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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... See more...
Aliases for CYP2R1 Gene
Aliases for CYP2R1 Gene
External Ids for CYP2R1 Gene
- HGNC: 20580
- NCBI Entrez Gene: 120227
- Ensembl: ENSG00000186104
- OMIM®: 608713
- UniProtKB/Swiss-Prot: Q6VVX0
Previous GeneCards Identifiers for CYP2R1 Gene
- GC11M014938
- GC11M014863
- GC11M014876
- GC11M014856
- 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 Cytochrome P450 - arranged by substrate type and Vitamin D Metabolism. 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 CYP2U1.
UniProtKB/Swiss-Prot Summary for CYP2R1 Gene
-
A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D(2) and D(3) (calciol) (PubMed:12867411, PubMed:15465040, PubMed:18511070). Can metabolize vitamin D analogs/prodrugs 1alpha-hydroxyvitamin D(2) (doxercalciferol) and 1alpha-hydroxyvitamin D(3) (alfacalcidol) forming 25-hydroxy derivatives (PubMed:15465040, PubMed:18511070). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:12867411, PubMed:15465040, PubMed:18511070).
Additional gene information for CYP2R1 Gene
- HGNC (20580)
- NCBI Entrez Gene (120227)
- Ensembl (ENSG00000186104)
- OMIM® (608713)
- UniProtKB/Swiss-Prot (Q6VVX0)
- Open Targets Platform(ENSG00000186104)
- Monarch Initiative
- Search for CYP2R1 at DataMed
- Search for CYP2R1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP2R1 Gene
Genomics for CYP2R1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CYP2R1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP2R1
- 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
Latest Assembly
- chr11:14,877,440-14,898,915
- (GRCh38/hg38)
- Size:
- 21,476 bases
- Orientation:
- Minus strand
Previous Assembly
- chr11:14,898,986-14,913,777
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 14,792 bases
- Orientation:
- Minus strand
- chr11:14,899,553-14,913,798
- (GRCh37/hg19 by Ensembl)
- 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:
Antibodies for research
- LifeSpan BioSciences Cytochrome P450 2R1 / CYP2R1 Antibody
- G Biosciences Immunotag™ Cytochrome P450 2R1 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: Show 15 available CYP2R1 Antibodies ranked by validation data
- Compare Top CYP2R1 Antibodies
-
Recommended
- 53 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 37 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 12 IF (p) Antibodies (anti-rat)
- 9 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for CYP2R1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for CYP2R1
- Origene Custom Protein Services for CYP2R1
-
Abcam proteins for CYP2R1
Assay products for research
-
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
Protein Domains for CYP2R1 Gene
- InterPro:
- Blocks:
-
- E-class P450 group I signature
- 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:
- A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D(2) and D(3) (calciol) (PubMed:12867411, PubMed:15465040, PubMed:18511070). Can metabolize vitamin D analogs/prodrugs 1alpha-hydroxyvitamin D(2) (doxercalciferol) and 1alpha-hydroxyvitamin D(3) (alfacalcidol) forming 25-hydroxy derivatives (PubMed:15465040, PubMed:18511070). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:12867411, PubMed:15465040, PubMed:18511070).
- 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={ECO:0000269|PubMed:15465040, ECO:0000269|PubMed:18511070};.
- 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={ECO:0000269|PubMed:15465040, ECO:0000269|PubMed:18511070};.
- 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={ECO:0000269|PubMed:15465040};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=0.67 uM for vitamin D(2) {ECO:0000269|PubMed:15465040}; KM=0.45 uM for vitamin D(3) {ECO:0000269|PubMed:15465040}; KM=4.4 uM for vitamin D(3) {ECO:0000269|PubMed:18511070}; KM=15.8 uM for 1alpha-hydroxyvitamin D(2) {ECO:0000269|PubMed:18511070}; KM=11.3 uM for 1alpha-hydroxyvitamin D(3) {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:0004497 | monooxygenase activity | IEA | -- |
| GO:0005506 | iron ion binding | IEA,IDA | 18511070 |
| 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 | -- |
Phenotypes for CYP2R1 Gene
- MGI mutant phenotypes for CYP2R1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CYP2R1:
-
- Decreased hepcidin::fluc mRNA expression
- no effect
- Decreased viability
- Decreased viability ratio
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Decreased viability with TRAIL
Animal Models for CYP2R1 Gene
- MGI Knock Outs for CYP2R1:
-
- Cyp2r1 Cyp2r1<tm1(KOMP)Vlcg>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CYP2R1 - Starting at $85 >
- * CYP2R1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CYP2R1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP2R1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP2R1
miRNA for CYP2R1 Gene
- miRTarBase miRNAs that target CYP2R1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for CYP2R1 - Starting at $45 >
- * CYP2R1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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
Cell Lines for research
-
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 |
|---|---|
| extracellular | 3 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| 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
Vitamin D2 (ergocalciferol) metabolism
.01
|
|
| 2 | Metabolism |
.40
|
|
| 3 | Metabolism of fat-soluble vitamins | ||
| 4 | cholesterol biosynthesis III (via desmosterol) | ||
| 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
- Vitamin D2 (ergocalciferol) metabolism
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 |
|---|---|---|---|---|---|---|
| Vitamin D | Approved, Vet_approved | Nutra | Enzyme, substrate | 2279 | ||
| Ergocalciferol | Approved | Nutra | Enzyme, substrate | 430 | ||
| Vitamin D3 | Approved | Nutra | Enzyme, substrate | Fat-soluble secosteroids | 1139,1139 | |
| Peginterferon alfa-2b | Approved | Pharma | 323 | |||
| Ribavirin | Approved | Pharma | 1081 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Hydrogen Ion |
|
|
Transcripts for CYP2R1 Gene
mRNA/cDNA for CYP2R1 Gene
- 6 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000334636 2214 nts (view in UCSC)
- ENST00000525015 446 nts (view in UCSC)
- ENST00000526276 725 nts (view in UCSC)
- ENST00000526489 876 nts (view in UCSC)
- ENST00000529043 482 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CYP2R1 - Starting at $85 >
- * CYP2R1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CYP2R1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP2R1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP2R1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for CYP2R1 - Starting at $45 >
- * CYP2R1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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
| 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
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP2R1
SOURCE GeneReport for Unigene cluster for CYP2R1 Gene:
Hs.371427Evidence on tissue expression from TISSUES for CYP2R1 Gene
- Liver(4.6)
- Kidney(2.8)
- Skin(2.6)
- Intestine(2.5)
- Thyroid gland(2.4)
- Muscle(2.1)
- Heart(2.1)
- Pancreas(2.1)
- Adrenal gland(2)
- Lymph node(2)
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 for research
-
OriGene qPCR primer pairs for CYP2R1
-
OriGene qPCR primer pairs and template standards for CYP2R1
Gene Expression Assays for research
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 30 |
|
||
| CYP2R1 31 |
|
OneToOne | |||
| Dog (Canis familiaris) |
Mammalia | CYP2R1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cyp2r1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cyp2r1 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CYP2R1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CYP2R1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CYP2R1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CYP2R1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CYP2R1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cyp2r1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cyp2r1 30 31 |
|
OneToOne |
- Species where no ortholog for CYP2R1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP2R1 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 835914 | Uncertain Significance: not provided | 14,880,621(-) |
T/C NM_024514.5(CYP2R1):c.515A>G (p.Tyr172Cys) |
MISSENSE | |
| 847396 | Uncertain Significance: not provided | 14,885,908(-) |
A/T NM_024514.5(CYP2R1):c.235T>A (p.Leu79Ile) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
| 930898 | Uncertain Significance: Vitamin d hydroxylation-deficient rickets, type 1b | 14,879,263(-) |
A/G NM_024514.5(CYP2R1):c.1181T>C (p.Ile394Thr) |
MISSENSE | |
| 934633 | Uncertain Significance: not provided | 14,880,669(-) |
G/C NM_024514.5(CYP2R1):c.467C>G (p.Ser156Cys) |
MISSENSE | |
| 936742 | Uncertain Significance: not provided | 14,880,186(-) |
T/C NM_024514.5(CYP2R1):c.950A>G (p.Asn317Ser) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2R1 Gene
Disorders for CYP2R1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| vitamin d hydroxylation-deficient rickets, type 1b |
|
|
| hypocalcemic vitamin d-dependent rickets |
|
|
| vitamin d hydroxylation-deficient rickets, type 1a |
|
|
| rickets |
|
|
| hypothyroidism, congenital, nongoitrous, 2 |
|
|
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 variants affecting the gene represented in this entry.
Additional Disease Information for CYP2R1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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 41
- 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 74
- 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 74
- 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
- Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency. (PMID: 22855339) Al Mutair AN … Russell DW (The Journal of clinical endocrinology and metabolism 2012) 3 74
ExternalLinks
Products for CYP2R1 Gene
- Custom Antibody ServicesOriGene Antibodies for CYP2R1
- Browse OriGene ELISA Kits
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- Browse OriGene miRNA Products For CYP2R1
- Sino Biological Human cDNA Clone for CYP2R1
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- VectorBuilder Virus packaging for CYP2R1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CYP2R1
- Addgene plasmids for CYP2R1
- antibodies-online: Show 15 available CYP2R1 Antibodies ranked by validation data
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- 1 IHC (p) Antibody (anti-rat)
- antibodies-online: Search results for available CYP2R1 related products ranked by validation data
- antibodies-online: Show 4 available CYP2R1 Proteins ranked by validation data
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- Horizon Cell Lines for CYP2R1
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for CYP2R1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2R1
Sources for CYP2R1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
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- (22) IntAct
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- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
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- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
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- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
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- (115) NCBI Bookshelf
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- (135) abm
- (136) Human Protein Atlas
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- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
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- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
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- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
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- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
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- (177) MirGeneDB