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FLASH GENE
Symbol CYP2R1 contributors: mct - updated : 29-04-2014
HGNC name cytochrome P450, family 2, subfamily R, polypeptide 1
HGNC id 20580
Corresponding disease
VDHR 25-Hydroxyvitamin D3 deficiency
Location 11p15.2      Physical location : 14.899.557 - 14.913.751
Synonym name
  • vitamin D 25-hydroxylase
  • cytochrome P450, family 2, R1
  • Synonym symbol(s) MGC4663
    EC.number 1.14.14.-/ 1.14.13.159
    DNA
    TYPE functioning gene
    STRUCTURE 14.32 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1633 - 501 - 2008 18511070
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Mus musculus
    Lymphoid/Immunespleen    
    Reproductivemale systemtestis  moderately Mus musculus
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveLeydig cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Cyp2r1
    Homologene
    FAMILY cytochrome P450 family
    CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • monooxygenase activity
  • involved in the transcriptional activation of the vitamin D receptor when either vitamin D2 or D3 was added to the medium
  • is the major but not exclusive 25-hydroxylase, but clearly a second enzyme is another contributor to this important step in vitamin D activation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) VDHR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in endometrial carcinoma, correlated directly with nuclear VDR levels, an indicator of ligand-induced VDR activation
    tumoral     --over  
    in renal cell carcinoma
    constitutional     --low  
    in hypospermatogenesis and Sertoli-cell-only syndrome
    Susceptibility
  • to vitamin D response variation in postmenopausal women
  • type 1 diabetes
  • to vitamin D insufficiency, and multiple sclerosis
  • Variant & Polymorphism other
  • DNA methylation levels of CYP2R1 predict vitamin D response variation in postmenopausal women
  • association of CYP2R1 polymorphisms in patients with type 1 diabetes and with their circulating levels of 25(OH)D3 (PMI: 17607662)
  • rs117913124 associated with an increased risk of vitamin D insufficiency, and increased odds of multiple sclerosis (
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS