You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
CYP2R1
Vitamin D 25-hydroxylase

Protein Summary
Description
Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3). 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000334636
  • ENSP00000334592
  • ENSG00000186104
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
virus perturbation
0.85
cell type or tissue
0.73
molecular function
0.7
pathway
0.66
gene perturbation
0.61


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 186.21   (req: < 5)
Gene RIFs: 62   (req: <= 3)
Antibodies: 200   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 186.21   (req: >= 5)
Gene RIFs: 62   (req: > 3)
Antibodies: 200   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
vitamin D measurement
6
5
7
5.1
99.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
vitamin D measurement
7
5.1
99.9
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
cytochrome P450 family 2 subfamily R member 1
VGNC:6755
451042
Macaque
cytochrome P450, family 2, subfamily R, polypeptide 1
698834
Mouse
MGI:2449771
244209
Dog
cytochrome P450 family 2 subfamily R member 1
VGNC:50355
612993
Horse
cytochrome P450 family 2 subfamily R member 1
VGNC:50575
100146381
Species
Name
OMA
EggNOG
Inparanoid
Chimp
cytochrome P450 family 2 subfamily R member 1
Macaque
cytochrome P450, family 2, subfamily R, polypeptide 1
Mouse
Dog
cytochrome P450 family 2 subfamily R member 1
Horse
cytochrome P450 family 2 subfamily R member 1
Protein Structure (3 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q6VVX0-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 3 of 3
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (18)
Biological oxidations (R-HSA-211859)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 12
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Biological oxidations
Reactome
Cytochrome P450 - arranged by substrate type
Reactome
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
Reactome
Disease
Reactome
Diseases of metabolism
Name
Explore in Pharos
Explore in Source
Biological oxidations
Cytochrome P450 - arranged by substrate type
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
Disease
Diseases of metabolism
Gene Ontology Terms (17)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Traceable Author Statement (TAS)
Reactome
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (40)
1 – 10 of 40
CYP27B1
Tchem
Family: Enzyme
Novelty: 0.00147574
Score: 0.946
Data Source: STRINGDB
CYP24A1
Tchem
Family: Enzyme
Novelty: 0.00107155
Score: 0.946
Data Source: STRINGDB
POR
Tbio
Family: Enzyme
Novelty: 0.00145147
Score: 0.925
Data Source: STRINGDB
GC
Tchem
Novelty: 0.00065382
Score: 0.867
Data Source: STRINGDB
DHCR7
Tchem
Family: Enzyme
Novelty: 0.00358937
Score: 0.865
Data Source: STRINGDB
NADSYN1
Tbio
Family: Enzyme
Novelty: 0.0445844
Score: 0.839
Data Source: STRINGDB
VDR
Tclin
Family: NR
Novelty: 0.00058366
Score: 0.815
Data Source: STRINGDB
FABP9
Tbio
Novelty: 0.02254813
Score: 0.8
Data Source: STRINGDB
C10orf88
Tdark
Novelty: 0.49807003
Score: 0.669
Data Source: STRINGDB
PTH
Tbio
Novelty: 0.00003263
Score: 0.668
Data Source: STRINGDB
Publication Statistics
PubMed Score  186.21

PubMed score by year
PubTator Score  112.94

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer