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CYP2R1 Gene

protein-coding   GIFtS: 63
GCID: GC11M014856

Cytochrome P450, Family 2, Subfamily R, Polypeptide 1

  See CYP2R1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CYP2R1 Gene:
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)

GeneCards Summary for CYP2R1 Gene:
CYP2R1 (cytochrome P450, family 2, subfamily R, polypeptide 1) is a protein-coding gene. Diseases associated with CYP2R1 include rickets due to defect in vitamin d 25-hydroxylation, and vitamin d-dependent rickets type i. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP2W1.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for CYP2R1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for CYP2R1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CYP2R1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_078790.2  
    ENSEMBL proteins: 
     ENSP00000465097   ENSP00000466060   ENSP00000432087   ENSP00000466604   ENSP00000435484  
     ENSP00000334592  
    Reactome Protein details: Q6VVX0

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP2R1
    CYP2 family

    3 InterPro protein domains:
     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 domain: IPB002401 E-class P450 group I signature

    UniProtKB/Swiss-Prot: CP2R1_HUMAN, Q6VVX0
    Similarity: Belongs to the cytochrome P450 family


    Find genes that share domains with CYP2R1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA--
    GO:0020037heme binding IEA--
    GO:0030343vitamin D3 25-hydroxylase activity IEA--
         
    Find genes that share ontologies with CYP2R1           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Cyp2r1 (no phenotypes)

    Find genes that share phenotypes with CYP2R1           About GenesLikeMe

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP2R1_HUMAN, Q6VVX0: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral
    membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular3
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0043231intracellular membrane-bounded organelle ----

    Find genes that share ontologies with CYP2R1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CYP2R1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Vitamins0.00
    Phase 1 - Functionalization of compounds0.75
    Vitamin D2 ergocalciferol metabolism0.00
    cytochrome P4500.74
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    4Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D
    Vitamin D (calciferol) metabolism0.00
    5superpathway of cholesterol biosynthesis
    Steroid biosynthesis0.57


    Find genes that share SuperPaths with CYP2R1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

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

    2 Reactome Pathways for CYP2R1
        Vitamins
    Vitamin D (calciferol) metabolism


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

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP2R1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP2R1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for CYP2R1 (ENSP000003345924) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYP27B1ENSP000002286064STRING: ENSP00000228606
    GCENSP000002739514STRING: ENSP00000273951
    DHCR7ENSP000003477174STRING: ENSP00000347717
    --ENSP000002653024STRING: ENSP00000265302
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    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 IEA--

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CYP2R1 (CP2R1)

    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 inferred 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)



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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 97):

    BX359739 CR600246 AI873300 BC003642 AI582291 CB305439 AY323817 AW138676 
    BM724854 AW139576 CK430531 BQ706528 CK904856 AA115449 AI221745 BX381339 
    CK904857 NM_024514 BM782559 AA058765 BF195757 AW511264 BM908185 AV684453 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYP2R1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATTGCAGC
    CYP2R1 Expression
    About this image

    CYP2R1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP2R1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.371427
        Pathway & Disease-focused RT2 Profiler PCR Array including CYP2R1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    In Situ
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CYP2R1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp2r11 , 5 cytochrome P450, family 2, subfamily r, polypeptide more1, 5 89.89(n)1
    90.53(a)1
      7 (59.79 cM)5
    2442091  NM_177382.31  NP_796356.21 
     1145501665 
    chicken
    (Gallus gallus)
    Aves CYP2R11 cytochrome P450, family 2, subfamily R, polypeptide more 78.65(n)
    83.09(a)
      423065  XM_420996.4  XP_420996.3 
    lizard
    (Anolis carolinensis)
    Reptilia CYP2R16
    cytochrome P450, family 2, subfamily R, polypeptid...
    77(a)
    1 ↔ 1
    1(64793354-64809105)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cyp2r11 cytochrome P450, family 2, subfamily R, polypeptide more 67.94(n)
    75.42(a)
      100127674  NM_001113012.1  NP_001106483.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cyp2r11 cytochrome P450, family 2, subfamily R, polypeptide more 67.52(n)
    70.79(a)
      563369  XM_686732.4  XP_691824.2 


    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)
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    Paralogs for CYP2R1 gene
    CYP2W12  CYP2C82  CYP2A62  CYP2F12  CYP2A72  CYP2B62  CYP2C192  CYP2J22  
    CYP2U12  CYP2S12  CYP2E12  CYP2C92  CYP2D62  CYP2C182  CYP2A132  
    Selected 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    CYP2E1    CYP2S1    CYP2A6    CYP2B7
    CYP2W1    CYP2C9    CYP2F1    CYP2A6V2    CYP2B6    CYP2C19

    Find genes that share paralogs with CYP2R1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYP2R1 (see all 281)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs614952461,2,,4
    C,FRickets vitamin D-dependent 1B (VDDR1B)4 pathogenic114830740(-) ATGCCT/CTGTTC 2 /P /L mis12Minor allele frequency- C:0.00NA 4902
    rs1430929701,2
    C--14822494(+) CTACAC/TTAAAT 1 -- ds50010--------
    rs1443900631,2
    --14822605(+) GACTGA/GTACCA 1 -- ds50010--------
    rs1484140611,2
    --14822848(+) ACAATC/GACGAC 1 -- ds50010--------
    rs22917811,2
    C,F,H--14822855(+) CGACTA/CGTGCT 1 -- ds50014Minor allele frequency- C:0.02NS EA 502
    rs1911256861,2
    --14822901(+) TGTTCA/CTTTGG 1 -- ds50010--------
    rs2013440731,2
    --14823045(+) TAGGGC/TTGGGG 2 Q syn10--------
    rs1463666981,2
    C,F--14823158(+) CATCCG/AAGCCA 2 /R /W mis11Minor allele frequency- A:0.00NA 4546
    rs1504974521,2
    --14823385(+) TACCTA/CCTTTT 1 -- int10--------
    rs1424311791,2
    C--14823409(+) TTTTG-/TTAAGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for CYP2R1 (14899553 - 14913798 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CYP2R1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832071CNV Loss17160897

    The Human Cytochrome P450 Allele Nomenclature Database: CYP2R1 
    Human Gene Mutation Database (HGMD): CYP2R1
    Locus Specific Mutation Databases (LSDB): CYP2R1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 608713   
    OMIM disorders: 600081  
    UniProtKB/Swiss-Prot: CP2R1_HUMAN, Q6VVX0
  • Rickets vitamin D-dependent 1B (VDDR1B) [MIM:600081]: 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 activity and low levels of 25-hydroxyvitamin D. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for CYP2R1:    
    About MalaCards
    rickets due to defect in vitamin d 25-hydroxylation    vitamin d-dependent rickets type i    gestational diabetes

    1 disease from the University of Copenhagen DISEASES database for CYP2R1:
    Rickets

    Find genes that share disorders with CYP2R1           About GenesLikeMe

    Genetic Association Database (GAD): CYP2R1
    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)
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    PubMed articles for CYP2R1 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with CYP2R1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans. (PubMed id 17607662)1, 4, 7, 9 Ramos-Lopez E....Badenhoop K. (Diabetes Metab. Res. Rev. 2007)
    2. De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25- hydroxylase. (PubMed id 12867411)1, 2, 3 Cheng J.B.... Russell D.W. (J. Biol. Chem. 2003)
    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. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    4. Cytochromes P450 are essential players in the vitamin D signaling system. (PubMed id 20619365)1, 7 Schuster I. (Biochim. Biophys. Acta 2011)
    5. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. (PubMed id 20541252)1, 4 Wang T.J....Spector T.D. (Lancet 2010)
    6. A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy. (PubMed id 19783860)1, 4 Martin R.J....Maxwell A.P. (Nephrol. Dial. Transplant. 2010)
    7. Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis. (PubMed id 20007432)1, 4 Simon K.C....Ascherio A. (Mult. Scler. 2010)
    8. Asthma and genes encoding components of the vitamin D pathway. (PubMed id 19852851)1, 4 BossAc Y....Laprise C. (Respir. Res. 2009)
    9. Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms. (PubMed id 18476984)1, 4 Ramos-Lopez E....Louwen F. (amp 2008)
    10. Structural analysis of CYP2R1 in complex with vitamin D3. (PubMed id 18511070)1, 2 Strushkevich N.... Park H.-W. (J. Mol. Biol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 120227 HGNC: 20580 AceView: CYP2R1 Ensembl:ENSG00000186104 euGenes: HUgn120227
    ECgene: CYP2R1 Kegg: 120227 H-InvDB: CYP2R1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



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