CYP2R1 (cytochrome P450 family 2 subfamily R member 1)

2013-11-01  

Identity

HGNC
CYP2R1
LOCATION
11p15.2
LOCUSID
120227
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 120227
MIM: 608713
HGNC: 20580
Ensembl: ENSG00000186104

Variants:

dbSNP: 120227
ClinVar: 120227
TCGA: ENSG00000186104
COSMIC: CYP2R1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186104ENST00000334636Q6VVX0
ENSG00000186104ENST00000525015K7EMQ4
ENSG00000186104ENST00000530609E9PS56
ENSG00000186104ENST00000532378E9PJT9
ENSG00000186104ENST00000532805E9PS56
ENSG00000186104ENST00000534686E9PS56

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Steroid biosynthesisKEGGko00100
Steroid biosynthesisKEGGhsa00100
Metabolic pathwaysKEGGhsa01100
Cholecalciferol biosynthesisKEGGhsa_M00103
Cholecalciferol biosynthesisKEGGM00103
MetabolismREACTOMER-HSA-1430728
Vitamin D (calciferol) metabolismREACTOMER-HSA-196791
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
VitaminsREACTOMER-HSA-211916
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164745614calcidiolChemicalMultilinkAnnotationassociated26661839
PA164784024peginterferon alfa-2bChemicalClinicalAnnotationassociatedPD
PA446863Hepatitis C, ChronicDiseaseClinicalAnnotationassociatedPD
PA451241ribavirinChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
205412522010Common genetic determinants of vitamin D insufficiency: a genome-wide association study.465
204184852010Genome-wide association study of circulating vitamin D levels.264
249742522014Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study.93
214414432011Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes.77
206193652011Cytochromes P450 are essential players in the vitamin D signaling system.73
128674112003De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase.68
176076622007CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans.48
176076622007CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans.48
208092792010Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects.45
208092792010Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects.45

Citation

Dessen P

CYP2R1 (cytochrome P450 family 2 subfamily R member 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/gene/53609/cyp2r1