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Aliases for CYP2R1 Gene

Aliases for CYP2R1 Gene

  • Cytochrome P450 Family 2 Subfamily R Member 1 2 3 5
  • Vitamin D 25-Hydroxylase 2 3 4
  • Cytochrome P450, Family 2, Subfamily R, Polypeptide 1 2 3
  • Cytochrome P450 2R1 3 4
  • Cytochrome P450, Family 2, R1 3
  • 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 Vitamin D Hydroxylation-Deficient Rickets, Type 1B and Hypocalcemic Vitamin D-Dependent Rickets. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Cytochrome P450 - arranged by substrate type. Gene Ontology (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

Additional gene information for CYP2R1 Gene

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

Genomics for CYP2R1 Gene

GeneHancer (GH) Regulatory Elements for CYP2R1 Gene

Promoters and enhancers for CYP2R1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J014890 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 613.4 +2.3 2333 2.6 CC2D1A SP1 ZFX MLLT1 POLR2A GTF2F1 ZNF687 FOS BACH1 MAFK CYP2R1 GC11P014892 COPB1 GC11M014875 MORF4L1P3
GH11J014894 Enhancer 1.1 FANTOM5 ENCODE 602.9 -1.3 -1250 0.9 ZFX ZKSCAN8 CEBPG GTF2F1 BACH1 TRIM24 ZNF639 SMARCA4 DPF2 CEBPA CYP2R1 COPB1 GC11P014892 CALCB GC11M014875
GH11J015075 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 11.8 -180.2 -180168 2 CTCF CEBPG ZSCAN21 ZBTB7A YY1 SP7 MZF1 RAD21 KAT8 GLIS2 CALCB COPB1 CYP2R1 CALCA INSC GC11P015078 GC11P015027
GH11J015792 Enhancer 0.8 Ensembl ENCODE dbSUPER 13.8 -899.6 -899647 3 FOS ZNF707 JUN CYP2R1 GC11P015776 LINC02682
GH11J015864 Enhancer 0.7 Ensembl ENCODE 11.7 -970.7 -970664 2.6 CEBPB RCOR1 FEZF1 ZNF701 CYP2R1 LINC02682 GC11P015776
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP2R1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP2R1 gene promoter:
  • AREB6
  • FOXO3b
  • HNF-1
  • HNF-1A
  • HNF-3beta
  • NF-1
  • Pbx1a
  • POU6F1 (c2)
  • RelA
  • S8

Genomic Locations for CYP2R1 Gene

Genomic Locations for CYP2R1 Gene
chr11:14,877,436-14,894,034
(GRCh38/hg38)
Size:
16,599 bases
Orientation:
Minus strand
chr11:14,899,553-14,913,798
(GRCh37/hg19)
Size:
14,246 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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CYP2R1 Gene

Suggested Antigen Peptide Sequences for CYP2R1 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome P450 2R1 (CP2R1_HUMAN)

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 Function:
Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=calciol + O2 + reduced [NADPH--hemoprotein reductase] = calcidiol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:32903, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17933, ChEBI:CHEBI:28940, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; EC=1.14.14.24; Evidence={ECO:0000269 PubMed:12867411, ECO:0000269 PubMed:15465040, ECO:0000269 PubMed:18511070};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=O2 + reduced [NADPH--hemoprotein reductase] + vitamin D2 = 25-hydroxyvitamin D2 + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46580, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:28934, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:86319; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1alpha-hydroxyvitamin D2 + O2 + reduced [NADPH--hemoprotein reductase] = 1alpha,25-dihydroxyvitamin D2 + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46584, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:4712, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:86320; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alfacalcidol + O2 + reduced [NADPH--hemoprotein reductase] = calcitriol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:49272, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17823, ChEBI:CHEBI:31186, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; Evidence=. ;.
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};

Enzyme Numbers (IUBMB) for CYP2R1 Gene

Phenotypes From GWAS Catalog 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 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
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 21873635
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 Models for CYP2R1 Gene

MGI Knock Outs for CYP2R1:
  • Cyp2r1 Cyp2r1<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for CYP2R1 Gene

miRTarBase miRNAs that target CYP2R1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2R1

Clone Products

  • Applied Biological Materials (abm): Clones for CYP2R1 - Now 50% OFF >
  • * CYP2R1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CYP2R1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP2R1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
mitochondrion 1
nucleus 1
golgi apparatus 1
lysosome 0

Gene Ontology (GO) - Cellular Components for CYP2R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with CYP2R1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP2R1 Gene

Pathways & Interactions for CYP2R1 Gene

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

Pathways by source for CYP2R1 Gene

UniProtKB/Swiss-Prot Q6VVX0-CP2R1_HUMAN

  • Pathway: Hormone biosynthesis; vitamin D biosynthesis.

Gene Ontology (GO) - Biological Process for CYP2R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006082 organic acid metabolic process IBA 21873635
GO:0006766 vitamin metabolic process TAS --
GO:0006805 xenobiotic metabolic process IBA 21873635
GO:0010038 response to metal ion IEA --
GO:0010164 response to cesium ion 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

(20) Drugs for CYP2R1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ergocalciferol Approved Nutra Enzyme, substrate 1479
Vitamin D Approved, Vet_approved Nutra Enzyme, substrate 1988
Vitamin D3 Approved Nutra Enzyme, substrate Fat-soluble secosteroids 1009,1002
Calcium Approved Nutra 7611
Peginterferon alfa-2b Approved Pharma 319

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
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

mRNA/cDNA for CYP2R1 Gene

Unigene Clusters for CYP2R1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2R1

Clone Products

  • Applied Biological Materials (abm): Clones for CYP2R1 - Now 50% OFF >
  • * CYP2R1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CYP2R1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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

Evidence on tissue expression from TISSUES for CYP2R1 Gene

  • Liver(4.5)
  • Skin(2.2)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP2R1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • kidney
  • liver
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • red blood cell
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CYP2R1: view

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 35 34
  • 93.04 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp2r1 34
  • 91.29 (n)
mouse
(Mus musculus)
Mammalia Cyp2r1 17 35 34
  • 89.89 (n)
cow
(Bos Taurus)
Mammalia CYP2R1 35 34
  • 89.89 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYP2R1 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP2R1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP2R1 35 34
  • 78.65 (n)
OneToOne
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 35 34
  • 67.52 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for CYP2R1: view image

Paralogs for CYP2R1 Gene

(32) SIMAP similar genes for CYP2R1 Gene using alignment to 4 proteins:

  • CP2R1_HUMAN
  • E9PJT9_HUMAN
  • E9PS56_HUMAN
  • K7EMQ4_HUMAN
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 Variation AA Info Type
rs61495246 pathogenic, Vitamin d hydroxylation-deficient rickets, type 1b, Rickets vitamin D-dependent 1B (VDDR1B) [MIM:600081] 14,885,847(-) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs200183599 uncertain-significance, not specified 14,880,285(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs368317393 uncertain-significance, not specified 14,880,141(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs782153744 uncertain-significance, not specified 14,879,318(-) G/A/C coding_sequence_variant, intron_variant, missense_variant
rs782503732 uncertain-significance, not specified 14,880,284(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for CYP2R1 Gene

The Human Cytochrome P450 Allele Nomenclature Database
CYP2R1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP2R1
Human Gene Mutation Database (HGMD)
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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
vitamin d hydroxylation-deficient rickets, type 1b
  • vddr1b
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]: An autosomal recessive 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.

Additional Disease Information for CYP2R1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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/metabolism research and reviews 2007) 3 23 26 45 58
  2. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. (PMID: 15128933) Cheng JB … Russell DW (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 23 58
  3. De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase. (PMID: 12867411) Cheng JB … Russell DW (The Journal of biological chemistry 2003) 2 3 4 58
  4. CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. (PMID: 25942481) Thacher TD … Levine MA (The Journal of clinical endocrinology and metabolism 2015) 3 4 58
  5. Cytochromes P450 are essential players in the vitamin D signaling system. (PMID: 20619365) Schuster I (Biochimica et biophysica acta 2011) 3 26 58

Products for CYP2R1 Gene

Sources for CYP2R1 Gene

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