CYP24A1
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Also known as CP24P450-CC24lncBCAS1-4_1
Summary
CYP24A1 (cytochrome P450 family 24 subfamily A member 1, HGNC:2602) is a protein-coding gene on chromosome 20q13.2, encoding 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial (Q07973). A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis.
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 protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 1591 — RefSeq curated summary.
At a glance
- Gene–disease (curated): hypercalcemia, infantile, 1 (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 27
- Clinical variants (ClinVar): 460 total — 31 pathogenic, 23 likely-pathogenic
- Phenotypes (HPO): 15
- Druggable target: yes — 4 molecules with ChEMBL bioactivity
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
- MANE Select transcript:
NM_000782
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2602 |
| Approved symbol | CYP24A1 |
| Name | cytochrome P450 family 24 subfamily A member 1 |
| Location | 20q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CP24, P450-CC24, lncBCAS1-4_1 |
| Ensembl gene | ENSG00000019186 |
| Ensembl biotype | protein_coding |
| OMIM | 126065 |
| Entrez | 1591 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000216862, ENST00000395954, ENST00000395955, ENST00000460643, ENST00000472970, ENST00000487593, ENST00000869535, ENST00000869536, ENST00000869537
RefSeq mRNA: 6 — MANE Select: NM_000782
NM_000782, NM_001128915, NM_001424340, NM_001424341, NM_001424342, NM_001424343
CCDS: CCDS33491, CCDS46616
Canonical transcript exons
ENST00000216862 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000662846 | 54157388 | 54157585 |
| ENSE00000662847 | 54158086 | 54158164 |
| ENSE00000662848 | 54158957 | 54159123 |
| ENSE00000662849 | 54162717 | 54162862 |
| ENSE00000662850 | 54164452 | 54164563 |
| ENSE00000662851 | 54165742 | 54165833 |
| ENSE00000662852 | 54169592 | 54169688 |
| ENSE00000662853 | 54171577 | 54171670 |
| ENSE00000662854 | 54172909 | 54173099 |
| ENSE00000845669 | 54153446 | 54154761 |
| ENSE00000845670 | 54157169 | 54157289 |
| ENSE00000845671 | 54173322 | 54173986 |
Expression profiles
Bgee: expression breadth ubiquitous, 163 present calls, max score 91.53.
FANTOM5 (CAGE): breadth broad, TPM avg 4.6652 / max 635.0835, expressed in 331 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 188072 | 4.5316 | 321 |
| 188071 | 0.0554 | 23 |
| 188069 | 0.0415 | 15 |
| 188073 | 0.0367 | 14 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.53 | gold quality |
| secondary oocyte | CL:0000655 | 87.96 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.34 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 80.24 | gold quality |
| oocyte | CL:0000023 | 79.31 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 78.91 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 77.44 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 75.36 | gold quality |
| urinary bladder | UBERON:0001255 | 74.68 | gold quality |
| metanephros cortex | UBERON:0010533 | 74.23 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 73.85 | gold quality |
| gingival epithelium | UBERON:0001949 | 71.96 | silver quality |
| kidney | UBERON:0002113 | 71.88 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 71.74 | gold quality |
| esophagus mucosa | UBERON:0002469 | 69.83 | gold quality |
| gingiva | UBERON:0001828 | 68.56 | silver quality |
| palpebral conjunctiva | UBERON:0001812 | 66.99 | silver quality |
| cortex of kidney | UBERON:0001225 | 66.78 | gold quality |
| tonsil | UBERON:0002372 | 65.96 | gold quality |
| nephron tubule | UBERON:0001231 | 65.85 | silver quality |
| endocervix | UBERON:0000458 | 64.80 | gold quality |
| metanephros | UBERON:0000081 | 64.38 | gold quality |
| seminal vesicle | UBERON:0000998 | 64.09 | gold quality |
| bronchial epithelial cell | CL:0002328 | 63.22 | silver quality |
| metanephric glomerulus | UBERON:0004736 | 62.81 | silver quality |
| epithelium of bronchus | UBERON:0002031 | 61.52 | silver quality |
| bronchus | UBERON:0002185 | 61.24 | silver quality |
| mucosa of paranasal sinus | UBERON:0005030 | 61.12 | silver quality |
| placenta | UBERON:0001987 | 60.97 | gold quality |
| prefrontal cortex | UBERON:0000451 | 60.54 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.27 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1, ETS1, ETV7, HR, KAT7, NCOR2, NR1I2, NR1I3, NR2C2, RXRA, SNAI2, TBP, TP53, VDR
miRNA regulators (miRDB)
81 targeting CYP24A1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- Transcription is inhibited by genistein. (PMID:12485911)
- results suggest that 1,25-dihydroxyvitamin D3 rapid effects require the presence of vitamin D receptor and control, in part, the vitamin D catabolism via increased expression of the 24-hydroxylase and ferredoxin genes (PMID:14665637)
- Overexpression of the candidate oncogene CYP24 is inversely correlated to vitamin D receptor expression, and may play an important role in determination of the malignant potential of esophageal cancer (PMID:14760115)
- In this paper, novel metabolites of 1 alpha,25-dihydroxyvitamin D3 and 25(OH)D3 catalyzed by human enzyme CYP24A1 are presented. These metabolites appear to be closely related to the C-23 hydroxylation pathway. (PMID:15078099)
- Metabolism of A-ring diastereomers of calcitriol was examined to compare the substrate specificity and reaction specificity of CYP24A1 between humans and rats. (PMID:15358094)
- xenobiotics and drugs can modulate CYP24 gene expression and alter vitamin D(3) hormonal activity and calcium homeostasis through the activation of pregnane X receptor (PMID:15630458)
- data suggest that alternative splicing of vitamin D-24-hydroxylase (CYP24) leads to the generation of a dominant negative-acting protein that is catalytically dysfunctional and may contribute to the extracellular accumulation of 1,25-dihydroxyvitamin D (PMID:15788398)
- information concerning the regulation of the CYP24 gene by 1alpha,25OH2D3, and is a demonstration of the simultaneous participation of multiple, structurally diverse response elements in promoter activation in a living cell (PMID:15919092)
- Real-time RT-PCR showed that exposure of HL-60 cells to 1,25(OH)(2)D(3) induced expression of CYP24. (PMID:16457885)
- CYP24A1 can activate and inactivate vitamin D prodrugs in skin and other target cells in vitro (PMID:16516540)
- Haplotype association were found only for CYP24A1, the main calcidiol degrading enzyme in the vitamin D turnover or signalling pathway. (PMID:16600026)
- CYP24A1 mutant I500F showed quite a different metabolism of 1alpha,25-dihydroxyvitamin D3. (PMID:16617161)
- Data show that activation of steroid and xenobiotic receptor does not induce cytochrome P450, family 24 (CYP24)-mediated expression, but inhibits vitamin D receptor-mediated CYP24 promoter activity. (PMID:16691293)
- increased CYP24 expression in lung tumors restricts 1,25D3 activity and support the preclinical evaluation of CYP24 inhibitors for lung cancer treatment (PMID:16708384)
- The overall data suggest that calcitriol downregulates CYP27B1 expression via a cAMP-dependent signaling pathway, whereas upregulates 24-hydroxylase gene expression through a VDR-dependent mechanism. (PMID:17079137)
- CYP27B1 gene could play a functional role in the pathogenesis of type 1 diabetes through modulation of its mRNA expression and influence serum levels of 1,25(OH)(2)D(3) via the -1260 C/A polymorphism (PMID:17223345)
- local 1,25D synthesis has paracrine effects in the bone microenvironment implying that vitamin D metabolism in human osteoblasts represents a physiologically important pathway (PMID:17254772)
- differences in CYP24 splicing are associated with different patterns of CYP24 activity (PMID:17368180)
- Upstream sequence and the 5’-untranslated region of CYP24 did not appear to play a major role in the vitamin D response. (PMID:17475215)
- In conclusion, CAR/PXR and VDR bind to and transactivate the same response elements in CYP24 promoter. (PMID:17585873)
- Ala-326 is located in the I-helix, close to the terminus of the docked 25-hydroxylated side chain in a CYP24A1 homology model (PMID:17646648)
- CYP27A1 and CYP24 expression is a function of malignant transformation in the colon (PMID:17875655)
- Genotypes of CYP27B1 and CYP24A1 were not associated with prostate cancer risk. (PMID:17932346)
- It inactivate vitamin D and its expression is controlled by mechanical stress and mitogen activated protein kinase. (PMID:18467787)
- VDRE2 variant results in decreased protein binding and transactivation in vitro, and reduced expression of CYP24A1 in cultured primary human lymphocytes (PMID:18824104)
- Data show that there are both promoter-specific and cell stage-specific roles for the ERK1/2 signaling pathway on 1,25(OH)(2)D(3)-mediated CYP24 gene induction in enterocyte-like Caco-2 cells. (PMID:19097033)
- CYP24A1 gene is methylated in human placenta, purified cytotrophoblasts, and primary and cultured chorionic villus sampling tissue. (PMID:19237542)
- Single nucleotide polymorphisms may be associated with risk of prostate cancer in men with low vitamin D status. (PMID:19255064)
- These results indicate that human CYP24A1 catalyzes the C24-C25 bond cleavage of 1alpha,24,25(OH)2D2, which is quite effective in the inactivation of the active form of vitamin D2. (PMID:19393625)
- common genotypic variation found in VDR, CYP27B1, and CYP24A1 has little or no effect on overall prostate cancer risk (PMID:19454612)
- Alternative splicing of 24-OHase may lead to a catalytically dysfunctional enzyme and may lead to less reduction of the target protein (PMID:19667160)
- The CYP24A1 polymorphism IVS4-66T > G showed a statistically significant association with risk of colon cancer overall, particularly for proximal colon cancer. (PMID:19706847)
- This is the first study to correlate CYP24A1 protein levels with proliferation, suggesting that CYP24A1 overexpression counteracts the antiproliferative effect of 1,25-D3 during tumor progression. (PMID:19901270)
- 1,25-dihydroxyvitamin D3 can activate PKC zeta and that the PI3-kinase-PKC zeta cascade regulates the CYP24 promoter. (PMID:19922790)
- analysis of expression of serum vitamin D receptor, cyclooxygenase-2, and 15-hydroxyprostaglandin dehydrogenase in benign and malignant ovarian tissue and 25-hydroxycholecalciferol and prostaglandin E2 in ovarian cancer patients (PMID:20304053)
- human PBLs show only weak methylation in the upstream region of CYP27B1 and none in CYP24A1 (PMID:20304056)
- epigenetic silencing of CYP24 modulates cellular responses to calcitriol (PMID:20304059)
- analysis of CYP24A1 splicing variants in human colon cancer cell lines and tissue samples (PMID:20398751)
- 1,25D-mediated induction of human CYP24A1 is dependant upon a promoter region spanning nucleotides -470 to -392 of the human CYP24A1 promoter. (PMID:20450955)
- the number of vitamin D receptor binding sites defines the different vitamin D responsiveness of the CYP24 gene in malignant and normal mammary cells (PMID:20460683)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cyp24a1 | ENSDARG00000103277 |
| mus_musculus | Cyp24a1 | ENSMUSG00000038567 |
| rattus_norvegicus | Cyp24a1 | ENSRNOG00000013062 |
| drosophila_melanogaster | sad | FBGN0003312 |
Paralogs (3): CYP27B1 (ENSG00000111012), CYP27A1 (ENSG00000135929), CYP27C1 (ENSG00000186684)
Protein
Protein identifiers
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial — Q07973 (reviewed: Q07973)
Alternative names: Cytochrome P450 24A1, Cytochrome P450-CC24
All UniProt accessions (1): Q07973
UniProt curated annotations — full annotation on UniProt →
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 hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)). With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidation of calcitriol leading to the formation of the biliary metabolite calcitroic acid. With initial hydroxylation at C-23 (via C23-oxidation pathway), catalyzes sequential oxidation of calcidiol leading to the formation of 25(OH)D3-26,23-lactone as end product. Preferentially hydroxylates at C-25 other vitamin D active metabolites, such as CYP11A1-derived secosteroids 20S-hydroxycholecalciferol and 20S,23-dihydroxycholecalciferol. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin.
Subcellular location. Mitochondrion.
Disease relevance. Hypercalcemia, infantile, 1 (HCINF1) [MIM:143880] A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. Specifically expressed in macrophages. Lacks the transit peptide. May be a dominant negative-acting isoform possibly by sequestering vitamin D metabolites.
Similarity. Belongs to the cytochrome P450 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q07973-1 | 1 | yes |
| Q07973-2 | 2 | |
| Q07973-3 | 3, CYP24-SV |
RefSeq proteins (6): NP_000773, NP_001122387, NP_001411269, NP_001411270, NP_001411271, NP_001411272 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001128 | Cyt_P450 | Family |
| IPR002401 | Cyt_P450_E_grp-I | Family |
| IPR017972 | Cyt_P450_CS | Conserved_site |
| IPR036396 | Cyt_P450_sf | Homologous_superfamily |
| IPR050479 | CYP11_CYP27_families | Family |
Pfam: PF00067
Enzyme classification (BRENDA):
- EC 1.14.14.24 — vitamin D 25-hydroxylase (BRENDA: 7 organisms, 34 substrates, 4 inhibitors, 22 Km, 14 kcat entries)
- EC 1.14.15.16 — vitamin D3 24-hydroxylase (BRENDA: 3 organisms, 62 substrates, 46 inhibitors, 21 Km, 13 kcat entries)
Substrate kinetics (BRENDA)
15 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 1ALPHA,25-DIHYDROXYVITAMIN D3 | 0.0001–0.0011 | 11 |
| 1ALPHA-HYDROXYVITAMIN D3 | 0.0006–0.0113 | 6 |
| VITAMIN D3 | 0.0008–0.032 | 6 |
| 1ALPHA-HYDROXYVITAMIN D2 | 0.0042–0.018 | 4 |
| BUFURALOL | 0.001–0.0014 | 2 |
| VITAMIN D2 | 0.0004–0.002 | 2 |
| 25-HYDROXYVITAMIN D3 | 0.0002–0.0003 | 2 |
| CALCITRIOL | 0.0086–0.009 | 2 |
| 1ALPHA-HYDROXYCHOLECALCIFEROL | 0.054 | 1 |
| 25-HYDROXY-VITAMIN D3 | 0.0071 | 1 |
| 1ALPHA,25-DIHYDROXY-3-EPI-VITAMIN D3 | 0.0001 | 1 |
| 1BETA,25-DIHYDROXY-3-EPI-VITAMIN D3 | 0.0012 | 1 |
| 1BETA,25-DIHYDROXYVITAMIN D3 | 0.0001 | 1 |
| 2-METHYLENE-19-NOR-(20R)-1,25-DIHYDROXYVITAMIN D | 0.0003 | 1 |
| 2-METHYLENE-19-NOR-(20S)-1,25-DIHYDROXYVITAMIN D | 0.0001 | 1 |
Catalyzed reactions (Rhea), 12 shown:
- calcitriol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = calcitetrol + 2 oxidized [adrenodoxin] + H2O (RHEA:24964)
- calcidiol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = secalciferol + 2 oxidized [adrenodoxin] + H2O (RHEA:24968)
- calcitetrol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = (1S)-1,25-dihydroxy-24-oxocalciol + 2 oxidized [adrenodoxin] + 2 H2O (RHEA:24972)
- (1S)-1,25-dihydroxy-24-oxocalciol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = (1S)-1,23,25-trihydroxy-24-oxocalciol + 2 oxidized [adrenodoxin] + H2O (RHEA:24976)
- (1S)-1,23-dihydroxy-24,25,26,27-tetranorcalciol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = (1S)-1-hydroxy-23-oxo-24,25,26,27-tetranorcalciol + 2 oxidized [adrenodoxin] + 2 H2O (RHEA:24984)
- (1S)-1-hydroxy-23-oxo-24,25,26,27-tetranorcalciol + 2 reduced [adrenodoxin] + O2 + H(+) = calcitroate + 2 oxidized [adrenodoxin] + H2O (RHEA:24988)
- calcidiol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = (23S)-23,25-dihydroxycalciol + 2 oxidized [adrenodoxin] + H2O (RHEA:46616)
- calcitriol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = 1alpha,23S,25-trihydroxycholecalciferol + 2 oxidized [adrenodoxin] + H2O (RHEA:49192)
- secalciferol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = 25-hydroxy-24-oxocalciol + 2 oxidized [adrenodoxin] + 2 H2O (RHEA:49196)
- 20S-hydroxycholecalciferol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = 20S,24R-dihydroxycholecalciferol + 2 oxidized [adrenodoxin] + H2O (RHEA:49204)
- 20S-hydroxycholecalciferol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = 20S,25-dihydroxycholecalciferol + 2 oxidized [adrenodoxin] + H2O (RHEA:49212)
- 25-hydroxy-24-oxocalciol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = 23S,25-dihydroxy-24-oxocholecalciferol + 2 oxidized [adrenodoxin] + H2O (RHEA:49268)
UniProt features (20 total): sequence variant 7, sequence conflict 7, splice variant 3, transit peptide 1, chain 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q07973-F1 | 89.03 | 0.78 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 462 (axial binding residue)
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-196791 | Vitamin D (calciferol) metabolism |
| R-HSA-211916 | Vitamins |
| R-HSA-5579010 | Defective CYP24A1 causes HCAI |
MSigDB gene sets: 242 (showing top):
REACTOME_BIOLOGICAL_OXIDATIONS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, BENPORATH_ES_WITH_H3K27ME3, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_CELLULAR_RESPONSE_TO_LIPID, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_POLYOL_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_OSTEOBLAST_DIFFERENTIATION, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, NAGASHIMA_NRG1_SIGNALING_UP, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, TTGCWCAAY_CEBPB_02, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS
GO Biological Process (12): osteoblast differentiation (GO:0001649), vitamin metabolic process (GO:0006766), response to vitamin D (GO:0033280), vitamin D metabolic process (GO:0042359), vitamin D catabolic process (GO:0042369), vitamin D receptor signaling pathway (GO:0070561), alcohol metabolic process (GO:0006066), lipid metabolic process (GO:0006629), lipid biosynthetic process (GO:0008610), calcitriol biosynthetic process from calciol (GO:0036378), small molecule biosynthetic process (GO:0044283), cellular response to vitamin D (GO:0071305)
GO Molecular Function (12): iron ion binding (GO:0005506), 25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403), heme binding (GO:0020037), 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342), vitamin D 25-hydroxylase activity (GO:0030343), 25-hydroxycholecalciferol-23-hydroxylase activity (GO:0062180), 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity (GO:0062181), monooxygenase activity (GO:0004497), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705), metal ion binding (GO:0046872), vitamin D 24-hydroxylase activity (GO:0070576)
GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Metabolism of steroids | 1 |
| Cytochrome P450 - arranged by substrate type | 1 |
| Metabolic disorders of biological oxidation enzymes | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| small molecule metabolic process | 3 |
| biosynthetic process | 2 |
| vitamin D 24-hydroxylase activity | 2 |
| steroid hydroxylase activity | 2 |
| vitamin D 23-hydroxylase activity | 2 |
| oxidoreductase activity | 2 |
| ossification | 1 |
| cell differentiation | 1 |
| response to vitamin | 1 |
| response to lipid | 1 |
| response to oxygen-containing compound | 1 |
| steroid metabolic process | 1 |
| steroid catabolic process | 1 |
| vitamin D metabolic process | 1 |
| fat-soluble vitamin catabolic process | 1 |
| hormone-mediated signaling pathway | 1 |
| cellular response to vitamin D | 1 |
| nuclear receptor-mediated signaling pathway | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| vitamin D biosynthetic process | 1 |
| polyol biosynthetic process | 1 |
| vitamin D3 metabolic process | 1 |
| response to vitamin D | 1 |
| cellular response to vitamin | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| transition metal ion binding | 1 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | 1 |
| tetrapyrrole binding | 1 |
| calcitriol biosynthetic process from calciol | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
Protein interactions and networks
STRING
2026 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CYP24A1 | GC | P02774 | 897 |
| CYP24A1 | CA1 | P00915 | 879 |
| CYP24A1 | CA8 | P35219 | 870 |
| CYP24A1 | CA5B | Q9Y2D0 | 870 |
| CYP24A1 | CA13 | Q8N1Q1 | 848 |
| CYP24A1 | PTH | P01270 | 842 |
| CYP24A1 | CA5A | P35218 | 841 |
| CYP24A1 | CA14 | Q9ULX7 | 841 |
| CYP24A1 | CA7 | P43166 | 819 |
| CYP24A1 | CA6 | P23280 | 806 |
| CYP24A1 | CA12 | O43570 | 799 |
| CYP24A1 | FGF23 | Q9GZV9 | 793 |
| CYP24A1 | CA2 | P00918 | 792 |
| CYP24A1 | DHCR7 | Q9UBM7 | 783 |
| CYP24A1 | CA3 | P07451 | 779 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDUFS6 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| PTGR3 | DBT | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF764 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| UQCRFS1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.530 |
| AGMAT | DCX | psi-mi:“MI:0914”(association) | 0.500 |
| Dlg4 | CYP24A1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ECSIT | NDUFS2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF254 | TRIM24 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF785 | CASK | psi-mi:“MI:0914”(association) | 0.350 |
| PA | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| THEM5 | PRORP | psi-mi:“MI:0914”(association) | 0.350 |
| RBAK | CYP24A1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS7 | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
| FFAR1 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| TRIM43 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| QRSL1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| SHC2 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| YARS2 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS24 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| AMACR | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| ACSM5 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| RASL10B | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| AK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| FAHD1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR45 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| THEM5 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| MALSU1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (60): CYP24A1 (Affinity Capture-MS), CYP24A1 (Affinity Capture-MS), CYP24A1 (Affinity Capture-MS), CYP24A1 (Affinity Capture-MS), CYP24A1 (Synthetic Lethality), CYP24A1 (Proximity Label-MS), FZR1 (Affinity Capture-Western), CDC20 (Affinity Capture-Western), CYP24A1 (Affinity Capture-MS), CYP24A1 (Affinity Capture-MS), CYP24A1 (Affinity Capture-MS), CYP24A1 (Affinity Capture-MS), CYP24A1 (Affinity Capture-MS), CYP24A1 (Affinity Capture-MS), CYP24A1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1I9Q5Z0, A0A481NR20, A8WGA0, E1BHJ4, G3V7X8, O18635, O23051, O44220, O73853, P05093, P0DOX0, P11715, P48416, P82712, Q07973, Q09128, Q09660, Q2XVA1, Q4G0S4, Q64441, Q6JD68, Q6WG30, Q7KR10, Q811W2, Q8HYM9, Q8HYN0, Q8HYN1, Q8W4T9, Q91Z85, Q92045, Q92113, Q940V4, Q95328, Q9EPT4, Q9GLD2, Q9GMC8, Q9LUC5, Q9NGX9, Q9NR63, Q9SHG5
Diamond homologs: A0A017SFB8, A0A017SR40, A0A0C3HJL3, A0A0S2II38, A0A0U5GRB4, A0A100IM63, A0A1E3B0R7, A0A1L9WN72, A0A1L9WQP6, A0A1L9WUS5, A0A1U9YHZ8, A0A1V0QSE7, A0A2H3CNY6, A0A2H3CSA7, A0A2H3CZX2, A0A2P1DP94, A0A2Z5U6I9, A0A3Q7HBJ5, A0A516F411, A0A6J4BC30, A0A6S6QI82, A0A7T8F1L2, A1DA63, A7VMU4, A8NCK4, A8NCK6, A9QNE7, B9WZX4, C8VJR0, F1SY52, F1SY62, F1SY66, F1SY68, F1SY70, F1SY73, F1SY75, F1SY82, F1SY91, F1SY96, F1SYA2
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| VDR | “down-regulates quantity by repression” | CYP24A1 | “transcriptional regulation” |
| PTH1R | “up-regulates quantity” | CYP24A1 | |
| CYP24A1 | “up-regulates quantity” | calcitetrol | “chemical modification” |
| CYP24A1 | “down-regulates quantity” | calcitriol | “chemical modification” |
| CYP24A1 | “up-regulates quantity” | propan-2-ol | “chemical modification” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 83 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Complex I biogenesis | 6 | 17.4× | 2e-04 |
| Mitochondrial ribosome-associated quality control | 6 | 12.9× | 7e-04 |
| Fatty acid metabolism | 5 | 11.5× | 3e-03 |
| Respiratory electron transport | 6 | 10.0× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial respiratory chain complex I assembly | 5 | 27.4× | 3e-04 |
| mitochondrial electron transport, NADH to ubiquinone | 5 | 23.9× | 3e-04 |
| proton motive force-driven mitochondrial ATP synthesis | 5 | 17.6× | 1e-03 |
| aerobic respiration | 5 | 16.5× | 1e-03 |
| mitochondrial translation | 5 | 11.6× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
460 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 31 |
| Likely pathogenic | 23 |
| Uncertain significance | 210 |
| Likely benign | 80 |
| Benign | 63 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1072834 | NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter) | Pathogenic |
| 1075791 | NM_000782.5(CYP24A1):c.278del (p.Tyr93fs) | Pathogenic |
| 1179111 | GRCh37/hg19 20q13.2(chr20:52769985-52790525) | Pathogenic |
| 1442407 | NM_000782.5(CYP24A1):c.312del (p.Phe104fs) | Pathogenic |
| 1460149 | NM_000782.5(CYP24A1):c.999_1006del (p.Ser334fs) | Pathogenic |
| 1914788 | NM_000782.5(CYP24A1):c.1171_1174dup (p.Pro392fs) | Pathogenic |
| 1941936 | NM_000782.5(CYP24A1):c.1384_1385del (p.Cys462fs) | Pathogenic |
| 2111621 | NM_000782.5(CYP24A1):c.224G>A (p.Trp75Ter) | Pathogenic |
| 2159550 | NM_000782.5(CYP24A1):c.449+1G>T | Pathogenic |
| 2506936 | NM_000782.5(CYP24A1):c.641-1G>A | Pathogenic |
| 2506945 | NM_000782.5(CYP24A1):c.364G>T (p.Glu122Ter) | Pathogenic |
| 2912919 | NM_000782.5(CYP24A1):c.1022del (p.Asn341fs) | Pathogenic |
| 29675 | NM_000782.5(CYP24A1):c.1426_1427del (p.Cys477fs) | Pathogenic |
| 29677 | NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) | Pathogenic |
| 29678 | NM_000782.5(CYP24A1):c.451G>T (p.Glu151Ter) | Pathogenic |
| 2993674 | NM_000782.5(CYP24A1):c.449+2T>C | Pathogenic |
| 3234027 | NM_000782.5(CYP24A1):c.109C>T (p.Gln37Ter) | Pathogenic |
| 3236073 | NM_000782.5(CYP24A1):c.1320G>A (p.Trp440Ter) | Pathogenic |
| 3236225 | NM_000782.5(CYP24A1):c.670_673dup (p.Gly225fs) | Pathogenic |
| 3248320 | NC_000020.10:g.(?52773718)(52790118_?)del | Pathogenic |
| 3341138 | NM_000782.5(CYP24A1):c.1039del (p.Gln347fs) | Pathogenic |
| 3587448 | NM_000782.5(CYP24A1):c.845-2A>G | Pathogenic |
| 3587450 | NM_000782.5(CYP24A1):c.804G>A (p.Trp268Ter) | Pathogenic |
| 3587457 | NM_000782.5(CYP24A1):c.667A>T (p.Arg223Ter) | Pathogenic |
| 3608266 | NM_000782.5(CYP24A1):c.1497_1504del (p.Thr500fs) | Pathogenic |
| 3623870 | NM_000782.5(CYP24A1):c.1084G>T (p.Glu362Ter) | Pathogenic |
| 3642651 | NM_000782.5(CYP24A1):c.491del (p.Lys164fs) | Pathogenic |
| 3708845 | NM_000782.5(CYP24A1):c.1199del (p.Lys400fs) | Pathogenic |
| 4074266 | NM_000782.5(CYP24A1):c.1339dup (p.Ile447fs) | Pathogenic |
| 4294430 | NM_000782.5(CYP24A1):c.1410dup (p.Gln471fs) | Pathogenic |
SpliceAI
1723 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:54157163:GCTCA:G | donor_loss | 1.0000 |
| 20:54157164:CTCA:C | donor_loss | 1.0000 |
| 20:54157165:TCACC:T | donor_loss | 1.0000 |
| 20:54157166:CACCT:C | donor_loss | 1.0000 |
| 20:54157167:A:AG | donor_loss | 1.0000 |
| 20:54157168:C:T | donor_loss | 1.0000 |
| 20:54157286:CAAT:C | acceptor_gain | 1.0000 |
| 20:54157288:ATC:A | acceptor_loss | 1.0000 |
| 20:54157290:C:CC | acceptor_gain | 1.0000 |
| 20:54157290:C:CG | acceptor_loss | 1.0000 |
| 20:54157291:T:G | acceptor_loss | 1.0000 |
| 20:54157295:A:AC | acceptor_gain | 1.0000 |
| 20:54158080:ACTTA:A | donor_loss | 1.0000 |
| 20:54158082:TTA:T | donor_loss | 1.0000 |
| 20:54158084:A:AC | donor_gain | 1.0000 |
| 20:54158084:A:C | donor_loss | 1.0000 |
| 20:54158084:ACT:A | donor_gain | 1.0000 |
| 20:54158084:ACTC:A | donor_gain | 1.0000 |
| 20:54158085:C:CT | donor_gain | 1.0000 |
| 20:54158085:CT:C | donor_gain | 1.0000 |
| 20:54158085:CTC:C | donor_gain | 1.0000 |
| 20:54158085:CTCC:C | donor_gain | 1.0000 |
| 20:54158085:CTCCT:C | donor_gain | 1.0000 |
| 20:54158160:TAAGC:T | acceptor_gain | 1.0000 |
| 20:54158162:AGC:A | acceptor_gain | 1.0000 |
| 20:54158163:GC:G | acceptor_gain | 1.0000 |
| 20:54158163:GCCT:G | acceptor_loss | 1.0000 |
| 20:54158164:CC:C | acceptor_gain | 1.0000 |
| 20:54158164:CCTGA:C | acceptor_loss | 1.0000 |
| 20:54158165:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
3371 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:54172945:C:G | R138P | 0.996 |
| 20:54172958:A:G | W134R | 0.995 |
| 20:54172958:A:T | W134R | 0.995 |
| 20:54158135:C:G | R396P | 0.994 |
| 20:54157457:A:C | F455L | 0.991 |
| 20:54157457:A:T | F455L | 0.991 |
| 20:54157459:A:G | F455L | 0.991 |
| 20:54169604:A:G | W210R | 0.991 |
| 20:54169604:A:T | W210R | 0.991 |
| 20:54171644:C:G | R159P | 0.991 |
| 20:54164473:A:G | W275R | 0.990 |
| 20:54164473:A:T | W275R | 0.990 |
| 20:54172946:G:T | R138S | 0.990 |
| 20:54157442:T:A | R460S | 0.988 |
| 20:54157442:T:G | R460S | 0.988 |
| 20:54158957:C:G | R386T | 0.988 |
| 20:54164494:A:G | W268R | 0.988 |
| 20:54164494:A:T | W268R | 0.988 |
| 20:54171657:A:G | W155R | 0.988 |
| 20:54171657:A:T | W155R | 0.988 |
| 20:54158164:C:A | R386S | 0.987 |
| 20:54158164:C:G | R386S | 0.987 |
| 20:54171655:C:A | W155C | 0.987 |
| 20:54171655:C:G | W155C | 0.987 |
| 20:54157436:G:C | C462W | 0.986 |
| 20:54165832:A:C | S214R | 0.986 |
| 20:54165832:A:T | S214R | 0.986 |
| 20:54169592:T:G | S214R | 0.986 |
| 20:54157428:C:G | R465P | 0.985 |
| 20:54159112:A:C | S334R | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000010588 (20:54152489 G>A), RS1000127032 (20:54159103 C>A,T), RS1000176915 (20:54159667 G>C), RS1000190807 (20:54146530 C>T), RS1000293051 (20:54152717 GA>G), RS1000537278 (20:54174149 G>A), RS1000612850 (20:54163298 T>C), RS1000649174 (20:54153974 C>A), RS1000895799 (20:54163613 G>C), RS1001012457 (20:54164182 C>G,T), RS1001078060 (20:54174411 C>A,T), RS1001152932 (20:54158238 A>G), RS1001184296 (20:54158533 T>A,C), RS1001351315 (20:54146300 G>A,T), RS1001379856 (20:54163916 A>C)
Disease associations
OMIM: gene MIM:126065 | disease phenotypes: MIM:143880
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| hypercalcemia, infantile, 1 | Strong | Autosomal recessive |
| autosomal recessive infantile hypercalcemia | Supportive | Autosomal recessive |
Mondo (2): hypercalcemia, infantile, 1 (MONDO:0020739), (MONDO:0007749)
Orphanet (1): Autosomal recessive infantile hypercalcemia (Orphanet:300547)
HPO phenotypes
15 total (15 of 15 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000103 | Polyuria |
| HP:0000121 | Nephrocalcinosis |
| HP:0000787 | Nephrolithiasis |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001508 | Failure to thrive |
| HP:0001824 | Weight loss |
| HP:0001944 | Dehydration |
| HP:0002013 | Vomiting |
| HP:0002150 | Hypercalciuria |
| HP:0003072 | Hypercalcemia |
| HP:0003593 | Infantile onset |
| HP:0012408 | Medullary nephrocalcinosis |
| HP:0031817 | Decreased circulating parathyroid hormone level |
GWAS associations
27 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001198_43 | Multiple sclerosis | 3.000000e-11 |
| GCST001709_17 | Atopic dermatitis | 2.000000e-08 |
| GCST002201_7 | Calcium levels | 9.000000e-12 |
| GCST003262_352 | Post bronchodilator FEV1 | 3.000000e-06 |
| GCST003386_1 | Colorectal cancer (oestrogen-progestogen hormone therapy interaction) | 5.000000e-09 |
| GCST003879_1 | Serum parathyroid hormone levels | 2.000000e-10 |
| GCST003879_2 | Serum parathyroid hormone levels | 2.000000e-72 |
| GCST005366_4 | Vitamin D levels (dietary vitamin D intake interaction) | 1.000000e-14 |
| GCST005367_6 | Vitamin D levels | 8.000000e-23 |
| GCST005531_70 | Multiple sclerosis | 2.000000e-13 |
| GCST005982_15 | Calcium levels | 1.000000e-09 |
| GCST006491_19 | Circulating fibroblast growth factor 23 levels | 3.000000e-24 |
| GCST007876_52 | Estimated glomerular filtration rate | 1.000000e-17 |
| GCST007877_24 | Creatinine levels | 1.000000e-08 |
| GCST008058_160 | Estimated glomerular filtration rate | 2.000000e-46 |
| GCST008059_121 | Estimated glomerular filtration rate | 4.000000e-50 |
| GCST008062_130 | Blood urea nitrogen levels | 6.000000e-08 |
| GCST008369_19 | Plasma anti-thyroglobulin levels | 2.000000e-06 |
| GCST008745_29 | Estimated glomerular filtration rate in non-diabetics | 1.000000e-14 |
| GCST008747_121 | Estimated glomerular filtration rate | 3.000000e-25 |
| GCST008747_92 | Estimated glomerular filtration rate | 1.000000e-36 |
| GCST009597_52 | Multiple sclerosis | 2.000000e-19 |
| GCST009597_92 | Multiple sclerosis | 2.000000e-06 |
| GCST009598_18 | Kidney stones | 8.000000e-18 |
| GCST009599_12 | Kidney stones | 1.000000e-11 |
| GCST010219_21 | Attention deficit hyperactivity disorder (inattention symptoms) | 3.000000e-07 |
| GCST90011900_10 | Serum alkaline phosphatase levels | 7.000000e-09 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004838 | calcium measurement |
| EFO:0004314 | forced expiratory volume |
| EFO:0003961 | hormone replacement therapy |
| EFO:0008539 | vitamin D dietary intake measurement |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4521 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
4 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 119,592 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL157101 | KETOCONAZOLE | 4 | 75,361 |
| CHEMBL846 | CALCITRIOL | 4 | 29,522 |
| CHEMBL2105705 | LUNACALCIPOL | 2 | 73 |
| CHEMBL389433 | LIAROZOLE | 2 | 14,636 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
5 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs2248359 | Metabolism/PK | 3 | deferasirox | Beta-thalassemia and related diseases |
| rs2248359 | Toxicity | 3 | tenofovir disoproxil fumarate | HIV infectious disease;Nephrotoxicity |
| rs2585428 | Metabolism/PK | 3 | telaprevir | Hepatitis C virus infection |
| rs2585428 | Metabolism/PK | 3 | deferasirox | Beta-thalassemia and related diseases |
| rs927650 | Metabolism/PK | 3 | deferasirox | Beta-thalassemia and related diseases |
PharmGKB variants
6 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2585428 | CYP24A1 | 3 | 2.00 | 2 | deferasirox;telaprevir |
| rs2762939 | CYP24A1 | 0.00 | 0 | ||
| rs3787554 | CYP24A1 | 0.00 | 0 | ||
| rs4809957 | CYP24A1 | 0.00 | 0 | ||
| rs2248359 | CYP24A1 | 3 | 2.25 | 2 | tenofovir disoproxil fumarate;deferasirox |
| rs927650 | CYP24A1 | 3 | 1.25 | 1 | deferasirox |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — CYP24, CYP26 and CYP27 families
Most potent curated ligand interactions (3 total), top 3:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| CTA091 | Inhibition | 8.2 | pIC50 |
| lunacalcipol | Inhibition | 7.6 | pIC50 |
| compound 4d [PMID: 20655626] | Inhibition | 4.79 | pIC50 |
Binding affinities (BindingDB)
6 measured of 6 human assays (6 total across all organisms); most potent 6 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| AB47 | KI | 21 nM |
| VIMI | KI | 21 nM |
| 24F2-1,25(OH)D3 | KI | 24 nM |
| TS17 | KI | 39 nM |
| CPA1 | KI | 42 nM |
| 24COOH-25(OH)D3 | KI | 90 nM |
ChEMBL bioactivities
117 potent at pChembl≥5 of 128 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
PubChem BioAssay actives
124 with measured affinity, of 176 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 6-[(3-chlorophenyl)-imidazol-1-ylmethyl]-1H-benzimidazole | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ic50 | 0.0023 | uM |
| trans-(1R,3S,5Z)-5-[(E)-3-[3,5-bis(6-hydroxy-6-methylheptyl)phenyl]prop-2-enylidene]-4-methylidenecyclohexane-1,3-diol | 1852313: Induction of CYP24A1 (unknown orgin) transcriptional activity trasfected in human MCF7 cells incuabted for 48 hrs by luciferase reporter gene assay | ec50 | 0.0030 | uM |
| Calcitriol | 1852313: Induction of CYP24A1 (unknown orgin) transcriptional activity trasfected in human MCF7 cells incuabted for 48 hrs by luciferase reporter gene assay | ec50 | 0.0030 | uM |
| trans-(1R,3S,5Z)-5-[(E)-9-hydroxy-3-[3-(6-hydroxy-6-methylheptyl)phenyl]-9-methyldec-2-enylidene]-4-methylidenecyclohexane-1,3-diol | 1852313: Induction of CYP24A1 (unknown orgin) transcriptional activity trasfected in human MCF7 cells incuabted for 48 hrs by luciferase reporter gene assay | ec50 | 0.0056 | uM |
| trans-(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-7a-methyl-1-[(2R)-4-(phenylsulfonimidoyl)butan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ic50 | 0.0065 | uM |
| trans-(1R,3S,5Z)-5-[(2E)-2-[(7aS)-7a-methyl-1-[(2R)-4-(phenylsulfonimidoyl)butan-2-yl]-3a,5,6,7-tetrahydro-3H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol | 311066: Inhibition of CYP24 | ic50 | 0.0074 | uM |
| 4-[(E)-2-(3,5-dimethoxyphenyl)ethenyl]-N-(2-imidazol-1-yl-2-phenylethyl)benzamide | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0078 | uM |
| trans-(1R,3R)-5-[(2E)-2-[(1R,3aS,7aR)-7a-methyl-1-[(2R)-4-(phenylsulfonimidoyl)butan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]cyclohexane-1,3-diol | 282480: Inhibition of human CYP24 hydroxylase expressed in V79 cells | ic50 | 0.0097 | uM |
| N-(2-imidazol-1-yl-2-phenylethyl)-4-[(E)-2-(3,4,5-trimethoxyphenyl)ethenyl]benzamide | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0097 | uM |
| [1-[4-[(E)-2-(3,5-dimethoxyphenyl)ethenyl]phenyl]-4,4-dimethylpentan-3-yl] imidazole-1-carboxylate | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0110 | uM |
| (Z)-2-imidazol-1-yl-4,4-dimethyl-1-[4-[(E)-2-phenylethenyl]phenyl]pent-1-en-3-one | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0130 | uM |
| 1-(4-imidazol-1-ylbutyl)-4-[(E)-2-phenylethenyl]indole | 1165071: Inhibition of N-terminally MBP-fused human CYP24A1 by cell-free assay | ki | 0.0140 | uM |
| 4-[(E)-2-(3,5-dimethoxyphenyl)ethenyl]-1-(4-imidazol-1-ylbutyl)indole | 1165071: Inhibition of N-terminally MBP-fused human CYP24A1 by cell-free assay | ki | 0.0140 | uM |
| 4-(4-chlorophenyl)-N-[(2R)-2-imidazol-1-yl-2-phenylethyl]benzamide | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ic50 | 0.0150 | uM |
| 4-(4-chlorophenyl)-N-(2-imidazol-1-yl-2-phenylethyl)benzamide | 311064: Inhibition of CYP24 in human keratinocytes | ic50 | 0.0150 | uM |
| 4-[(E)-2-(4-fluorophenyl)ethenyl]-N-(2-imidazol-1-yl-2-phenylethyl)benzamide | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0190 | uM |
| trans-(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-7a-methyl-1-[(2R)-1-[1-(phenylsulfonimidoyl)cyclopropyl]propan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol | 282480: Inhibition of human CYP24 hydroxylase expressed in V79 cells | ic50 | 0.0205 | uM |
| trans-(1R,3R)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2S)-1-imidazol-1-ylpropan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-2-methylidenecyclohexane-1,3-diol | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0210 | uM |
| [(2R)-2-[(4E,7aR)-4-[(2Z)-2-[(5R)-5-hydroxy-2-methylidenecyclohexylidene]ethylidene]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-1-yl]propyl] 2-bromoacetate | 1799837: CYP24A1Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.” | ki | 0.0210 | uM |
| cis-(1S,3R)-5-[(2E)-2-[(7aR)-1-[(2R)-1-imidazol-1-ylpropan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-2-methylidenecyclohexane-1,3-diol | 1799837: CYP24A1Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.” | ki | 0.0210 | uM |
| N-(2-imidazol-1-yl-2-phenylethyl)-4-[(E)-2-(4-methoxyphenyl)ethenyl]benzamide | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0240 | uM |
| 1-[4-[4-[[(2R,4S)-2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]ethanone | 1799837: CYP24A1Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.” | ki | 0.0240 | uM |
| 1-(3-imidazol-1-ylpropyl)-4-[(E)-2-phenylethenyl]indole | 1165071: Inhibition of N-terminally MBP-fused human CYP24A1 by cell-free assay | ki | 0.0260 | uM |
| trans-(1R,3S,5Z)-5-[(2E)-2-[(3aS,7aS)-1-[(E,2R)-5-tert-butylsulfonylpent-4-en-2-yl]-7a-methyl-3a,5,6,7-tetrahydro-3H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ic50 | 0.0270 | uM |
| trans-(1R,3S,5Z)-5-[(2E)-2-[(3aS,7aS)-1-[(E,2R)-4-tert-butylsulfonylbut-3-en-2-yl]-7a-methyl-3a,5,6,7-tetrahydro-3H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol | 1704649: Inhibition of CYP24A1 (unknown origin) expressed in Chinese hamster V79 cells using [3H-1beta]-1alpha,25(OH)2D3 as substrate preincubated for 30 mins followed by substrate addition and measured after 2 hrs by scintillation counting method | ic50 | 0.0270 | uM |
| trans-(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2R)-4-[(4-fluorophenyl)sulfonimidoyl]butan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol | 282480: Inhibition of human CYP24 hydroxylase expressed in V79 cells | ic50 | 0.0280 | uM |
| trans-(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2R)-4-(benzenesulfonyl)butan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol | 1704644: Inhibition of human CYP24A1 expressed in Chinese hamster V79 cells using [3H-1beta]-1alpha,25(OH)2D3 as substrate preincubated for 10 mins followed by substrate addition and measured after 2 hrs by scintillation counting method | ic50 | 0.0280 | uM |
| N-(2-imidazol-1-yl-2-phenylethyl)-4-[(E)-2-phenylethenyl]benzamide | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0280 | uM |
| 4-[(E)-2-(3,5-dimethoxyphenyl)ethenyl]-1-(3-imidazol-1-ylpropyl)indole | 1165071: Inhibition of N-terminally MBP-fused human CYP24A1 by cell-free assay | ki | 0.0310 | uM |
| 1-[4-[4-[[2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]ethanone | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0330 | uM |
| 4-[2-(4-fluorophenyl)ethyl]-N-(2-imidazol-1-yl-2-phenylethyl)benzamide | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0360 | uM |
| 1-(3-imidazol-1-ylpropyl)-5-[(E)-2-phenylethenyl]indole | 1165071: Inhibition of N-terminally MBP-fused human CYP24A1 by cell-free assay | ki | 0.0370 | uM |
| 1-(4-imidazol-1-ylbutyl)-5-[(E)-2-phenylethenyl]indole | 1165071: Inhibition of N-terminally MBP-fused human CYP24A1 by cell-free assay | ki | 0.0370 | uM |
| [(4R)-4-[(1R,3aS,4E,7aR)-4-[(2Z)-2-[(5S)-5-hydroxy-2-methylidenecyclohexylidene]ethylidene]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-1-yl]pentyl] 4-methylbenzenesulfonate | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0390 | uM |
| [(4S)-4-[(4E,7aR)-4-[(2Z)-2-[(5R)-5-hydroxy-2-methylidenecyclohexylidene]ethylidene]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-1-yl]pentyl] 4-methylbenzenesulfonate | 1799837: CYP24A1Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.” | ki | 0.0390 | uM |
| 2-imidazol-1-yl-4,4-dimethyl-1-[4-(2-phenylethyl)phenyl]pentan-3-one | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0420 | uM |
| cis-(1R,3S)-5-[(2E)-2-[(7aR)-1-[(2S)-5-(cyclopropylamino)pentan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-2-methylidenecyclohexane-1,3-diol | 1799837: CYP24A1Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.” | ki | 0.0420 | uM |
| trans-(1R,3R)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2R)-5-(cyclopropylamino)pentan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-2-methylidenecyclohexane-1,3-diol | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0420 | uM |
| (1S,3Z)-3-[(2E)-2-[(1R,3aS,7aR)-7a-methyl-1-[(2R)-4-(phenylsulfonimidoyl)butan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexan-1-ol | 282480: Inhibition of human CYP24 hydroxylase expressed in V79 cells | ic50 | 0.0750 | uM |
| (4S)-4-[(4E,7aR)-4-[(2Z)-2-[(5R)-5-hydroxy-2-methylidenecyclohexylidene]ethylidene]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-1-yl]pentanoic acid | 1799837: CYP24A1Inhibition Assay from Article 10.1021/bi101488p: “Screening of selective inhibitors of 1a,25-dihydroxyvitamin D3 24-hydroxylase using recombinant human enzyme expressed in Escherichia coli.” | ki | 0.0900 | uM |
| N-(2-imidazol-1-yl-2-phenylethyl)-4-(phenylsulfamoyl)benzamide | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.0910 | uM |
| N-[2-imidazol-1-yl-2-(4-methoxyphenyl)ethyl]-4-[(E)-2-phenylethenyl]benzamide | 1486357: Inhibition of MBP-tagged human CYP24A1 expressed Escherichia coli BL21-Gold(DE3) incubated for 25 mins in presence of Adx, AdR 1,25(OH)2D3 and NADPH by HPLC method | ic50 | 0.1100 | uM |
| N-[2-(4-chlorophenyl)-2-imidazol-1-ylethyl]-4-[(E)-2-(3,4-dimethoxyphenyl)ethenyl]benzamide | 1486357: Inhibition of MBP-tagged human CYP24A1 expressed Escherichia coli BL21-Gold(DE3) incubated for 25 mins in presence of Adx, AdR 1,25(OH)2D3 and NADPH by HPLC method | ic50 | 0.1200 | uM |
| 1-[4-[(E)-2-(3,5-dimethoxyphenyl)ethenyl]phenyl]-4,4-dimethylpentan-3-one | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.1500 | uM |
| N-[2-imidazol-1-yl-2-[4-(trifluoromethyl)phenyl]ethyl]-3-[(E)-2-phenylethenyl]benzamide | 1486357: Inhibition of MBP-tagged human CYP24A1 expressed Escherichia coli BL21-Gold(DE3) incubated for 25 mins in presence of Adx, AdR 1,25(OH)2D3 and NADPH by HPLC method | ic50 | 0.1500 | uM |
| N-[2-(4-chlorophenyl)-2-imidazol-1-ylethyl]-3-[(E)-2-phenylethenyl]benzamide | 1486357: Inhibition of MBP-tagged human CYP24A1 expressed Escherichia coli BL21-Gold(DE3) incubated for 25 mins in presence of Adx, AdR 1,25(OH)2D3 and NADPH by HPLC method | ic50 | 0.1600 | uM |
| N-[2-imidazol-1-yl-2-[4-(trifluoromethyl)phenyl]ethyl]-4-[(E)-2-phenylethenyl]benzamide | 1486357: Inhibition of MBP-tagged human CYP24A1 expressed Escherichia coli BL21-Gold(DE3) incubated for 25 mins in presence of Adx, AdR 1,25(OH)2D3 and NADPH by HPLC method | ic50 | 0.1800 | uM |
| N-(2-imidazol-1-yl-2-phenylethyl)-3-[(E)-2-phenylethenyl]benzamide | 1486357: Inhibition of MBP-tagged human CYP24A1 expressed Escherichia coli BL21-Gold(DE3) incubated for 25 mins in presence of Adx, AdR 1,25(OH)2D3 and NADPH by HPLC method | ic50 | 0.1900 | uM |
| [1-[4-[(E)-2-(3,5-dimethoxyphenyl)ethenyl]phenyl]-4,4-dimethylpentan-3-yl] 4-methylbenzenesulfonate | 1160913: Inhibition of human MBP-tagged CYP24A1 expressed in Escherichia coli using 1,25(OH)2D3 substrate in presence of bovine adrenodoxin, adrenodoxin reductase and NADPH incubated at 37 degC for 25 mins by HPLC method | ki | 0.2100 | uM |
| N-[2-(4-chlorophenyl)-2-imidazol-1-ylethyl]-4-[(E)-2-phenylethenyl]benzamide | 1486357: Inhibition of MBP-tagged human CYP24A1 expressed Escherichia coli BL21-Gold(DE3) incubated for 25 mins in presence of Adx, AdR 1,25(OH)2D3 and NADPH by HPLC method | ic50 | 0.2100 | uM |
CTD chemical–gene interactions
133 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Calcitriol | increases activity, decreases metabolic processing, increases abundance, decreases response to substance, affects binding (+6 more) | 37 |
| Benzo(a)pyrene | increases degradation, increases methylation, affects binding, decreases reaction, increases reaction (+2 more) | 8 |
| Lithocholic Acid | increases expression, increases reaction, decreases reaction, affects binding, increases activity | 6 |
| sodium arsenite | increases expression, affects methylation, decreases expression, affects cotreatment, increases abundance | 5 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 5 |
| Valproic Acid | increases reaction, affects cotreatment, increases expression | 5 |
| lithocholic acid acetate | decreases reaction, increases expression, affects binding, increases activity, increases reaction (+1 more) | 4 |
| Calcifediol | increases expression, decreases reaction | 4 |
| Tetrachlorodibenzodioxin | increases reaction, increases expression | 4 |
| Cyclosporine | decreases expression, increases expression | 4 |
| trichostatin A | affects expression, decreases reaction, increases expression, increases reaction | 3 |
| Ketoconazole | increases expression, increases reaction, decreases activity, decreases expression, decreases metabolic processing | 3 |
| arsenite | increases methylation | 2 |
| perfluorooctanoic acid | increases expression, decreases reaction | 2 |
| seocalcitol | increases expression | 2 |
| paricalcitol | decreases expression, increases activity, affects cotreatment, increases expression | 2 |
| U 0126 | increases expression, affects binding, increases reaction, decreases reaction | 2 |
| monomethylarsonous acid | decreases expression, increases methylation | 2 |
| Arsenic Trioxide | decreases reaction, increases expression, decreases expression, increases activity | 2 |
| Leflunomide | increases expression | 2 |
| Arsenic | increases abundance, increases expression, affects cotreatment, decreases expression | 2 |
| Cholecalciferol | increases expression, decreases reaction | 2 |
| Lipopolysaccharides | affects response to substance, increases expression, affects expression | 2 |
| Quercetin | decreases expression, increases expression, increases reaction | 2 |
| Rifampin | increases reaction, affects binding, increases activity, increases expression | 2 |
| Dihydrotestosterone | decreases reaction, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Tretinoin | decreases reaction, increases expression | 2 |
| Vitamin D | decreases reaction, increases expression, affects binding, increases reaction | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
ChEMBL screening assays
35 unique, capped per target: 28 binding, 7 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1055571 | Binding | Binding affinity to human CYP24A1 expressed in Escherichia coli assessed as catalytic efficiency after 60 mins relative 1-alpha,25-dihydroxyvitamin D3 | Synthesis of 2alpha-propoxy-1alpha,25-dihydroxyvitamin D3 and comparison of its metabolism by human CYP24A1 and rat CYP24A1. — Bioorg Med Chem |
| CHEMBL1177226 | ADMET | Inhibition of CYP24A1 | Synthesis and CYP24A1 inhibitory activity of N-(2-(1H-imidazol-1-yl)-2-phenylethyl)arylamides. — Bioorg Med Chem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2MI | Abcam A-549 CYP24A1 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: hypercalcemia, infantile, 1, hypercalcemia, infantile
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atopic eczema, hypercalcemia, infantile, 1, nephrolithiasis