558791, rs121912974, rs121912976, rs377017180	RCV002245301 RCV002243651 RCV004737158 RCV004542615	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs121912974	RCV005887546	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (37)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
46,XY disorder of sex development	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aganglionic megacolon	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ambiguous genitalia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMENORRHEA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME PHENOTYPE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME WITH DISORDERED STEROIDOGENESIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALY AND DISORDER OF STEROIDOGENESIS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME, AUTOSOMAL DOMINANT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOSARCOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

POR (cytochrome p450 oxidoreductase)