CYP24A1 (cytochrome P450 family 24 subfamily A member 1)

2003-02-01  

Identity

HGNC
CYP24A1
LOCATION
20q13.2
LOCUSID
1591
ALIAS
CP24,CYP24,HCAI,HCINF1,P450-CC24
FUSION GENES
Show Gene Fusions

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
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
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
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
PA162263533nephrotoxicityDiseaseClinicalAnnotationassociatedPD31619748
PA164760843deferasiroxChemicalClinicalAnnotationassociatedPK29099735, 29160302
PA165958354telaprevirChemicalClinicalAnnotationassociatedPK26158282
PA166201941tenofovir disoproxil fumarateChemicalClinicalAnnotationassociatedPD31619748
PA444445Hepatitis CDiseaseClinicalAnnotationassociatedPK26158282
PA446432beta-ThalassemiaDiseaseClinicalAnnotationassociatedPK29099735, 29160302
PA447230HIV InfectionsDiseaseClinicalAnnotationassociatedPD31619748

References

Pubmed IDYearTitleCitations
383505532024MicroRNA-125b regulates vitamin D resistance by targeting CYP24A1 in the progression of gestational diabetes mellitus.0
385042422024Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.0
386321602024Gene expression profiling of vitamin D metabolism enzymes in leukemia and lymphoma patients: molecular aspect interplay of VDR, CYP2R1, and CYP24A1.1
388396912024Zika virus infection suppresses CYP24A1 and CAMP expression in human monocytes.0
383505532024MicroRNA-125b regulates vitamin D resistance by targeting CYP24A1 in the progression of gestational diabetes mellitus.0
385042422024Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.0
386321602024Gene expression profiling of vitamin D metabolism enzymes in leukemia and lymphoma patients: molecular aspect interplay of VDR, CYP2R1, and CYP24A1.1
388396912024Zika virus infection suppresses CYP24A1 and CAMP expression in human monocytes.0
365422092023Circular RNA Circ_0005962 Contributes to Lung Adenocarcinoma Cell Proliferation and Stem Cell Formation Through Sponging of miR-3611 and Modulating CYP24A1 Expression.0
3662542520233' Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1.0
368332342023Association of CYP24A1 Gene rs6127099 (A > T) Polymorphism with Lower Risk to COVID-19 Infection in Kazakhstan.1
369282892023Suppression of the vitamin D metabolizing enzyme CYP24A1 provides increased sensitivity to chemotherapeutic drugs in breast cancer.2
372443012023Local production of active vitamin D(3) metabolites in breast cancer cells by CYP24A1 and CYP27B1.2
374147552023USP11-mediated LSH deubiquitination inhibits ferroptosis in colorectal cancer through epigenetic activation of CYP24A1.4
376703342023Genetic polymorphisms of CYP24A1 gene and cancer susceptibility: a meta-analysis including 40640 subjects.0

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/css/lib/dataTables.bootstrap.min.css