Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP2R1 Gene

protein-coding   GIFtS: 61
GCID: GC11M014856

cytochrome P450, family 2, subfamily R, polypeptide 1

 Explore 9 diseases affiliated with
CYP2R1 via our new
 Human Malady Compendium 
Biological research products
for CYP2R1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 2, Subfamily R, Polypeptide 11 2
Cytochrome P450 2R12 3
Cytochrome P450, Family 2, R12
Vitamin D 25-Hydroxylase2
EC 1.14.13.1593

External Ids:    HGNC: 205801   Entrez Gene: 1202272   Ensembl: ENSG000001861047   OMIM: 6087135   UniProtKB: Q6VVX03   

Export aliases for CYP2R1 gene to outside databases

Previous GC identifers: GC11M014938 GC11M014863 GC11M014876 GC11M014581


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, Jul 2008)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYP2R1 gene promoter:
         NF-1   Pbx1a   RelA   POU6F1 (c2)   HNF-3beta   FOXO3b   HNF-1A   AREB6   S8   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CYP2R1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CYP2R1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP2R1


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)
CYP2R1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M014856:  view genomic region     (about GC identifiers)

Start:
14,899,553 bp from pter      End:
14,913,798 bp from pter
Size:
14,246 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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; Peripheral
membrane protein
3 PDB 3D structures from and Proteopedia for CYP2R1:
3C6G (3D)        3CZH (3D)        3DL9 (3D)    
Secondary accessions: Q2M3H3 Q5RT65

Explore the universe of human proteins at neXtProt for CYP2R1: NX_Q6VVX0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6VVX0

  • CYP2R1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_078790.2  
    ENSEMBL proteins: 
     ENSP00000465097   ENSP00000466060   ENSP00000432087   ENSP00000466604   ENSP00000435484  
     ENSP00000334592  
    Reactome Protein details: Q6VVX0
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: CYP2R1
    OriGene Protein Over-expression Lysate: CYP2R1
    OriGene Custom Protein Services for CYP2R1 
    GenScript Custom Purified and Recombinant Proteins Services for CYP2R1
    Novus Biologicals CYP2R1 Protein
    Novus Biologicals CYP2R1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CYP2R1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005792microsome ----


    CYP2R1 for ontologies           About GeneDecksing



    CYP2R1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CYP2R1 
    GenScript Custom Superior Antibodies Services for CYP2R1
    Novus Biologicals CYP2R1 Antibodies
    Abcam antibodies for CYP2R1 
    Uscn Antibodies for CYP2R1
    ThermoFisher Antibodies for CYP2R1

    Assay Products for CYP2R1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CYP2R1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CYP2R1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CYP2R1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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: Calciol + O(2) + NADPH = calcidiol + 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 1.14.13.1591

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: CYP2R1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYP2R1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CYP2R1:
    hsa-miR-3164
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CYP2R1 (see all 7)
    OriGene shRNA RFP: CYP2R1
    OriGene siRNA: CYP2R1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CYP2R1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CYP2R1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP2R1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP2R1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CYP2R1 (NM_024514)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP2R1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP2R1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CYP2R1
    Search LifeMap BioReagents cell lines for CYP2R1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP2R1

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA--
    GO:0020037heme binding IEA--


    CYP2R1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Vitamin D2 (ergocalciferol) metabolism
    Vitamin D2 (ergocalciferol) metabolism1.00
    Vitamin D synthesis0.40
    Vitamin D2 (ergocalciferol) metabolism1.00
    Vitamins0.33
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type1.00
    cytochrome P4500.73
    Phase 1 - Functionalization of compounds0.74
    3Vitamin D (calciferol) metabolism
    Vitamin D (calciferol) metabolism1.00
    Metabolism of steroid hormones and vitamin D0.27
    Steroid hormones0.27
    4Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38
    5Biological oxidations
    Biological oxidations1.00
    metapathway biotransformation0.41

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CYP2R1
        Vitamin D2 (ergocalciferol) metabolism


    1 GeneGo (Thomson Reuters) Pathway for CYP2R1
        Vitamin D2 (ergocalciferol) metabolism

    3 BioSystems Pathways for CYP2R1 
        cytochrome P450
    Vitamin D synthesis
    metapathway biotransformation

    5/9        Reactome Pathways for CYP2R1 (see all 9)
        Cytochrome P450 - arranged by substrate type
    Metabolism
    Steroid hormones
    Vitamin D (calciferol) metabolism
    Metabolism of steroid hormones and vitamin D


    2         Kegg Pathways  (Kegg details for CYP2R1):
        Steroid biosynthesis
    Metabolic pathways


    CYP2R1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP2R1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for CYP2R1 (ENSP000003345924) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYP27B1ENSP000002286064STRING: ENSP00000228606
    GCENSP000002739514STRING: ENSP00000273951
    --ENSP000002653024STRING: ENSP00000265302
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008202steroid metabolic process TAS--
    GO:0010038response to metal ion ----
    GO:0010164response to cesium ion ----


    CYP2R1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CYP2R1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CYP2R1

    6 HMDB Compounds for CYP2R1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Ergocalciferol(+)-Vitamin D2 (see all 72)50-14-6--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Vitamin D3(+)-Vitamin D3 (see all 32)67-97-0--

    2 DrugBank Compounds for CYP2R1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cholecalciferol(+)-vitamin D3 (see all 5)67-97-0enzymesubstrate16886665 20619365 15353333 8809353
    ErgocalciferolSynthetic Vitamin D (see all 2)50-14-6enzymesubstrate17223345 17607662 16516540

    2 Novoseek chemical compound relationships for CYP2R1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    25-hydroxyvitamin d 74.1 2 15128933 (1), 17607662 (1)
    vitamin d 69.7 10 15128933 (2), 17607662 (2), 15544953 (2), 16598763 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about CYP2R1 / CP2R1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CYP2R1 gene: 
    NM_024514.4  

    Unigene Cluster for CYP2R1:

    Cytochrome P450, family 2, subfamily R, polypeptide 1
    Hs.371427  [show with all ESTs]
    Unigene Representative Sequence: AK092584
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532805(uc001mls.1) ENST00000530609(uc001mlp.3) ENST00000534686(uc001mlq.3)
    ENST00000525015 ENST00000532378 ENST00000334636(uc001mlr.3) ENST00000526489
    ENST00000526276 ENST00000532641 ENST00000529043

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: CYP2R1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYP2R1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CYP2R1:
    hsa-miR-3164
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CYP2R1 (see all 7)
    OriGene shRNA RFP: CYP2R1
    OriGene siRNA: CYP2R1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CYP2R1
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP2R1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP2R1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CYP2R1 (NM_024514)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP2R1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP2R1 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP2R1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CYP2R1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP2R1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP2R1

    Additional cDNA sequence: 

    AK092584.1 AK312019.1 AY323817.1 BC052580.1 BC084557.1 BC104907.1 BC104909.1 BC111070.1 

    12 DOTS entries:

    DT.91750931  DT.100777563  DT.100803965  DT.101964522  DT.99992814  DT.75102966  DT.100715289  DT.97839895 
    DT.120680334  DT.86847566  DT.91992241  DT.92062716 

    24/97 AceView cDNA sequences (see all 97):

    AW139576 CK904857 CR600246 AW138676 AA115449 BQ706528 BX359739 AY323817 
    CK430531 AI582291 AI873300 BC003642 CK904856 NM_024514 CB305439 AI221745 
    BM724854 BX381339 AI735389 BM818896 AW771485 BE294597 AI742255 BE217836 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CYP2R1 (see all 8)    About this scheme

    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:                                -     -     -     -     -     -                                                         


    ECgene alternative splicing isoforms for CYP2R1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CYP2R1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACATTGCAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CYP2R1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP2R1

    SOURCE GeneReport for Unigene cluster: Hs.371427
        SABiosciences Expression via Pathway-Focused PCR Array including CYP2R1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP2R1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CYP2R1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP2R1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP2R1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP2R1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CYP2R1 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CYP2R11 cytochrome P450, family 2, subfamily R, polypeptide more 78.09(n)
    82.35(a)
      423065  XM_420996.3  XP_420996.3 
    lizard
    (Anolis carolinensis)
    Reptilia CYP2R16
    --
    74(a)
    1 ↔ 1
    1(64793360-64808831)
    zebrafish
    (Danio rerio)
    Actinopterygii cyp2r11 cytochrome P450, family 2, subfamily R, polypeptide more 66.33(n)
    69.26(a)
      563369  XM_686732.3  XP_691824.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp18a16
    phm6
    phantom
    28(a)
    23(a)
    many ↔ many
    many ↔ many
    X(18582570-18586778)
    X(18579802-18582257)
    worm
    (Caenorhabditis elegans)
    Secernentea cyp-14A36
    cyp-33C86
    (see all 25)
    CYtochrome P450 family member (cyp-33C8)
    (see all 25)
    30(a)
    30(a)
    (see all 25)
    many ↔ many
    many ↔ many
    (see all 25)
    X(13271808-13274149)
    V(3800762-3803440)


    ENSEMBL Gene Tree for CYP2R1 (if available)
    TreeFam Gene Tree for CYP2R1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP2R1 gene
    CYP2W12  CYP2C82  CYP2F12  CYP2A72  CYP2U12  CYP2J22  CYP2E12  CYP2D62  
    CYP2B7P12  CYP2A62  CYP2B62  CYP2C192  CYP2S12  CYP2C92  CYP2C182  CYP2A132  
    18/32 SIMAP similar genes for CYP2R1 using alignment to 4 protein entries:     CP2R1_HUMAN (see all proteins) (see all similar genes):
    CYP2J2    CYP2G1P    CYP2U1    CYP2A13    CYP2C8    CYP 2C
    CYP2A7    CYP2D6    CYP2C9    CYP2D7P1    CYP2E1    CYP2A6
    CYP2B7    CYP2S1    CYP2W1    CYP2F1    CYP2A6V2    CYP2C19

    CYP2R1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/203 NCBI SNPs in CYP2R1 are shown (see all 203    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs614952461,2
    C,F,pathogenic86642248(-) ATGCCT/CTGTTC 2 /P /L mis12Minor allele frequency- C:0.00NA 4902
    rs754876851,2
    C,F,--14582711(+) AATATT/CTTCCT 1 -- int12Minor allele frequency- C:0.05CSA WA 122
    rs617426031,2
    C--14584302(+) AATGCT/CGAGGT 2 /Q /R mis11Minor allele frequency- C:0.01NS 74
    rs122919091,2
    C,F,--14586663(+) agttcT/Cggcca 1 -- int15Minor allele frequency- C:0.40NA 10
    rs617445711,2
    C--14589820(+) AATTTC/TGCTTT 2 K E mis11Minor allele frequency- T:0.01NS 66
    rs783838851,2
    --14589963(+) TAACCA/GTGGAA 1 -- int10--------
    rs1122051701,2
    --14590008(+) TGTTAC/TGTCCC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs800117531,2
    --14590270(+) ATATAT/CATGCT 1 -- int12Minor allele frequency- C:0.04CSA WA 120
    rs174101571,2
    C,--14592684(+) TAAATT/GACAAA 1 -- int13Minor allele frequency- G:0.01NA 142
    rs745482541,2
    --14592817(+) CTTGCC/TTTAAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for CYP2R1 (14899553 - 14913798 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CYP2R1: --
    Human Gene Mutation Database (HGMD): CYP2R1

    Locus Specific Mutation Databases (LSDB): CYP2R1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP2R1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP2R1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CYP2R1 for disorders           About GeneDecksing

    OMIM gene information: 608713   
    OMIM disorders: 600081  
    UniProtKB/Swiss-Prot: CP2R1_HUMAN, Q6VVX0
  • Defects in CYP2R1 are the cause of rickets vitamin D-dependent type 1B (VDDR1B) [MIM:600081]; also known as
  • pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency. A disorder caused by a selective deficiency of
    the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical
    features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated
    alkaline phosphatase activityand low levels of 25-hydroxyvitamin D

    9 diseases for CYP2R1:    About MalaCards
    rickets due to defect in vitamin d 25-hydroxylation    cholesterol    rickets    gestational diabetes
    diabetes mellitus    multiple sclerosis    nephropathy    rabies
    asthma

    1 disease from the University of Copenhagen DISEASES database for CYP2R1:
    Rickets
    Human Genome Epidemiology (HuGE) Navigator: CYP2R1 (11 documents)

    Export disorders for CYP2R1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CYP2R1 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with CYP2R1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25- hydroxylase. (PubMed id 12867411)1, 2, 3 Cheng J.B.... Russell D.W. (2003)
    2. CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans. (PubMed id 17607662)1, 7, 9 Ramos-Lopez E....Badenhoop K. (2007)
    3. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25- hydroxylase. (PubMed id 15128933)1, 2, 9 Cheng J.B.... Russell D.W. (2004)
    4. Cytochromes P450 are essential players in the vitamin D signaling system. (PubMed id 20619365)1, 7 Schuster I. (2011)
    5. Structural analysis of CYP2R1 in complex with vitamin D3. (PubMed id 18511070)1, 2 Strushkevich N....Park H.W. (2008)
    6. CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients. (PubMed id 17223345)1, 7 Ramos-Lopez E....Badenhoop K. (2007)
    7. Metabolism of vitamin D by human microsomal CYP2R1. (PubMed id 15465040)1, 2 Shinkyo R.... Inouye K. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Comparison of P450s from human and fugu: 420 million years of vertebrate P450 evolution. (PubMed id 12464240)1, 3 Nelson D.R. (2003)
    10. The GC, CYP2R1 and DHCR7 genes are associated with vit amin D levels in northeastern Han Chinese children. (PubMed id 22801813)1 Zhang Y....Ren L. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 120227 HGNC: 20580 AceView: CYP2R1 Ensembl:ENSG00000186104 euGenes: HUgn120227
    ECgene: CYP2R1 Kegg: 120227 H-InvDB: CYP2R1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CYP2R1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for CYP2R1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CYP2R1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP2R1  
     OriGene Protein Over-expression Lysate for CYP2R1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for CYP2R1   OriGene 3'-UTR Clone for CYP2R1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP2R1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP2R1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for CYP2R1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CYP2R1   OriGene Custom Protein Services for CYP2R1  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CYP2R1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP2R1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP2R1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CYP2R1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP2R1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP2R1
     GenScript Custom Purified and Recombinant Proteins Services for CYP2R1 GenScript cDNA clones with any tag delivered in your preferred vector for CYP2R1
     GenScript Custom Assay Services for CYP2R1 GenScript Custom Superior Antibodies Services for CYP2R1
     GenScript Custom overexpressing Cell Line Services for CYP2R1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in CYP2R1 promoter
     Search Chromatin IP Primers for CYP2R1
     RT2 qPCR Primer Assay in human, mouse, rat CYP2R1
     GNC Network for CYP2R1
     SABiosciences PCR Arrays including human, mouse, rat CYP2R1
     Search Tocris compounds for CYP2R1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     CYP2R1 antibodies
     CYP2R1 proteins
     CYP2R1 lysates
     Antibodies for CYP2R1
     See all of Abcam's Antibodies, Kits and Proteins for CYP2R1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     CYP2R1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for CYP2R1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP2R1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for CYP2R1
     SwitchGear Promoter luciferase reporter plasmids for CYP2R1
     ThermoFisher Antibodies for CYP2R1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP2R1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CYP2R1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4