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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024514 5 - 1633 NP_078790 - 501 - 2008 18511070

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Mus musculus Lymphoid/Immune spleen         Reproductive male system testis     moderately Mus musculus

cells

System Cell Pubmed Species Stage Rna symbol Reproductive Leydig 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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