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Aliases for CYP2R1 Gene

Aliases for CYP2R1 Gene

  • Cytochrome P450, Family 2, Subfamily R, Polypeptide 1 2 3
  • Cytochrome P450 2R1 4
  • EC 1.14.13.159 4

External Ids for CYP2R1 Gene

Previous GeneCards Identifiers for CYP2R1 Gene

  • GC11M014938
  • GC11M014863
  • GC11M014876
  • GC11M014581

Summaries for CYP2R1 Gene

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 hypocalcemic vitamin d-dependent rickets. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP2C19.

UniProtKB/Swiss-Prot for CYP2R1 Gene

  • Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).

Gene Wiki entry for CYP2R1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP2R1 Gene

Genomics for CYP2R1 Gene

Regulatory Elements for CYP2R1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYP2R1 Gene

Start:
14,877,440 bp from pter
End:
14,892,328 bp from pter
Size:
14,889 bases
Orientation:
Minus strand

Genomic View for CYP2R1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP2R1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP2R1 Gene

Proteins for CYP2R1 Gene

  • Protein details for CYP2R1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6VVX0-CP2R1_HUMAN
    Recommended name:
    Vitamin D 25-hydroxylase
    Protein Accession:
    Q6VVX0
    Secondary Accessions:
    • Q2M3H3
    • Q5RT65

    Protein attributes for CYP2R1 Gene

    Size:
    501 amino acids
    Molecular mass:
    57359 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for CYP2R1 Gene

neXtProt entry for CYP2R1 Gene

Proteomics data for CYP2R1 Gene at MOPED

Post-translational modifications for CYP2R1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP2R1 Gene

Antibody Products

No data available for DME Specific Peptides for CYP2R1 Gene

Domains for CYP2R1 Gene

Gene Families for CYP2R1 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Protein Domains for CYP2R1 Gene

Suggested Antigen Peptide Sequences for CYP2R1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6VVX0

UniProtKB/Swiss-Prot:

CP2R1_HUMAN :
  • Q6VVX0
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP2R1: view

Function for CYP2R1 Gene

Molecular function for CYP2R1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.67 uM for vitamin D(2) {ECO:0000269 PubMed:15465040, ECO:0000269 PubMed:18511070}; KM=0.45 uM for vitamin D(3) {ECO:0000269 PubMed:15465040, ECO:0000269 PubMed:18511070};
UniProtKB/Swiss-Prot CatalyticActivity:
Calciol + O(2) + NADPH = calcidiol + NADP(+) H(2)O.
UniProtKB/Swiss-Prot Function:
Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).

Enzyme Numbers (IUBMB) for CYP2R1 Gene

Gene Ontology (GO) - Molecular Function for CYP2R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity --
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity IBA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen IBA --
genes like me logo Genes that share ontologies with CYP2R1: view

Animal Model Products

miRNA for CYP2R1 Gene

miRTarBase miRNAs that target CYP2R1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP2R1

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CYP2R1 Gene

Localization for CYP2R1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP2R1 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP2R1 Gene COMPARTMENTS Subcellular localization image for CYP2R1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CYP2R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with CYP2R1: view

Pathways for CYP2R1 Gene

genes like me logo Genes that share pathways with CYP2R1: view

Pathways by source for CYP2R1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for CYP2R1 Gene

Gene Ontology (GO) - Biological Process for CYP2R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006082 organic acid metabolic process IBA --
GO:0006766 vitamin metabolic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0008202 steroid metabolic process TAS --
GO:0010164 response to cesium ion IEA --
genes like me logo Genes that share ontologies with CYP2R1: view

Compounds for CYP2R1 Gene

(6) HMDB Compounds for CYP2R1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Ergocalciferol
  • (+)-Vitamin D2
50-14-6
Heme
  • (protoporphyrinato)iron
14875-96-8
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6

(2) Drugbank Compounds for CYP2R1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cholecalciferol
  • (+)-vitamin D3
67-97-0 enzyme substrate
Ergocalciferol
  • Synthetic Vitamin D
50-14-6 enzyme substrate

(2) Novoseek inferred chemical compound relationships for CYP2R1 Gene

Compound -log(P) Hits PubMed IDs
25-hydroxyvitamin d 74.1 2
vitamin d 69.7 8
genes like me logo Genes that share compounds with CYP2R1: view

Transcripts for CYP2R1 Gene

Unigene Clusters for CYP2R1 Gene

Cytochrome P450, family 2, subfamily R, polypeptide 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP2R1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP2R1 Gene

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: - - - - - -
SP6: - -
SP7: -
SP8: - - -

Relevant External Links for CYP2R1 Gene

GeneLoc Exon Structure for
CYP2R1
ECgene alternative splicing isoforms for
CYP2R1

Expression for CYP2R1 Gene

mRNA expression in normal human tissues for CYP2R1 Gene

Protein differential expression in normal tissues for CYP2R1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CYP2R1 Gene

SOURCE GeneReport for Unigene cluster for CYP2R1 Gene Hs.371427

genes like me logo Genes that share expressions with CYP2R1: view

Expression partners for CYP2R1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CYP2R1 Gene

Orthologs for CYP2R1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYP2R1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CYP2R1 35
  • 89.89 (n)
  • 90.33 (a)
CYP2R1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP2R1 35
  • 93.04 (n)
  • 94.99 (a)
CYP2R1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp2r1 35
  • 89.89 (n)
  • 90.53 (a)
Cyp2r1 16
Cyp2r1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC451042 35
  • 99.47 (n)
  • 99.4 (a)
CYP2R1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp2r1 35
  • 91.29 (n)
  • 90.45 (a)
oppossum
(Monodelphis domestica)
Mammalia CYP2R1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP2R1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP2R1 35
  • 78.65 (n)
  • 83.09 (a)
CYP2R1 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP2R1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp2r1 35
  • 67.94 (n)
  • 75.42 (a)
zebrafish
(Danio rerio)
Actinopterygii cyp2r1 35
  • 67.52 (n)
  • 70.79 (a)
cyp2r1 36
  • 67 (a)
OneToOne
Species with no ortholog for CYP2R1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP2R1 Gene

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

Paralogs for CYP2R1 Gene

genes like me logo Genes that share paralogs with CYP2R1: view

Variants for CYP2R1 Gene

Sequence variations from dbSNP and Humsavar for CYP2R1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1265467 -- 14,890,691(+) acagg(G/T)gcccg intron-variant
rs1268487 -- 14,890,720(+) ttttt(A/G)tattc intron-variant
rs1269769 -- 14,890,710(+) cccgg(C/G)taatt intron-variant
rs1269770 -- 14,890,751(+) caccg(G/T)gttag intron-variant
rs1993116 -- 14,888,688(-) TAGCA(C/T)GCAGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CYP2R1 Gene

Variant ID Type Subtype PubMed ID
nsv832071 CNV Loss 17160897

Relevant External Links for CYP2R1 Gene

HapMap Linkage Disequilibrium report
CYP2R1
Human Gene Mutation Database (HGMD)
CYP2R1
Locus Specific Mutation Databases (LSDB)
CYP2R1
The Human Cytochrome P450 Allele Nomenclature Database
CYP2R1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2R1 Gene

Disorders for CYP2R1 Gene

(1) OMIM Diseases for CYP2R1 Gene (608713)

UniProtKB/Swiss-Prot

CP2R1_HUMAN
  • 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. {ECO:0000269 PubMed:15128933}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CYP2R1 Gene

Relevant External Links for CYP2R1

Genetic Association Database (GAD)
CYP2R1
Human Genome Epidemiology (HuGE) Navigator
CYP2R1
genes like me logo Genes that share disorders with CYP2R1: view

No data available for Novoseek inferred disease relationships and Genatlas for CYP2R1 Gene

Publications for CYP2R1 Gene

  1. CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans. (PMID: 17607662) Ramos-Lopez E. … Badenhoop K. (Diabetes Metab. Res. Rev. 2007) 3 23 25 48
  2. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25- hydroxylase. (PMID: 15128933) Cheng J.B. … Russell D.W. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 23
  3. De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25- hydroxylase. (PMID: 12867411) Cheng J.B. … Russell D.W. (J. Biol. Chem. 2003) 2 3 4
  4. Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway. (PMID: 16600026) Wjst M. … AndrAc E. (Respir. Res. 2006) 3 48
  5. Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms. (PMID: 18476984) Ramos-Lopez E. … Louwen F. (Diabetes Obes Metab 2008) 3 48

Products for CYP2R1 Gene

Sources for CYP2R1 Gene

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