Gene Gene information from NCBI Gene database.
Entrez ID 1591
Gene name Cytochrome P450 family 24 subfamily A member 1
Gene symbol CYP24A1
Synonyms (NCBI Gene)
CP24CYP24HCAIHCINF1P450-CC24
Chromosome 20
Chromosome location 20q13.2
Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial
SNPs SNP information provided by dbSNP.
13
SNP ID Visualize variation Clinical significance Consequence
rs6068812 A>G Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs35051736 C>G,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs35873579 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant, synonymous variant
rs114368325 G>A,C Pathogenic Coding sequence variant, missense variant
rs139763321 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
192
miRTarBase ID miRNA Experiments Reference
MIRT004408 hsa-miR-125b-5p qRT-PCRLuciferase reporter assayWestern blotNorthern blot 19570947
MIRT004408 hsa-miR-125b-5p Review 20026422
MIRT004408 hsa-miR-125b-5p Reporter assay 19570947
MIRT024646 hsa-miR-215-5p Microarray 19074876
MIRT026473 hsa-miR-192-5p Microarray 19074876
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
VDR Activation 23463632
VDR Repression 9687155
VDR Unknown 19244278;19429444;21763285
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation IEP 17023519
GO:0004497 Function Monooxygenase activity IEA
GO:0005506 Function Iron ion binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
126065 2602 ENSG00000019186
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q07973
Protein name 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial (24-OHase) (Vitamin D(3) 24-hydroxylase) (EC 1.14.15.16) (Cytochrome P450 24A1) (Cytochrome P450-CC24)
Protein function A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active ho
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 58 512 Cytochrome P450 Domain
Sequence
Sequence length 514
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid biosynthesis
Metabolic pathways
Parathyroid hormone synthesis, secretion and action
MicroRNAs in cancer
  Vitamin D (calciferol) metabolism
Vitamins
Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
204
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CYP24A1-related disorder Likely pathogenic; Pathogenic rs777011420, rs2516345389, rs6068812, rs139763321 RCV004756331
RCV003393239
RCV003894819
RCV004756031
Hypercalcemia, infantile, 1 Pathogenic; Likely pathogenic rs770055617, rs988715134, rs2146489987, rs777011420, rs2516403268, rs1299109745, rs777947329, rs774967736, rs762334108, rs751526033, rs2516404261, rs2092633467, rs2516376283, rs2516405173, rs876657376
View all (11 more)
RCV005419288
RCV001780349
RCV001780908
RCV003992590
RCV002510418
RCV004594653
RCV000190576
RCV003237305
RCV003237314
RCV005030202
RCV004546871
RCV004555334
RCV004555481
RCV004555488
RCV000022526
RCV000033205
RCV000022527
RCV000033209
RCV000022528
RCV000033210
RCV000033211
RCV000778636
RCV000779350
RCV000856569
RCV005029768
RCV001280863
Muscle spasm Likely pathogenic; Pathogenic rs114368325 RCV000414890
Renal tubulopathies Likely pathogenic; Pathogenic rs1170841548 RCV006250227
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs36106327 RCV005914794
Colorectal cancer Benign; Likely benign rs566481776 RCV005907142
Infantile hypercalcemia Uncertain significance; Benign; Likely benign rs147124541, rs886056784, rs10623012, rs372687331, rs4811494, rs73913757 RCV000337120
RCV000375214
RCV000264272
RCV000293863
RCV000271140
RCV000302888
Lung cancer Likely benign rs36106327 RCV005914797
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 38195505
Adenocarcinoma Associate 19901270, 24736069, 25090635
Adenocarcinoma of Lung Associate 21169243, 24736069, 32165494, 32998690, 34323652, 35664356
Adenoma Stimulate 22511602
Adenoma Associate 26241700
Adenomyosis Associate 38195505
Arthritis Rheumatoid Associate 34925313
Asthma Associate 16600026, 19852851, 21613960, 36839181
Bone Diseases Associate 22337913
Breast Neoplasms Associate 14760115, 15863722, 16280049, 19667160, 20440542, 22480149, 22649517, 23393347, 25421379, 25736056, 31548577, 34003583