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Aliases & Descriptions for CYP2R1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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User Feedback Aliases & Descriptions cytochrome P450, family 2, subfamily R, polypeptide 11 2 Cytochrome P450 2R12 3 vitamin D 25-hydroxylase2 MGC46632 cytochrome P450, family 2, R12 EC 1.14.13.153
Search outside databases for aliases for CYP2R1 genePrevious GC identifers: GC11M014938 GC11M014863 GC11M014876
Summaries for CYP2R1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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User Feedback Entrez Gene summary for CYP2R1 : This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. (provided by RefSeq) UniProtKB/Swiss-Prot: CP2R1_HUMAN, Q6VVX0 Function : Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3)Gene Wiki entry for CYP2R1
Genomic Views for CYP2R1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl (release 56) ,
Regulatory elements and Epigenetics data according to
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User Feedback Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CYP2R1 gene upstream (promoter) region :POU2F1 RSRFC4 GATA-1 MEF-2A GATA-3 GATA-2 POU2F2C oct-B2 oct-B3 POU2F2 Epigenetics: SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for CYP2R1: MePH14842-1A Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 11p15.2 Ensembl cytogenetic band: 11p15.2 HGNC cytogenetic band: 11p15.2 CYP2R1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure
GeneLoc location for GC11M014856: view genomic region
(about GC identifiers )
Start:
14,899,555 bp from pter
End:
14,913,751 bp from pter
Size:
14,197 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000011.9 NT_009237.18 Proteins for CYP2R1 gene
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene ,
Novus Biologicals , and/or
Sino Biological ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 May 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abnova ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
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User Feedback UniProtKB/Swiss-Prot: CP2R1_HUMAN, Q6VVX0 (See
protein sequence )Recommended Name: Vitamin D 25-hydroxylase Size : 501 amino acids; 57359 Da
Cofactor : Heme group (By similarity)
Subunit : Homodimer
Subcellular location : Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheralmembrane protein
PDB structures from and Proteopedia : 3C6G (3D)
 3CZH (3D)
 3DL9 (3D)
 
Secondary accessions : Q2M3H3 Q5RT65
REFSEQ proteins: NP_078790.2 ENSEMBL proteins: ENSP00000334592 Human Recombinant Proteins 5 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
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CYP2R1 for ontologies About GeneDecksing Antibodies for CYP2R1: Assays for CYP2R1:
Protein
Domains/ Families for CYP2R1 gene(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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CYP2R1 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q6VVX0 ProtoNet protein and cluster: Q6VVX0
1 Blocks protein family : IPB002401 E-class P450 group I signature UniProtKB/Swiss-Prot: CP2R1_HUMAN, Q6VVX0 Similarity : Belongs to the cytochrome P450 family
Gene Function for CYP2R1 gene
(According to MGI May 08 2010, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Millipore ,
Abnova ,
siRNAs from
Applied Biosystems ,
Sigma-Aldrich , Clones from
Millipore ,
Sigma-Aldrich ,
OriGene ,
Sino Biological ,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene .)
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User Feedback UniProtKB/Swiss-Prot: CP2R1_HUMAN, Q6VVX0 Function : Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3)Catalytic activity : 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol + NADPH + O(2) =(25R)-5-beta-cholestane-3-alpha,7-alpha,12-alpha,26-tetraol + NADP(+) + H(2)O Biophysicochemical properties : Kinetic parameters: KM=0.67 uM for vitamin D(2); KM=0.45 uM for vitamin D(3);Enzyme Number (IUBMB): EC 1.14.13.15
5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7
):
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CYP2R1 for ontologies About GeneDecksing Animal Models: 1 MGI phenotypic allele for Cyp2r1 (no phenotypes)
CYP2R1 for phenotypes About GeneDecksing Pathways & Interactions for CYP2R1 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
Applied Biosystems GeneAssist ,
KEGG
and/or UniProtKB ,
(map by GeneGo ),
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene) .
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CYP2R1 for pathways About GeneDecksing 1 Millipore Pathway for CYP2R1 SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP2R1 2 Interacting proteins for CYP2R1 (ENSP00000334592 3 ) via UniProtKB, MINT, and/or STRING About this table 2 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0042359 vitamin D metabolic process
IEA -- GO:0055114 oxidation reduction
IEA --
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CYP2R1 for ontologies About GeneDecksing
Drugs & Compounds for CYP2R1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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CYP2R1 for compounds About GeneDecksing
Enzo Life Sciences drugs & compounds for CYP2R1
Browse Tocris compounds for CYP2R1 7 Novoseek chemical compound relationships for CYP2R1 gene
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Transcripts for CYP2R1 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 223 Homo sapiens; Apr 2 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
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User Feedback Assays: Applied Biosystems TaqMan® Gene Expression Assays: NM_024514 Clones: Origene GFP tagged cDNA clones in CMV expression vector: CYP2R1 Origene Myc/DDK tagged cDNA clones in CMV expression vector: CYP2R1 Origene untagged cDNA clones in CMV expression vector (see all 2 ): CYP2R1
Primers: Origene genome-wide validated SYBR primer pairs: CYP2R1 SABiosciences RT2 qPCR Primer Assay for CYP2R1: PPH18346A
REFSEQ mRNAs for CYP2R1 gene: NM_024514.4
Additional cDNA sequence: AK092584.1 AK312019.1 AY323817.1 BC052580.1 BC084557.1 BC104907.1 BC104909.1 BC111070.1 CR600246.1
12 DOTS entries : DT.91750931 DT.100777563 DT.100803965 DT.101964522 DT.99992814 DT.100715289 DT.75102966 DT.97839895
DT.120680334 DT.86847566 DT.91992241 DT.92062716 24/97 AceView cDNA sequences (see all 97
):
AI221745 CR600246 BM724854 BQ706528 BX359739 CK904856 AY323817 AI873300 CK430531 BX381339 CK904857 AA115449 AI582291 NM_024514 BC003642 AW138676 AW139576 CB305439 BM977264 AU253802 AI818612 BM823213 AW771485 BM055218
highest scoring ESTs for CYP2R1 :AY323817 AA099882 AI735389 AU253802 AW845355 BC052580 BE155715 BE294597 BG826721 BI548611 Unigene Cluster for CYP2R1:
Cytochrome P450, family 2, subfamily R, polypeptide 1 Hs.371427 [show with all ESTs ] Unigene Representative Sequence: AK092584 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CYP2R1 (see all 8
) ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b SP1 :   -   -   -   -   -   -   -   -   -   -                     SP2 :             -   -   -   -   -                     SP3 :                             -   -   -         SP4 :               -     -   -                     SP5 :           -   -   -   -   -   -                    
About this scheme ECgene alternative splicing isoforms for CYP2R1 1 Ensembl transcript including schematic representation : ENST00000334636
Expression for CYP2R1 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 223 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems ,
Primers from
OriGene and/or
SABiosciences
)
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User Feedback CYP2R1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for CYP2R1 1 / 2 / 3
3 probe-sets matching CYP2R1 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
58365_at2 , 3
U95-B
1
0.81
1.00
1.00
1.00
AI735389
0.60
1.00
0.82
1
227109_at2 , 3
U133-B
1
0.82
1.00
--
--
AV700558
0.40
1.00
0.76
1
227109_at2
U133Plus2
1
0.82
1.00
--
--
--
--
--
--
--
About this table
CYP2R1 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ACATTGCAGC SOURCE GeneReport for Unigene cluster: Hs.371427 Primers: Origene genome-wide validated SYBR primer pairs: CYP2R1 SABiosciences RT2 qPCR Primer Assay for CYP2R1: PPH18346A
Orthologs for CYP2R1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI May 08 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for CYP2R1 gene from 5/7 species (see all 7
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
LOC6129931
--
similar to cytochrome P450, family 2, subfamily R, more
92.66(n) 94.14(a)
612993 XM_849440.1 XP_854533.1
chimpanzee (Pan troglodytes)
LOC4510421
--
similar to cytochrome P450 2R1
99.47(n) 99.4(a)
451042 XM_001172230.1 XP_001172230.1
cow (Bos taurus)
CYP2R11
--
cytochrome P450, family 2, subfamily R, polypeptide more
90(n) 90.33(a)
541302 NM_001076267.1 NP_001069735.1
rat (Rattus norvegicus)
Cyp2r11
--
cytochrome P450, family 2, subfamily r, polypeptide more
88.16(n) 87.82(a)
361631 XM_341909.2 XP_341910.2
mouse (Mus musculus)
Cyp2r11 , 5
75
cytochrome P450, family 2, subfamily r, polypeptide more 1, 5
88.96(n) 1 88.62(a) 1
244209 1 NM_177382.3 1 NP_796356.2 1 AK050453 5 AY323818 5 (see all 8 )
About this table Species with no ortholog for CYP2R1 ENSEMBL Gene Tree for CYP2R1 Paralogs for CYP2R1 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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User Feedback Paralogs for CYP2R1 gene CYP2W1 2 CYP2C8 2 CYP2G1P 2 CYP2F1 2 CYP2U1 2 CYP2J2 2 CYP2E1 2 CYP2D6 2 CYP2D7P1 2 CYP2A6 2 CYP2B6 2 CYP2C19 2 CYP2S1 2 CYP2C9 2 CYP2C18 2 CYP2A13 2
CYP2R1 for paralogs About GeneDecksing
Genomic Variants for CYP2R1 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants ,
Genotyping Reagents from
Applied Biosystems )
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The following additional 44 SNP(s) have been
found in Applied Biosystems data source:(Click
for
Applied Biosystems TaqMan ® Genotyping Assay ) HapMap Linkage Disequilibrium images for CYP2R1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for CYP2R1: --
Disorders & Mutations for CYP2R1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
BCGD,
and/or TGDB .)
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CYP2R1 for disorders About GeneDecksing
OMIM: 608713 disorders : 600081 UniProtKB/Swiss-Prot: CP2R1_HUMAN, Q6VVX0
Defects in CYP2R1 are a cause of 25-hydroxyvitamin D(3) deficiency (25HOD3D)[MIM:600081]; also known as pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency. First described in patients who had rickets at a young age despite a history of adequate vitamin D intake. The patients sera had low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity, and low levels of 25-hydroxyvitamin D
10 Novoseek disease relationships for CYP2R1 gene
About this table Locus Specific Mutation Databases: CYP2R1 Human Gene Mutation Database : CYP2R1 Human Genome Epidemiology Navigator: CYP2R1 (7 documents)
Medical News for CYP2R1 gene (Possibly Related Articles in
Doctor's Guide )
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User Feedback --
Publications for CYP2R1 gene (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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User Feedback 10/22 PubMed articles for CYP2R1 gene (see all 22
): De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25- hydroxylase. (PubMed id 12867411) 1, 2, 3 , 4 Cheng J.B.... Russell D.W. (2003) Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25- hydroxylase. (PubMed id 15128933) 1, 3 , 4 Cheng J.B.... Russell D.W. (2004) Structural analysis of CYP2R1 in complex with vitamin D3. (PubMed id 18511070) 3 , 4 Strushkevich N....Park H.W. (2008) Metabolism of vitamin D by human microsomal CYP2R1. (PubMed id 15465040) 3 , 4 Shinkyo R.... Inouye K. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3 , 4 Gerhard D.S....Malek J. (2004) Comparison of P450s from human and fugu: 420 million years of vertebrate P450 evolution. (PubMed id 12464240) 2, 3 Nelson D.R. (2003) CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans. (PubMed id 17607662) 1, 3 Ramos-Lopez E....Badenhoop K. (2007) CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients. (PubMed id 17223345) 1, 3 Ramos-Lopez E....Badenhoop K. (2007) A rare haplotype of the vitamin D receptor gene is pr otective against diabetic nephropathy. (PubMed id 19783860) 1, 3 Martin R.J....Maxwell A.P. (year=2010;month=Feb;day=) Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms. (PubMed id 18476984) 1, 3 Ramos-Lopez E....Badenhoop K. (2008)
Search for CYP2R1 gene
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Genome Databases showing CYP2R1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing CYP2R1 gene
(According to HUGE )
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Specialized Databases showing CYP2R1 gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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User Feedback Patent Information for CYP2R1 gene: Search GeneIP for patents involving CYP2R1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search Services for CYP2R1 gene (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Novus Biologicals ,Epitomics , Sigma-Aldrich , R&D Systems , SABiosciences , Millipore , Abnova , Clones available from OriGene , Sigma-Aldrich , Sino Biological , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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User Feedback Products for CYP2R1:
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