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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 gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
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 cholesterol biosynthesis III (via desmosterol). 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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type |
.01
Vitamin D2 (ergocalciferol) metabolism
.01
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|
2 | Metabolism |
.40
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|
3 | Metabolism of fat-soluble vitamins | ||
4 | cholesterol biosynthesis III (via desmosterol) | ||
5 | Metabolism of water-soluble vitamins and cofactors |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Vitamin D | Approved, Vet_approved | Nutra | Enzyme, substrate | 2168 | ||
Ergocalciferol | Approved | Nutra | Enzyme, substrate | 415 | ||
Vitamin D3 | Approved | Nutra | Enzyme, substrate | Fat-soluble secosteroids | 1095,1095 | |
Peginterferon alfa-2b | Approved | Pharma | 323 | |||
Ribavirin | Approved | Pharma | 1068 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Hydrogen Ion |
|
|
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: | - | - | - |
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 |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708207 | Benign: not provided | 14,879,168(-) | G/A | SYNONYMOUS_VARIANT | |
711063 | Benign: not provided | 14,880,485(-) | A/G | SYNONYMOUS_VARIANT | |
735577 | Likely Benign: not provided | 14,880,263(-) | T/C | SYNONYMOUS_VARIANT | |
738909 | Likely Benign: not provided | 14,885,834(-) | G/A | SYNONYMOUS_VARIANT | |
739173 | Benign: not provided | 14,880,761(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3578250 | CNV | gain | 25503493 |
esv3625429 | CNV | gain | 21293372 |
esv3891931 | CNV | loss | 25118596 |
nsv832071 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
vitamin d hydroxylation-deficient rickets, type 1b |
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|
hypocalcemic vitamin d-dependent rickets |
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|
rickets |
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|
malignant choroid melanoma |
|
|
hypervitaminosis d |
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