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Aliases for CYP2R1 Gene

Aliases for CYP2R1 Gene

  • Cytochrome P450 Family 2 Subfamily R Member 1 2 3 5
  • Cytochrome P450, Family 2, Subfamily R, Polypeptide 1 2
  • Cytochrome P450 2R1 4
  • EC 1.14.14.24 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 Member 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 Cytochrome P450 - arranged by substrate type and Metabolism. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP2J2.

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

Enhancers for CYP2R1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F014380 0.8 Ensembl ENCODE 25.4 +512.7 512706 1.5 ZFP64 KLF17 SIN3A ZNF48 ZNF2 YY1 ZNF121 ZNF354C ZNF680 ZNF654 COPB1 CYP2R1 RRAS2 LOC105376670
GH11F014382 0.8 ENCODE 25.4 +512.0 511951 0.0 ZFP64 ZNF140 ZNF266 ZNF101 ZNF664 ZNF121 ZNF354C ZNF19 ZNF433 ZNF654 COPB1 CYP2R1 RRAS2 LOC105376670
GH11F014359 0.2 ENCODE 14.7 +534.1 534085 0.2 INSM2 KLF17 SIN3A ZNF2 ZNF48 ZEB1 YY1 ZNF335 ZNF391 ZNF280D COPB1 CYP2R1 RRAS2 ENSG00000254418
GH11F014357 0.6 ENCODE 14.7 +535.5 535499 2.6 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 GLIS2 ZNF143 COPB1 RRAS2 CYP2R1 ENSG00000254418
GH11F014334 1 Ensembl ENCODE 14.7 +554.8 554844 9.2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 ZNF207 FOS COPB1 CYP2R1 RRAS2 ENSG00000254418
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CYP2R1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP2R1 Gene

Chromosome:
11
Start:
14,877,436 bp from pter
End:
14,894,034 bp from pter
Size:
16,599 bases
Orientation:
Minus strand

Genomic View for CYP2R1 Gene

Genes around CYP2R1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP2R1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for CYP2R1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CYP2R1 Gene

Domains & Families for CYP2R1 Gene

Gene Families for CYP2R1 Gene

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 :
  • Belongs to the cytochrome P450 family.
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) + [reduced NADPH--hemoprotein reductase] = calcidiol + [oxidized NADPH--hemoprotein reductase] + 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:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity IBA --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with CYP2R1: view
genes like me logo Genes that share phenotypes with CYP2R1: view

Human Phenotype Ontology for CYP2R1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CYP2R1 Gene

miRTarBase miRNAs that target CYP2R1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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
vacuole 1

Gene Ontology (GO) - Cellular Components for CYP2R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0031090 organelle membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with CYP2R1: view

Pathways & Interactions for CYP2R1 Gene

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

Pathways by source for CYP2R1 Gene

Gene Ontology (GO) - Biological Process for CYP2R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0010038 response to metal ion IEA --
GO:0010164 response to cesium ion IEA --
GO:0010212 response to ionizing radiation IEA --
GO:0036378 calcitriol biosynthetic process from calciol IEA --
genes like me logo Genes that share ontologies with CYP2R1: view

No data available for SIGNOR curated interactions for CYP2R1 Gene

Drugs & Compounds for CYP2R1 Gene

(8) Drugs for CYP2R1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cholecalciferol Approved Nutra Enzyme, substrate Fat-soluble secosteroids 851,845
Ergocalciferol Approved Nutra Enzyme, substrate 1232
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
Calcidiol Approved Nutra 0

(4) Additional Compounds for CYP2R1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
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:

Inhibitory RNA 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 from HIPED for CYP2R1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP2R1 Gene



Protein tissue co-expression partners for CYP2R1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYP2R1 Gene:

CYP2R1

SOURCE GeneReport for Unigene cluster for CYP2R1 Gene:

Hs.371427
genes like me logo Genes that share expression patterns with CYP2R1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia LOC451042 34
  • 99.47 (n)
CYP2R1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP2R1 34 35
  • 93.04 (n)
rat
(Rattus norvegicus)
Mammalia Cyp2r1 34
  • 91.29 (n)
cow
(Bos Taurus)
Mammalia CYP2R1 34 35
  • 89.89 (n)
mouse
(Mus musculus)
Mammalia Cyp2r1 34 16 35
  • 89.89 (n)
oppossum
(Monodelphis domestica)
Mammalia CYP2R1 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP2R1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP2R1 34 35
  • 78.65 (n)
lizard
(Anolis carolinensis)
Reptilia CYP2R1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp2r1 34
  • 67.94 (n)
zebrafish
(Danio rerio)
Actinopterygii cyp2r1 34 35
  • 67.52 (n)
Species where no ortholog for CYP2R1 was found in the sources mined by GeneCards:
  • 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

Variants for CYP2R1 Gene

Sequence variations from dbSNP and Humsavar for CYP2R1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs61495246 Rickets vitamin D-dependent 1B (VDDR1B) [MIM:600081], Pathogenic 14,885,847(-) ATGCC(C/T)TGTTC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs782503732 Uncertain significance 14,880,284(+) TGATC(C/T)ATCTC nc-transcript-variant, reference, missense
rs10500804 -- 14,888,727(+) TCATC(G/T)TTTTC intron-variant, utr-variant-5-prime
rs10741657 -- 14,893,332(+) CAGGC(A/G)AGGGC upstream-variant-2KB, utr-variant-5-prime
rs10766196 -- 14,891,585(+) CGTGC(A/G)GCTTC intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv3578250 CNV gain 25503493
esv3625429 CNV gain 21293372
esv3891931 CNV loss 25118596
nsv832071 CNV loss 17160897

Variation tolerance for CYP2R1 Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP2R1 Gene

Human Gene Mutation Database (HGMD)
CYP2R1
The Human Cytochrome P450 Allele Nomenclature Database
CYP2R1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP2R1

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

Disorders for CYP2R1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CYP2R1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
rickets due to defect in vitamin d 25-hydroxylation
  • vitamin d-dependent rickets type ib
hypocalcemic vitamin d-dependent rickets
  • 1-alpha-hydroxylase deficiency
rickets
  • active rickets
- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:25942481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYP2R1

Genetic Association Database (GAD)
CYP2R1
Human Genome Epidemiology (HuGE) Navigator
CYP2R1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP2R1
genes like me logo Genes that share disorders with CYP2R1: view

No data available for 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 22 25 46 64
  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 22 64
  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 64
  4. CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. (PMID: 25942481) Thacher T.D. … Levine M.A. (J. Clin. Endocrinol. Metab. 2015) 3 4 64
  5. Cytochromes P450 are essential players in the vitamin D signaling system. (PMID: 20619365) Schuster I. (Biochim. Biophys. Acta 2011) 3 25 64

Products for CYP2R1 Gene

Sources for CYP2R1 Gene

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