Property Summary

NCBI Gene PubMed Count 59
PubMed Score 84.71
PubTator Score 75.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
osteosarcoma -1.341 4.4e-05
intraductal papillary-mucinous adenoma (... 1.800 2.1e-05
intraductal papillary-mucinous carcinoma... 1.300 1.4e-03
group 3 medulloblastoma 1.400 5.2e-04
Pick disease -1.200 1.9e-05
ovarian cancer -1.600 9.6e-09

Gene RIF (54)

PMID Text
26911666 Vitamin D related (VDR rs2228570 and CYP2R1 rs10741657) and IL28B rs12979860 genes polymorphisms accurately assure sustained viral response in naive CHC G4 patients treated with low cost standard therapy.
26661839 rs11023374 in CYP2R1 was significantly associated with serum 25(OH)D3.
26383826 The aim of this study was to investigate the association of three polymorphisms in the GC gene (rs7041 and rs4588) and CYP2R1 gene (rs10741657) on 25-(OH) VD serum concentration among Jordanians.
26177022 The VDR and CYP2R1 variants may be involved in genetic interactions in the pathogenesis of persistent allergic rhinitis.
26149120 Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations
26073892 A significant association was found between decreased ASD risk and child CYP2R1 AA-genotype.
25942481 CYP2R1 alleles have dosage-dependent effects on vitamin D homeostasis. CYP2R1 mutations cause a novel form of genetic vitamin D deficiency with semidominant inheritance.
25845986 The 25-hydroxylases CYP2R1 and CYP27A1 catalyze vitamin D to its circulating form 25-hydroxyvitamin D.
25730676 Found a significant upregulation of the CYP2R1 gene in human brain pericytes challenged with tumor necrosis factor-alpha and interferon-gamma. Results suggest the existence of an autocrine/paracrine vitamin D system in the neurovascular unit.
25527766 genetic association studies in populations in Denmark: Data suggest that an SNP in CYP2R1 (rs10741657) is associated with response to either UVB treatment or vitamin D3 fortification of bread and milk in prevention of vitamin D deficiency in winter.
25405862 Significant associations were found between the GC (rs2282679 and rs7041), CYP2R1 (rs10741657) single nucleotide polymorphisms and the active form of Vitamin D, 25(OH)D.
25208829 Data indicate that genome-wide significant associations were found both at age 6 and 14 with single nucleotide polymorphisms (SNPs) on chromosome 11p15 in phosphodiesterase 3B, cGMP-inhibited protein PDE3B/cytochrome P-450 CYP2R1 genes.
25079458 CYP2R1 variants had no significant association with serum 25-OHD3 levels among postmenopausal women of the Han ethnic group in Beijing.
25070320 The increase in [25(OH)D] attributable to vitamin D3 supplementation may vary according to common genetic differences in vitamin D 25-hydroxylase (CYP2R1), 24-hydroxylase (CYP24A1), and the vitamin D receptor (VDR) genes.
25046415 genetic differences in the VDR gene may be involved in the development of AITD and the activity of GD, whereas the genetic differences in the GC and CYP2R1 genes may be involved with the intractability of GD.
25003556 The CYP2R1 rs10741657 polymorphism is a novel genetic marker for coronary artery disease.
24974252 In this mendelian randomisation study, we generated an allele score (25[OH]D synthesis score) based on variants of genes that affect 25(OH)D synthesis or substrate availability (CYP2R1 and DHCR7)
24732451 Studied whether abnormal endometrial expression of CYP27A1 and/or CYP2R1 may impair VDR-antiproliferative properties in endometrial carcinoma.
24587115 common polymorphisms in GC and CYP2R1 are associated with serum 25(OH)D concentrations in the Caucasian population and that certain haplotypes may predispose to lower 25(OH)D concentrations in late summer in Denmark.
24497297 Data indicate that 1,25(OH)2D3 treatment time-dependently increased Cytochrome P450 2R1 (CYP2R1) expression in oral squamous cell carcinomas.
24245571 Results show that upregulated gene expression of CYP2R1 may lead to misbalance of vitamin D metabolites and may contribute to the pathogenesis of RCC
24128439 Low baseline DNA methylation levels in the promoter region of CYP2R1 is associated with low vitamin D response.
24073854 The GAA haplotype of the CYP2R1 gene (P = 0.026) is associated with susceptibility to rickets.
23826131 SNPs in the CYP24A1, CYP2R1, calcium sensing receptor (CASR), vitamin D binding protein (GC), retinoid X receptor-alpha (RXRA) and megalin (LRP2) genes were significantly associated with pancreas cancer risk.
23793229 CYP2R1 rs10741657 A>G polymorphism is associated with colon cancer recurrence.
23734184 Data indicate that the same nucleotide polymorphisms (SNPs) genotypes of CYP2R1, GC and DHCR7 that are associated with reduced 25(OH)D3 serum levels were found to be associated with hepatitis C virus (HCV)-related hepatocellular carcinoma (HCC).
23377224 Genetic variation in CYP2R1 associated with lower serum 25(OH)D has a decreased risk of aggressive prostate cancer.
23190755 genetic association studies in postmenopausal Caucasian women in US: Data suggest that 4 SNPs in CYP2R1 are associated with 25-hydroxyvitamin D in blood (i.e., vitamin D deficiency); vitamin D intake/seasonal sunlight exposure modify these effects.
23063903 Finding suggest that GG genotype of CYP2R1 polymorphism and/or CC genotype of CYP27B1 polymorphism increased the risk of developing of type 1 diabetes in Egyptian children.
23047203 In vitro and in vivo studies revealed that CYP2R1 expression in Leydig cells appeared to be hCG dependent.
22855339 CYP2R1 is a major vitamin D 25-hydroxylase that plays a fundamental role in activation of this essential vitamin.
22801813 Our study found that variant genotypes of single nucleotide polymorphisms in the CYP2R1 gene, rs10766197, rs12794714, rs10741657, rs2060793 and rs1562902, were all significantly associated with plasma 25-hydroxyvitamin D levels.
22583563 genetic association study in population in Singapore: Data suggest that diet and SNPs in CYP2R1, CYP3A4 (cytochrome P450, subfamily 3A, polypeptide 4), and GC/VDBP (group-specific component) interact to contribute to vitamin D deficiency.
22576297 Our study is the first to confirm the association of variants in DHCR7 and CYP2R1 with 25(OH)-vitamin D levels in patients with chronic liver diseases.
21441443 Study confirms that variation in CYP2R1 is associated with predisposition to autoimmune disease type 1 diabetes.
21270327 We found a lower gene and protein expression of CYP2R1 in samples with hypospermatogenesis and Sertoli-cell-only syndrome.
20809279 The results suggest that the CYP2R1 and GC genes may contribute to the variation of serum 25(OH)D levels in healthy populations.
20809279 Observational study of gene-disease association. (HuGE Navigator)
20654748 Observational study of gene-disease association. (HuGE Navigator)
20619365 Studies indicate that vitamin D synthesis, a two-step process, starts with a 25-hydroxylation primarily by CYP2R1 and a subsequent 1alpha-hydroxylation via CYP27B1.
20541252 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
20418485 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
20007432 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19852851 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19783860 No significant differences were observed in genotype or allele frequencies between case and control groups for VDR, CYP27B1 or CYP2R1 SNPs
19783860 Observational study of gene-disease association. (HuGE Navigator)
18511070 The structure reveals the secosteroid binding mode in an extended active site and allows rationalization of the molecular basis of the inherited rickets associated with CYP2R1.
18476984 Observational study of gene-disease association. (HuGE Navigator)
17607662 Observational study of gene-disease association. (HuGE Navigator)
17607662 Novel association of CYP2R1 polymorphisms in patients with type 1 diabetes and with circulating levels of vitamin D.
17223345 CYP27B1 gene could play a functional role in the pathogenesis of type 1 diabetes through modulation of its mRNA expression and influence serum levels of 1,25(OH)(2)D(3) via the -1260 C/A polymorphism
16600026 Observational study of gene-disease association. (HuGE Navigator)
15465040 Results suggest that CYP2R1 plays a physiologically important role in the vitamin D 25-hydroxylation in humans.
12867411 CYP2R1 is a strong candidate for the microsomal vitamin D 25-hydroxylase.

AA Sequence

MWKLWRAEEGAAALGGALFLLLFALGVRQLLKQRRPMGFPPGPPGLPFIGNIYSLAASSELPHVYMRKQS      1 - 70
QVYGEIFSLDLGGISTVVLNGYDVVKECLVHQSEIFADRPCLPLFMKMTKMGGLLNSRYGRGWVDHRRLA     71 - 140
VNSFRYFGYGQKSFESKILEETKFFNDAIETYKGRPFDFKQLITNAVSNITNLIIFGERFTYEDTDFQHM    141 - 210
IELFSENVELAASASVFLYNAFPWIGILPFGKHQQLFRNAAVVYDFLSRLIEKASVNRKPQLPQHFVDAY    211 - 280
LDEMDQGKNDPSSTFSKENLIFSVGELIIAGTETTTNVLRWAILFMALYPNIQGQVQKEIDLIMGPNGKP    281 - 350
SWDDKCKMPYTEAVLHEVLRFCNIVPLGIFHATSEDAVVRGYSIPKGTTVITNLYSVHFDEKYWRDPEVF    351 - 420
HPERFLDSSGYFAKKEALVPFSLGRRHCLGEHLARMEMFLFFTALLQRFHLHFPHELVPDLKPRLGMTLQ    421 - 490
PQPYLICAERR                                                               491 - 501
//

Text Mined References (59)

PMID Year Title
26911666 2016 Integrative role of vitamin D related and Interleukin-28B genes polymorphism in predicting treatment outcomes of Chronic Hepatitis C.
26661839 2016 Genetics, Diet, and Season Are Associated with Serum 25-Hydroxycholecalciferol Concentration in a Yup'ik Study Population from Southwestern Alaska.
26383826 2015 Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients.
26177022 2015 Association of VDR and CYP2R1 Polymorphisms with Mite-Sensitized Persistent Allergic Rhinitis in a Chinese Population.
26149120 2015 Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes.
26073892 2015 Selected vitamin D metabolic gene variants and risk for autism spectrum disorder in the CHARGE Study.
25942481 2015 CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency.
25845986 2015 Childhood asthma and spirometric indices are associated with polymorphic markers of two vitamin D 25-hydroxylase genes.
25730676 2015 Expression of CYP2R1 and VDR in human brain pericytes: the neurovascular vitamin D autocrine/paracrine model.
25527766 2015 Common variants in CYP2R1 and GC genes are both determinants of serum 25-hydroxyvitamin D concentrations after UVB irradiation and after consumption of vitamin D?-fortified bread and milk during winter in Denmark.
25405862 2014 Vitamin D insufficiency in Arabs and South Asians positively associates with polymorphisms in GC and CYP2R1 genes.
25208829 2014 Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
25079458 Association of genetic variants of vit D binding protein (DBP/GC) and of the enzyme catalyzing its 25-hydroxylation (DCYP2R1) and serum vit D in postmenopausal women.
25070320 2014 Genetic variants in CYP2R1, CYP24A1, and VDR modify the efficacy of vitamin D3 supplementation for increasing serum 25-hydroxyvitamin D levels in a randomized controlled trial.
25046415 2014 The functional polymorphisms of VDR, GC and CYP2R1 are involved in the pathogenesis of autoimmune thyroid diseases.
25003556 2014 Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and rs12794714), 25-hydroxyvitamin d levels, and coronary artery disease incidence.
24974252 2014 Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study.
24732451 2014 Role of local bioactivation of vitamin D by CYP27A1 and CYP2R1 in the control of cell growth in normal endometrium and endometrial carcinoma.
24587115 2014 Common variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children and adults.
24497297 2014 1?,25-dihydroxyvitamin D3 modulates CYP2R1 gene expression in human oral squamous cell carcinoma tumor cells.
24245571 2013 Vitamin D hydroxylases CYP2R1, CYP27B1 and CYP24A1 in renal cell carcinoma.
24128439 2014 DNA methylation levels of CYP2R1 and CYP24A1 predict vitamin D response variation.
24073854 2013 Relationship between polymorphisms in vitamin D metabolism-related genes and the risk of rickets in Han Chinese children.
23826131 2013 Genetic variants in vitamin d pathway genes and risk of pancreas cancer; results from a population-based case-control study in ontario, Canada.
23793229 2013 Association of common gene variants in vitamin D modulating genes and colon cancer recurrence.
23734184 2013 Genetic analyses reveal a role for vitamin D insufficiency in HCV-associated hepatocellular carcinoma development.
23377224 2013 Genetic variation in the vitamin d pathway in relation to risk of prostate cancer--results from the breast and prostate cancer cohort consortium.
23190755 2013 Vitamin D intake and season modify the effects of the GC and CYP2R1 genes on 25-hydroxyvitamin D concentrations.
23063903 2012 Synergism of CYP2R1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Egyptian children.
23047203 2013 Altered bone status in unilateral testicular cancer survivors: Role of CYP2R1 and its luteinizing hormone-dependency.
22855339 2012 Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency.
22801813 2012 The GC, CYP2R1 and DHCR7 genes are associated with vitamin D levels in northeastern Han Chinese children.
22583563 2013 Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore.
22576297 2012 Common genetic variation in vitamin D metabolism is associated with liver stiffness.
21441443 2011 Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes.
21270327 2011 Bone mineral density and testicular failure: evidence for a role of vitamin D 25-hydroxylase in human testis.
20809279 2010 Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects.
20654748 2010 High-density polymorphisms analysis of 23 candidate genes for association with bone mineral density.
20619365 2011 Cytochromes P450 are essential players in the vitamin D signaling system.
20541252 2010 Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
20418485 2010 Genome-wide association study of circulating vitamin D levels.
20007432 2010 Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis.
19852851 2009 Asthma and genes encoding components of the vitamin D pathway.
19783860 2010 A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy.
18511070 2008 Structural analysis of CYP2R1 in complex with vitamin D3.
18476984 2008 Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms.
17607662 2007 CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans.
17223345 2007 CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients.
16600026 2006 Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
15951480 2005 Vitamin D.
15583024 2004 Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15465040 2004 Metabolism of vitamin D by human microsomal CYP2R1.
15128933 2004 Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.
15128046 2004 Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12867411 2003 De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12464240 2003 Comparison of P450s from human and fugu: 420 million years of vertebrate P450 evolution.