CYP2R1 (cytochrome P450 family 2 subfamily R member 1)

2013-11-01  

Identity

HGNC
LOCATION
11p15.2
LOCUSID
ALIAS
-
FUSION GENES

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

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

PharmGKB

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

References

Pubmed IDYearTitleCitations
386321602024Gene expression profiling of vitamin D metabolism enzymes in leukemia and lymphoma patients: molecular aspect interplay of VDR, CYP2R1, and CYP24A1.1
387325232024Relationship between Vitamin D3 Deficiency, Metabolic Syndrome and VDR, GC, and CYP2R1 Gene Polymorphisms.1
386321602024Gene expression profiling of vitamin D metabolism enzymes in leukemia and lymphoma patients: molecular aspect interplay of VDR, CYP2R1, and CYP24A1.1
387325232024Relationship between Vitamin D3 Deficiency, Metabolic Syndrome and VDR, GC, and CYP2R1 Gene Polymorphisms.1
374957562023Biomarkers of ulcerative colitis disease activity CXCL1, CYP2R1, LPCAT1, and NEU4 and their relationship to immune infiltrates.0
376756922023Correlation of CYP2R1 gene promoter methylation with circulating vitamin D levels among healthy adults.0
378988382023Association of Single Nucleotide Polymorphism in VDR, GC Globulin and CYP2R1 with the Risk of Esophageal Cancer.0
379290212023Single nucleotide polymorphisms in vitamin D binding protein and 25-hydroxylase genes affect vitamin D levels in adolescents of Arab ethnicity in Kuwait.1
374957562023Biomarkers of ulcerative colitis disease activity CXCL1, CYP2R1, LPCAT1, and NEU4 and their relationship to immune infiltrates.0
376756922023Correlation of CYP2R1 gene promoter methylation with circulating vitamin D levels among healthy adults.0
378988382023Association of Single Nucleotide Polymorphism in VDR, GC Globulin and CYP2R1 with the Risk of Esophageal Cancer.0
379290212023Single nucleotide polymorphisms in vitamin D binding protein and 25-hydroxylase genes affect vitamin D levels in adolescents of Arab ethnicity in Kuwait.1
329382882022Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.2
349064132022The influence of CYP2R1 polymorphisms and gene-obesity interaction with hypertension risk in a Chinese rural population.1
350574422022Haplotypes in the GC, CYP2R1 and CYP24A1 Genes and Biomarkers of Bone Mineral Metabolism in Older Adults.0

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-(cytochrome-p450-family-2-subfamily-r-member-1)