CYP24A1 (cytochrome P450 family 24 subfamily A member 1)

2003-02-01  

Identity

HGNC
LOCATION
20q13.2
LOCUSID
ALIAS
CP24,CYP24,HCAI,HCINF1,P450-CC24
FUSION GENES

Other Information

Locus ID:

NCBI: 1591
MIM: 126065
HGNC: 2602
Ensembl: ENSG00000019186

Variants:

dbSNP: 1591
ClinVar: 1591
TCGA: ENSG00000019186
COSMIC: CYP24A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000019186ENST00000216862Q07973
ENSG00000019186ENST00000395954Q07973
ENSG00000019186ENST00000395955Q07973

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Steroid biosynthesisKEGGko00100
Steroid biosynthesisKEGGhsa00100
Metabolic pathwaysKEGGhsa01100
MicroRNAs in cancerKEGGhsa05206
MicroRNAs in cancerKEGGko05206
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
PA162263533nephrotoxicityDiseaseClinicalAnnotationassociatedPD31619748
PA164760843deferasiroxChemicalClinicalAnnotationassociatedPK29099735, 29160302
PA165958354telaprevirChemicalClinicalAnnotationassociatedPK26158282
PA166201941tenofovir disoproxil fumarateChemicalClinicalAnnotationassociatedPD31619748
PA444445Hepatitis CDiseaseClinicalAnnotationassociatedPK26158282
PA446432beta-ThalassemiaDiseaseClinicalAnnotationassociatedPK29099735, 29160302
PA447230HIV InfectionsDiseaseClinicalAnnotationassociatedPD31619748

References

Pubmed IDYearTitleCitations
205412522010Common genetic determinants of vitamin D insufficiency: a genome-wide association study.465
216759122011Mutations in CYP24A1 and idiopathic infantile hypercalcemia.121
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
214414432011Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes.77
192375422009Placenta-specific methylation of the vitamin D 24-hydroxylase gene: implications for feedback autoregulation of active vitamin D levels at the fetomaternal interface.75
192550642009Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.70
192550642009Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.70
156304582005Possible involvement of pregnane X receptor-enhanced CYP24 expression in drug-induced osteomalacia.69
208318232010Alterations in Vitamin D signalling and metabolic pathways in breast cancer progression: a study of VDR, CYP27B1 and CYP24A1 expression in benign and malignant breast lesions.62
159190922005Spatio-temporal activation of chromatin on the human CYP24 gene promoter in the presence of 1alpha,25-Dihydroxyvitamin D3.60

Citation

Dessen P

CYP24A1 (cytochrome P450 family 24 subfamily A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40239/cyp24a1