Gene
cyp2r1
- ID
- ZDB-GENE-110114-1
- Name
- cytochrome P450, family 2, subfamily R, polypeptide 1
- Symbol
- cyp2r1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable heme binding activity and 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. Acts upstream of or within cellular response to vitamin D; hematopoietic stem cell proliferation; and vitamin D3 metabolic process. Predicted to be located in membrane. Predicted to be active in cytoplasm and intracellular membrane-bounded organelle. Is expressed in liver; muscle; ovary; and visceral fat. Used to study vitamin D-dependent rickets type 1B. Human ortholog(s) of this gene implicated in type 1 diabetes mellitus and vitamin D-dependent rickets type 1B. Orthologous to human CYP2R1 (cytochrome P450 family 2 subfamily R member 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
vitamin D-dependent rickets type 1B | Alliance | Rickets due to defect in vitamin D 25-hydroxylation deficiency | 600081 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
vitamin D-dependent rickets type 1B | cyp2r1zf734/zf734 | standard conditions | Cortes et al., 2015 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cyp2r1-201
(1)
|
Ensembl | 2,317 nt | ||
mRNA |
cyp2r1-202
(1)
|
Ensembl | 886 nt | ||
mRNA |
cyp2r1-203
(1)
|
Ensembl | 813 nt | ||
ncRNA |
cyp2r1-003
(1)
|
Ensembl | 314 nt |
Interactions and Pathways
No data available
Plasmids
No data available