Gene info: ID 120227

Gene: CYP2R1

GENE ID: 120227

Synonyms: -

Description: cytochrome P450 family 2 subfamily R member 1

Gene type: protein-coding

Location: 11p15.2

dbXrefs: Ensembl:ENSG00000186104 MIM:608713 Vega:OTTHUMG00000165900 UniprotKB:Q6VVX0

RefSeq: NG_007936.1

Retrived from: PubMed|SNP Mapped

SNPs: 0 ANCO-SNPs

Phenotype: ND|AD

# Publications: 6

Sherlock p-value : NA (AD) NA (ND) (Frontal_Cortex)

Pascal p-value : 3.411e-1 (AD) 7.969e-1 (ND)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
PPWD1	0.855
CCDC66	0.851
ORC2	0.848
WDR75	0.846
NHLRC3	0.846
ZMYM6	0.844
ZBED5	0.843
ZNF23	0.843
PMS1	0.838
ZNF182	0.837

Top 10 negatively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
OR4F5	-0.494
OR4F29	-0.453
PLA2G5	-0.312
WNT7B	-0.298
DIO2	-0.252
HES5	-0.243
BTBD17	-0.235
HPSE2	-0.234
NWD1	-0.228
NXNL1	-0.22

ID	Drug Name	Drug Type	CAS Num	Status	Role
DB00153	Ergocalciferol	Small Molecule	50-14-6	Approved\|Nutraceutical	Enzyme
DB00169	Cholecalciferol	Small Molecule	67-97-0	Approved\|Nutraceutical	Enzyme
DB11094	Vitamin D	Small Molecule	1406-16-2	Approved\|Nutraceutical	Enzyme

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	"1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of CYP2R1 mRNA"	28903501
C029790	2,2',3',4,4',5-hexachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CYP2R1 mRNA"	25510870
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	"[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of CYP2R1 mRNA"	19167446
C081766	2,4,4'-trichlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CYP2R1 mRNA"	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CYP2R1 mRNA"	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	"[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of CYP2R1 mRNA"	28433925
C009828	2,4,5,2',5'-pentachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CYP2R1 mRNA"	25510870
C016403	2,4-dinitrotoluene	"2,4-dinitrotoluene affects the expression of CYP2R1 mRNA"	21346803
C009407	2,5,2',5'-tetrachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CYP2R1 mRNA"	25510870
C104450	25-hydroxyvitamin D	CYP2R1 gene SNP affects the abundance of 25-hydroxyvitamin D	24587115
D000082	Acetaminophen	Acetaminophen affects the expression of CYP2R1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of CYP2R1 mRNA	21641981
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of CYP2R1 mRNA	19770486
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in decreased expression of CYP2R1 mRNA	21298039
D000638	Amiodarone	Amiodarone results in increased expression of CYP2R1 mRNA	19774075
C015001	arsenite	arsenite results in decreased expression of CYP2R1 mRNA	23974009
D001280	Atrazine	Atrazine results in increased expression of CYP2R1 mRNA	18522720
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of CYP2R1 mRNA	22300585
C006780	bisphenol A	bisphenol A affects the expression of CYP2R1 mRNA	21786754
C006780	bisphenol A	"[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of CYP2R1 mRNA"	28433925
D002104	Cadmium	Cadmium results in increased expression of CYP2R1 mRNA	18522720
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of CYP2R1 mRNA	17961207
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of CYP2R1 mRNA	24381012
D002392	Catechin	[Catechin co-treated with Grape Seed Proanthocyanidins] results in decreased expression of CYP2R1 mRNA	24763279
D002586	Cesium	Cesium results in decreased expression of CYP2R1 mRNA	18797846
D002994	Clofibrate	Clofibrate results in increased expression of CYP2R1 mRNA	22300585
D003300	Copper	[Disulfiram binds to Copper] which results in increased expression of CYP2R1 mRNA	24690739
D003375	Coumestrol	"[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of CYP2R1 mRNA"	19167446
D016572	Cyclosporine	Cyclosporine results in increased expression of CYP2R1 mRNA	20106945\|2798913
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of CYP2R1 mRNA]	27941970
D004041	Dietary Fats	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of CYP2R1 mRNA	28433925
D019422	Dietary Sucrose	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of CYP2R1 mRNA	28433925
D004051	Diethylhexyl Phthalate	"[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of CYP2R1 mRNA"	28433925
D004221	Disulfiram	[Disulfiram binds to Copper] which results in increased expression of CYP2R1 mRNA	24690739
C024565	ethylene dichloride	ethylene dichloride results in decreased expression of CYP2R1 mRNA	28189721
C511402	Grape Seed Proanthocyanidins	[Catechin co-treated with Grape Seed Proanthocyanidins] results in decreased expression of CYP2R1 mRNA	24763279
D017313	Fenretinide	Fenretinide results in decreased expression of CYP2R1 mRNA	28973697
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of CYP2R1 mRNA	26846883
D002112	Calcifediol	CYP2R1 protein results in increased chemical synthesis of Calcifediol	26704532
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of CYP2R1 mRNA	24796395
C008261	lead acetate	lead acetate results in increased expression of CYP2R1 mRNA	22641619
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of CYP2R1 mRNA	24810058
D037742	Nanotubes, Carbon	"Nanotubes, Carbon analog results in decreased expression of CYP2R1 mRNA"	25620056
D037742	Nanotubes, Carbon	"Nanotubes, Carbon results in decreased expression of CYP2R1 mRNA"	25620056
C464660	obeticholic acid	obeticholic acid results in increased expression of CYP2R1 mRNA	27939613
C410127	PCB 180	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CYP2R1 mRNA"	25510870
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of CYP2R1 mRNA	23892564
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CYP2R1 mRNA	19710929
D010936	Plant Extracts	Plant Extracts results in increased expression of CYP2R1 mRNA	23557933
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of CYP2R1 mRNA	22714537
C045950	propiconazole	propiconazole results in increased expression of CYP2R1 mRNA	21278054
C031280	pyrazole	pyrazole results in increased expression of CYP2R1 mRNA	17945193
D012715	Sesame Oil	Sesame Oil results in increased expression of CYP2R1 mRNA	29191790
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of CYP2R1 mRNA	25351596
C009277	sodium arsenate	sodium arsenate results in decreased expression of CYP2R1 mRNA	23922661
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of CYP2R1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	"[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of CYP2R1 mRNA"	28433925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CYP2R1 mRNA	28213091
D013806	Theophylline	Theophylline results in decreased expression of CYP2R1 protein	26851681
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of CYP2R1 mRNA	28065790
C012589	trichostatin A	trichostatin A results in increased expression of CYP2R1 mRNA	24935251
C016805	tris(1,3-dichloro-2-propyl)phosphate	"tris(1,3-dichloro-2-propyl)phosphate results in increased expression of CYP2R1 mRNA"	26179874
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of CYP2R1 mRNA	29024780
D014501	Uranium	Uranium results in increased expression of CYP2R1 mRNA	16502312
D014520	Urethane	Urethane results in decreased expression of CYP2R1 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of CYP2R1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of CYP2R1 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of CYP2R1 mRNA	19101580\|2493525
D014635	Valproic Acid	Valproic Acid affects the expression of CYP2R1 mRNA	17292431
C025643	vinclozolin	vinclozolin results in decreased expression of CYP2R1 mRNA	22615374
D002762	Cholecalciferol	CYP2R1 protein results in increased hydroxylation of Cholecalciferol	26704532
D024483	Vitamin K 3	Vitamin K 3 affects the expression of CYP2R1 mRNA	20044591
D015032	Zinc	Zinc deficiency results in decreased expression of CYP2R1 mRNA	22171008

GO/Pathway

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005506	iron ion binding	-	IEA	-
GO:0008395	steroid hydroxylase activity	-	IBA	21873635
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	-	IEA	-
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	-	IBA	21873635
GO:0020037	heme binding	-	IBA	21873635
GO:0020037	heme binding	-	IEA	-
GO:0030343	vitamin D3 25-hydroxylase activity	-	TAS	-

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0006082	organic acid metabolic process	-	IBA	21873635
GO:0006766	vitamin metabolic process	-	TAS	-
GO:0006805	xenobiotic metabolic process	-	IBA	21873635
GO:0010164	response to cesium ion	-	IEA	-
GO:0010212	response to ionizing radiation	-	IEA	-
GO:0036378	calcitriol biosynthetic process from calciol	-	IEA	-
GO:0042359	vitamin D metabolic process	-	TAS	-
GO:0042738	exogenous drug catabolic process	-	IBA	21873635
GO:0055114	oxidation-reduction process	-	IBA	21873635
GO:0055114	oxidation-reduction process	-	IEA	-

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005737	cytoplasm	-	IBA	21873635
GO:0005789	endoplasmic reticulum membrane	-	TAS	-
GO:0031090	organelle membrane	-	IEA	-
GO:0043231	intracellular membrane-bounded organelle	-	IBA	21873635

KEGG ID	KEGG Term
hsa00100	Steroid biosynthesis
hsa01100	Metabolic pathways

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1643685	Disease	TAS
R-HSA-196791	Vitamin D (calciferol) metabolism	TAS
R-HSA-211859	Biological oxidations	TAS
R-HSA-211897	Cytochrome P450 - arranged by substrate type	TAS
R-HSA-211916	Vitamins	TAS
R-HSA-211945	Phase I - Functionalization of compounds	TAS
R-HSA-556833	Metabolism of lipids	TAS
R-HSA-5579027	Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)	TAS
R-HSA-5579029	Metabolic disorders of biological oxidation enzymes	TAS
R-HSA-5668914	Diseases of metabolism	TAS
R-HSA-8957322	Metabolism of steroids	TAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID	Title (Year)	Author	Journal
21715529	Maternal smoking and fetal sex significantly affect metabolic enzyme expression in the human fetal liver. (2011 Sep)	O'Shaughnessy PJ	J Clin Endocrinol Metab
29528271	Genetic polymorphisms of vitamin D3 metabolizing CYP24A1 and CYP2R1 enzymes in Turkish patients with ischemic stroke. (2018 May)	Turkanoglu Ozcelik A	Neurol Res
26275945	Relative importance of summer sun exposure, vitamin D intake, and genes to vitamin D status in Dutch older adults: The B-PROOF study. (2016 Nov)	Brouwer-Brolsma EM	J Steroid Biochem Mol Biol
24005870	Dietary, lifestyle, and genetic determinants of vitamin D status: a cross-sectional analysis from the European Prospective Investigation into Cancer and Nutrition (EPIC)-Germany study. (2014 Apr)	Kuhn T	Eur J Nutr
24568525	Lack of associations between Vitamin D metabolism-related gene variants and risk of colorectal cancer. (2014)	Mahmoudi T	Asian Pac J Cancer Prev
28029444	Associations between Serum Vitamin D and Genetic Variants in Vitamin D Pathways and Age-Related Macular Degeneration in the European Eye Study. (2017 Jan)	McKay GJ	Ophthalmology