Aliases for CYP2R1 Gene
Aliases for CYP2R1 Gene
External Ids for CYP2R1 Gene
- HGNC: 20580
- Entrez Gene: 120227
- Ensembl: ENSG00000186104
- OMIM: 608713
- UniProtKB: Q6VVX0
Previous GeneCards Identifiers for CYP2R1 Gene
- GC11M014938
- GC11M014863
- GC11M014876
- GC11M014581
Summaries 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).
Additional gene information for CYP2R1 Gene
- Monarch Initiative
- Search for CYP2R1 at DataMed
- Search for CYP2R1 at HumanCyc
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:
-
- 11p15.2 by HGNC
- 11p15.2 by Entrez Gene
- 11p15.2 by Ensembl
CYP2R1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for CYP2R1 Gene
Post-translational modifications for CYP2R1 Gene
Other Protein References for CYP2R1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-CYP2R1 Antibody
- GeneTex Anti-CYP2R1 antibody [N1C2]
-
Custom Antibody ServicesOriGene Antibodies for CYP2R1
- Novus Biologicals Antibodies for CYP2R1
-
Abcam antibodies for CYP2R1
- Invitrogen Antibodies for CYP2R1 (AFLGC-CYP2R1)
- antibodies-online: Search results for 71 available CYP2R1 Antibodies ranked by validation data
- Compare Top CYP2R1 Antibodies
-
Recommended
- 51 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 35 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
- 6 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
Protein Products
- Atlas Antibodies PrEST Antigen CYP2R1
-
OriGene Purified Proteins for CYP2R1
- Search Origene for MassSpec and Protein Over-expression Lysates for CYP2R1
- Origene Custom Protein Services for CYP2R1
-
Abcam proteins for CYP2R1
Assay Products
- Aviva Systems Biology Cytochrome P450 2R1 Colorimetric Cell-Based ELISA Kit (OKAG01438) and CYP2R1 ELISA Kit (Human) (OKCA00859)
-
Boster Bio ELISA Kits for CYP2R1
-
Abcam assays for CYP2R1
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
- Blocks:
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the cytochrome P450 family.
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
| 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 |
Phenotypes for CYP2R1 Gene
- MGI mutant phenotypes for CYP2R1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CYP2R1:
-
- Decreased viability ratio
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in esophageal squamous lineage
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability with TRAIL
- Decreased viability
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased hepcidin::fluc mRNA expression
Animal Models for CYP2R1 Gene
- MGI Knock Outs for CYP2R1:
-
- Cyp2r1 Cyp2r1<tm1(KOMP)Vlcg>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CYP2R1
-
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CYP2R1 - Now 50% OFF >
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-
OriGene CRISPR knockouts for CYP2R1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP2R1
- genomics-online: gRNA clones - Search results for available CYP2R1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP2R1
miRNA for CYP2R1 Gene
- miRTarBase miRNAs that target CYP2R1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CYP2R1
- Browse OriGene Inhibitory RNA Products For CYP2R1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2R1
- genomics-online: shRNA clones - Search results for available CYP2R1 gene related products
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
-
- MG220120
- MR220120
- MR220120L1
- MR220120L1V
- MR220120L2
- MR220120L2V
- MR220120L3
- MR220120L3V
- MR220120L4
- MR220120L4V
- RC211200
- RC211200L1
- RC211200L1V
- RC211200L2
- RC211200L2V
- RC211200L3
- RC211200L3V
- RC211200L4
- RC211200L4V
- RC511200
- RG211200
- RR212173
- RR212173L1
- RR212173L1V
- RR212173L2
- RR212173L2V
- RR212173L3
- RR212173L3V
- RR212173L4
- RR212173L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CYP2R1
- Addgene plasmids for CYP2R1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP2R1
- genomics-online: cdna clones - Search results for available CYP2R1 gene related products
- orf clones - Search results for available CYP2R1 gene related products
Cell Line Products
-
Horizon Cell Lines for CYP2R1
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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| extracellular | 3 |
| mitochondrion | 1 |
| nucleus | 1 |
| golgi apparatus | 1 |
| lysosome | 0 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP2R1 Gene
Pathways & Interactions for CYP2R1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type |
.01
|
|
| 2 | Metabolism |
.40
|
|
| 3 | Metabolism of fat-soluble vitamins | ||
| 4 | cholesterol biosynthesis II (via 24,25-dihydrolanosterol) | ||
| 5 | Metabolism of water-soluble vitamins and cofactors | ||
Pathways by source for CYP2R1 Gene
3 BioSystems pathways for CYP2R1 Gene
8 Reactome pathways for CYP2R1 Gene
2 KEGG pathways for CYP2R1 Gene
1 GeneGo (Thomson Reuters) pathway for CYP2R1 Gene
UniProtKB/Swiss-Prot Q6VVX0-CP2R1_HUMAN
- Pathway: Hormone biosynthesis; vitamin D biosynthesis.
Interacting Proteins for CYP2R1 Gene
GPS-Prot Interaction Network for CYP2R1
| 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 | -- |
No data available for SIGNOR curated interactions for CYP2R1 Gene
Drugs & Compounds for CYP2R1 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Hydrogen Ion |
|
|
||||
| NADP |
|
53-59-8 |
|
|||
| nadph |
|
53-57-6 |
|
Drug Products
- Atlas Antibodies PrEST Antigen CYP2R1
Transcripts for CYP2R1 Gene
mRNA/cDNA for CYP2R1 Gene
- (1) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (97) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000334636 2235 bps (ENST00000334636.9)
- ENST00000532805 2325 bps (ENST00000532805.1)
- ENST00000530609 1882 bps (ENST00000530609.5)
- ENST00000534686 1668 bps (ENST00000534686.5)
- ENST00000525015 446 bps (ENST00000525015.1)
Unigene Clusters for CYP2R1 Gene
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CYP2R1 - Now 50% OFF >
- * CYP2R1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CYP2R1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for CYP2R1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP2R1
- genomics-online: gRNA clones - Search results for available CYP2R1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP2R1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CYP2R1
- Browse OriGene Inhibitory RNA Products For CYP2R1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2R1
- genomics-online: shRNA clones - Search results for available CYP2R1 gene related products
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
-
- MG220120
- MR220120
- MR220120L1
- MR220120L1V
- MR220120L2
- MR220120L2V
- MR220120L3
- MR220120L3V
- MR220120L4
- MR220120L4V
- RC211200
- RC211200L1
- RC211200L1V
- RC211200L2
- RC211200L2V
- RC211200L3
- RC211200L3V
- RC211200L4
- RC211200L4V
- RC511200
- RG211200
- RR212173
- RR212173L1
- RR212173L1V
- RR212173L2
- RR212173L2V
- RR212173L3
- RR212173L3V
- RR212173L4
- RR212173L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CYP2R1
- Addgene plasmids for CYP2R1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP2R1
- genomics-online: cdna clones - Search results for available CYP2R1 gene related products
- orf clones - Search results for available CYP2R1 gene related products
| 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: | - | - | - |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CYP2R1 Gene:
CYP2R1SOURCE GeneReport for Unigene cluster for CYP2R1 Gene:
Hs.371427Evidence 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
Primer Products
-
OriGene qPCR primer pairs for CYP2R1
-
OriGene qPCR primer pairs and template standards for CYP2R1
- genomics-online: primer clones - Search results for available CYP2R1 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LOC451042 34 |
|
||
| CYP2R1 35 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | CYP2R1 35 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cyp2r1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cyp2r1 17 35 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CYP2R1 35 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CYP2R1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CYP2R1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CYP2R1 35 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CYP2R1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cyp2r1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cyp2r1 35 34 |
|
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
Paralogs for CYP2R1 Gene
(32) SIMAP similar genes for CYP2R1 Gene using alignment to 4 proteins:
- CP2R1_HUMAN
- E9PJT9_HUMAN
- E9PS56_HUMAN
- K7EMQ4_HUMAN
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3578250 | CNV | gain | 25503493 |
| esv3625429 | CNV | gain | 21293372 |
| esv3891931 | CNV | loss | 25118596 |
| nsv832071 | CNV | loss | 17160897 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2R1 Gene
Disorders for CYP2R1 Gene
(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 |
|
|
| hypocalcemic vitamin d-dependent rickets |
|
|
| rickets |
|
|
Search CYP2R1 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for CYP2R1 Gene
Publications for CYP2R1 Gene
- 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
- 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
- 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
- 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
- Cytochromes P450 are essential players in the vitamin D signaling system. (PMID: 20619365) Schuster I (Biochimica et biophysica acta 2011) 3 26 58
ExternalLinks
Products for CYP2R1 Gene
- Custom Antibody ServicesOriGene Antibodies for CYP2R1
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- RC211200L4
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- RC511200
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- RR212173
- RR212173L1
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- antibodies-online: Search results for 71 available CYP2R1 Antibodies ranked by validation data
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- 51 WB Antibodies (anti-human)
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- 12 IF (p) Antibodies (anti-rat)
- 6 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- antibodies-online: Search results for 2 available CYP2R1 Elisa Kits ranked by validation data
- Compare Top CYP2R1 Elisa Kits
- Recommended
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- Compare Top CYP2R1 Proteins
- Horizon Cell Lines for CYP2R1
- genomics-online: cdna clones - Search results for available CYP2R1 gene related products
- orf clones - Search results for available CYP2R1 gene related products
- genomics-online: gRNA clones - Search results for available CYP2R1 gene related products
- genomics-online: primer clones - Search results for available CYP2R1 gene related products
- genomics-online: shRNA clones - Search results for available CYP2R1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP2R1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP2R1
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- Browse Boster Bio Antibodies
- Boster Bio ELISA Kits for CYP2R1
Sources for CYP2R1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) HGMD
- (45) GAD
- (46) BGMUT
- (47) HuGE
- (48) Atlas
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) OCA
- (69) Proteopedia
- (70) MOPED
- (71) neXtProt
- (72) Reactome
- (73) GeneGo (Thomson Reuters)
- (74) fRNAdb
- (75) DISEASES
- (76) SIMAP
- (77) GenomeRNAi
- (78) LifeMap
- (79) miRTarBase
- (80) MalaCards
- (81) Invitrogen
- (82) BitterDB
- (83) ESI-BIO
- (84) RefSeq
- (85) BioSystems
- (86) MaxQB
- (87) IUPHAR
- (88) BioGPS
- (89) Illumina
- (90) COMPARTMENTS
- (91) HOMER
- (92) PaxDb
- (93) ApexBio
- (94) Addgene
- (95) antibodies-online
- (96) CYP
- (97) NONCODE
- (98) SwitchGear Genomics
- (99) TreeFam
- (100) PathCards
- (101) GeneReviews
- (102) GeneTex
- (103) Taconic Biosciences
- (104) GTEx
- (105) ProteomicsDB
- (106) SCBT
- (107) DGIdb
- (108) ClinicalTrials
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- (112) diseasecard
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- (145) Gene ORGANizer
- (146) abm
- (147) CrownBio
- (148) Human Protein Atlas
- (149) GWAS Catalog
- (150) Monarch Initiative
- (151) DataMed
- (152) HumanCyc
- (153) genomics-online
- (154) UCNEbase
- (155) EPDnew
- (156) Applied Biosystems
- (157) GlyConnect
- (158) Aminode
- (159) GeneCopoeia
- (160) GPS-Prot
- (161) RNACentral
- (162) LncRNADisease
- (163) LOVD
- (164) miR2Disease
- (165) DiseaseEnhancer
- (166) Boster Bio
- (167) Biorbyt
- (168) Biocompare
- (169) Mastermind