DHCR7

Summary

DHCR7 (7-dehydrocholesterol reductase, HGNC:2860) is a protein-coding gene on chromosome 11q13.4, encoding 7-dehydrocholesterol reductase (Q9UBM7). Oxidoreductase that catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core.

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.

Source: NCBI Gene 1717 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Smith-Lemli-Opitz syndrome (Definitive, ClinGen)
• GWAS associations: 7
• Clinical variants (ClinVar): 1,171 total — 67 pathogenic, 154 likely-pathogenic
• Phenotypes (HPO): 181
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001360

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2860
Approved symbol	DHCR7
Name	7-dehydrocholesterol reductase
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172893
Ensembl biotype	protein_coding
OMIM	602858
Entrez	1717

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 32 protein_coding, 3 retained_intron

ENST00000355527, ENST00000407721, ENST00000525137, ENST00000525346, ENST00000526780, ENST00000527316, ENST00000527452, ENST00000529990, ENST00000531364, ENST00000533800, ENST00000534701, ENST00000534795, ENST00000682708, ENST00000682880, ENST00000683287, ENST00000683714, ENST00000683874, ENST00000684396, ENST00000685320, ENST00000690257, ENST00000864862, ENST00000864863, ENST00000864864, ENST00000864865, ENST00000864866, ENST00000938772, ENST00000938773, ENST00000938774, ENST00000938775, ENST00000938776, ENST00000956190, ENST00000956191, ENST00000956192, ENST00000956193, ENST00000956194

RefSeq mRNA: 16 — MANE Select: NM_001360 NM_001163817, NM_001360, NM_001425107, NM_001425108, NM_001425109, NM_001425110, NM_001425111, NM_001425112, NM_001425113, NM_001425114, NM_001425116, NM_001425117, NM_001425118, NM_001425119, NM_001425120, NM_001425121

CCDS: CCDS8200

Canonical transcript exons

ENST00000355527 — 9 exons

Exon	Start	End
ENSE00000000018	71434411	71435839
ENSE00001199559	71437812	71437943
ENSE00001199564	71438879	71439083
ENSE00001199569	71441227	71441440
ENSE00001199577	71442263	71442353
ENSE00001199590	71447610	71447734
ENSE00001417804	71448290	71448393
ENSE00003507353	71444855	71444958
ENSE00003785127	71443993	71444215

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 98.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.3553 / max 240.1779, expressed in 1787 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
121113	36.7796	1785
121114	0.5757	335

Top tissues by expression

287 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	98.32	gold quality
right lobe of liver	UBERON:0001114	96.24	gold quality
right adrenal gland cortex	UBERON:0035827	95.71	gold quality
oocyte	CL:0000023	95.64	gold quality
right adrenal gland	UBERON:0001233	95.64	gold quality
islet of Langerhans	UBERON:0000006	95.39	gold quality
adrenal cortex	UBERON:0001235	95.15	gold quality
adrenal gland	UBERON:0002369	95.10	gold quality
left adrenal gland cortex	UBERON:0035825	94.96	gold quality
left adrenal gland	UBERON:0001234	94.87	gold quality
secondary oocyte	CL:0000655	94.79	gold quality
skin of leg	UBERON:0001511	94.70	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.13	gold quality
liver	UBERON:0002107	94.06	gold quality
skin of abdomen	UBERON:0001416	94.01	gold quality
zone of skin	UBERON:0000014	93.12	gold quality
endometrium epithelium	UBERON:0004811	93.08	gold quality
spinal cord	UBERON:0002240	92.97	gold quality
corpus epididymis	UBERON:0004359	92.74	gold quality
ventricular zone	UBERON:0003053	92.65	gold quality
left ovary	UBERON:0002119	92.64	gold quality
ganglionic eminence	UBERON:0004023	92.53	gold quality
upper leg skin	UBERON:0004262	92.04	gold quality
upper arm skin	UBERON:0004263	91.58	gold quality
embryo	UBERON:0000922	91.57	gold quality
right ovary	UBERON:0002118	91.25	gold quality
mucosa of transverse colon	UBERON:0004991	90.85	gold quality
esophagus mucosa	UBERON:0002469	90.34	gold quality
prefrontal cortex	UBERON:0000451	90.28	gold quality
hypothalamus	UBERON:0001898	90.09	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6142	no	1249.83
E-MTAB-7008	no	980.15
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): RUNX2, SP1, SREBF1, ZNF274

miRNA regulators (miRDB)

31 targeting DHCR7, 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-3925-3P	100.00	69.95	1237
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-6126	99.62	68.09	996
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-4780	98.57	64.75	611
HSA-MIR-4290	98.51	65.17	907
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-211-3P	98.14	66.77	1052
HSA-MIR-6867-3P	98.12	66.07	1305
HSA-MIR-6757-5P	98.08	65.50	724
HSA-MIR-6730-5P	98.03	68.12	1299
HSA-MIR-5681A	97.99	67.17	1658
HSA-MIR-9851-5P	97.57	67.49	1067
HSA-MIR-2467-5P	97.36	67.71	991
HSA-MIR-3194-5P	96.80	64.90	1027
HSA-MIR-4680-5P	96.43	67.15	893
HSA-MIR-4296	96.35	63.55	1233

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• This protein catalyses the last step of endogenous cholesterol synthesis. SLOS is caused by a biochemical enzymatic defect. (PMID:11767235)
• identified a new mutation in DHCR7 (PMID:11857552)
• Mutation analysis demonstrated a novel mutation in the DHCR7 gene, present in homozygous form in the two affected individuals available for testing, and heterozygous in the parents. (PMID:12116246)
• SLOS is a recessive gene disorder. A fetus was found to have renal agenesis. (PMID:12833423)
• Our identification of a single haplotype associated with the T93M mutation in patients whose ancestors originate in the region of the Mediterranean Sea basin suggests a founder effect. (PMID:14981719)
• DHCR7 mutations have a role in the Smith-Lemli-Opitz syndrome (PMID:15776424)
• identification of nine novel missense mutations of the DHCR7 gene (PMID:15954111)
• Mutational analysis of the DHCR7 gene led to the identification of seven distinct mutations, three of which are new (F174S, H301R, and Q98X) for Smith-Lemli-Opitz syndrome. (PMID:15979035)
• In Polish individuals with SLOS two DHCR7 mutations, c.452G>A (p.Trp151X) and c.976G>T (p.Val326Leu), account for 65.2% of all observed DHCR7 mutations. (PMID:16497572)
• DHCR7 mutation is a rapid and reliable method for prenatal diagnosis of Smith-Lemli-Opitz syndrome. (PMID:17441222)
• DHCR7 gene mutations is associated with Smith-Lemli-Opitz syndrome. (PMID:17595012)
• it appears that a combination of founder effects, recurrent mutations, and drift have shaped the present frequency distribution of DHCR7 mutations in Europe (PMID:17965227)
• The study identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz syndrome. (PMID:18006960)
• DHCR7 mutation is associated with Smith-Lemli-Opitz syndrome (PMID:18249054)
• The p.G366V is a novel mutation of the DHCR7 gene with guanine by thymine nucleotide exchange resulting in glycin by valin amino acid exchange in the dehydrocholesterol reductase enzyme. (PMID:19365639)
• study determined the mutational spectrum of DHCR7 gene in 17 Slovak Smith-Lemli-Opitz syndrome patients; 6 different mutations were identified: nonsense mutation W151X and missense mutations V326L, L109P, G410S, R352Q, Y432C (PMID:19390132)
• LBR mutant variants and sterol reductases can severely interfere with the regular organization of the nuclear envelope and the endoplasmic reticulum. (PMID:19940018)
• Mutations of the 7-dehydrocholesterol reductase gene is associated with Smith-Lemli-Opitz syndrome. (PMID:20635399)
• Study confirms that variation in DHCR7 is associated with predisposition to autoimmune disease type 1 diabetes. (PMID:21441443)
• Two previously reported N287K (861 C>A) and R352Q (1055 G>A) and a novel R352L (1055 G>T) mutations were identified in the DHCR7 gene in these patients. (PMID:21696385)
• GC and NADSYN1/DHCR7 loci individually and collectively contribute to variation in plasma vitamin D levels in Chinese Hans. (PMID:21972121)
• ANKRD55 and DHCR7 are novel multiple sclerosis risk loci. (PMID:22130326)
• This study demonistrated that the accumulation of an immediate cholesterol precursor, 7-DHC and its oxysterol metabolite, 3beta,5alpha-dihydroxycholest-7-en-6-one (DHCEO)in DHCR7 knockout mice. (PMID:22182693)
• The p.Thr93Met is the most frequent mutation in Turkish SLOS patients showing that there might be a founder in East Mediterranean regions (PMID:22211794)
• several SNPs related to calcium metabolism are associated with height, in particular rs3829251 at the DHCR7/NADSYN1 gene. (PMID:22390397)
• Our study is the first to confirm the association of variants in DHCR7 and CYP2R1 with 25(OH)-vitamin D levels in patients with chronic liver diseases. Results also showed an association between DHCR7 and liver stiffness. (PMID:22576297)
• we found that the two variant genotypes of DHCR7/NADSYN1 (rs3829251, rs12785878) were both associated with serum 25-hydroxyvitamin D levels. (PMID:22801813)
• Studies suggest DHCR7 mutation for the diagnosis of Smith-Lemli-Opitz Syndrome. (PMID:23321614)
• Genetic variation in DHCR7 associated with lower serum 25(OH)D has a decreased risk of aggressive prostate cancer. (PMID:23377224)
• Data indicate that SNPs in the DHCR7/NADSYN1 locus showed evidence of positive association with rheumatoid arthritis (RA). (PMID:23636220)
• In patients with genotype 1 chronic hepatitis C, GG homozygosis for DHCR7 gene and lower 25-hydroxyvitamin D levels are independently associated with the severity of liver fibrosis. (PMID:23730842)
• Data indicate that the same nucleotide polymorphisms (SNPs) genotypes of CYP2R1, GC and DHCR7 that are associated with reduced 25(OH)D3 serum levels were found to be associated with hepatitis C virus (HCV)-related hepatocellular carcinoma (HCC). (PMID:23734184)
• This study provides evidence that the DHCR7 gene is involved in the susceptibility to ocular Behcet disease. (PMID:24184224)
• NADSYN1/DHCR7 locus (rs12785878 and rs1790349) polymorphisms have an effect on plasma 25-hydroxyvitamin D levels and coronary artery disease incidence (PMID:24642724)
• rs3829251 (DHCR7) influenced progression of subclinical atherosclerosis in a manner dependent on type 2 diabetes status but independent of 25(OH)D levels. The SNP modulates DHCR7 mRNA levels in aortic adventitia. (PMID:24663808)
• In this mendelian randomisation study, we generated an allele score (25[OH]D synthesis score) based on variants of genes that affect 25(OH)D synthesis or substrate availability (CYP2R1 and DHCR7) (PMID:24974252)
• This study shows that Smith-Lemli-Opitz Syndrome patients who are heterozygous/homozygous for one pathogenic mutation and only one parent carrying that mutation are candidates for DHCR7 gene (partial) deletions. (PMID:25040602)
• physical and functional interaction between DHCR24 and DHCR7 (PMID:25637936)
• Allelic variations in CYP2R1 and GC affect vitamin D levels, but variant alleles on VDR and DHCR7 were not correlated with vitamin D deficiency. (PMID:26038244)
• Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations (PMID:26149120)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dhcr7	ENSDARG00000103226
mus_musculus	Dhcr7	ENSMUSG00000058454
rattus_norvegicus	Dhcr7	ENSRNOG00000020776
drosophila_melanogaster	LBR	FBGN0034657
caenorhabditis_elegans		WBGENE00007126

Paralogs (2): LBR (ENSG00000143815), TM7SF2 (ENSG00000149809)

Protein

Protein identifiers

7-dehydrocholesterol reductase — Q9UBM7 (reviewed: Q9UBM7)

Alternative names: Cholesterol-5,6-epoxide hydrolase subunit DHCR7, Delta7-sterol reductase, Sterol Delta(7)-reductase, Sterol reductase SR-2

All UniProt accessions (17): A0A024R5F7, A0A804HI25, A0A804HJI8, A0A804HJQ7, A0A804HL56, A0A8I5KRR9, B4E1K5, E9PIP9, E9PJ54, E9PLZ2, E9PM00, E9PQ71, E9PRL8, Q9UBM7, H0YCS7, H0YE57, H0YEJ5

UniProt curated annotations — full annotation on UniProt →

Function. Oxidoreductase that catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core. Can also metabolize cholesta-5,7,24-trien-3beta-ol (7-dehydrodemosterol, 7-DHD) to desmosterol, which is then metabolized by the Delta(24)-sterol reductase (DHCR24) to cholesterol. Modulates ferroptosis (a form of regulated cell death driven by iron-dependent lipid peroxidation) through the metabolic breakdown of the anti-ferroptotic metabolites 7-DHC and 7-DHD which, when accumulated, divert the propagation of peroxyl radical-mediated damage from phospholipid components to its sterol core, protecting plasma and mitochondrial membranes from phospholipid autoxidation. Component of the microsomal antiestrogen binding site (AEBS), a multiproteic complex at the ER membrane that consists of an association between cholestenol Delta-isomerase/EBP and DHCR7. This complex is responsible for cholesterol-5,6-epoxide hydrolase (ChEH) activity, which consists in the hydration of cholesterol-5,6-epoxides (5,6-EC) into cholestane-3beta,5alpha,6beta-triol (CT). The precise role of each component of this complex has not been described yet.

Subunit / interactions. Interacts with DHCR24; this interaction regulates DHCR7 activity. Interacts with TMEM147.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Widely expressed. Most abundant in adrenal gland, liver, testis, and brain.

Disease relevance. Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and intellectual disability. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic (’type I’) SLOS and the more severely affected (’type II’) patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. 7-DHC reductase and cholesterol-5,6-epoxide hydrolase (ChEH) activities are inhibited by tamoxifen and the selective AEBS ligand (4-benzyl-phenoxy)-ethyl-N-pyrrolidine (PBPE). ChEH activity is inhibited by oleic acid.

Pathway. Steroid biosynthesis; cholesterol biosynthesis.

Similarity. Belongs to the ERG4/ERG24 family.

RefSeq proteins (16): NP_001157289, NP_001351, NP_001412036, NP_001412037, NP_001412038, NP_001412039, NP_001412040, NP_001412041, NP_001412042, NP_001412043, NP_001412045, NP_001412046, NP_001412047, NP_001412048, NP_001412049, NP_001412050 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001171	ERG24_DHCR-like	Family
IPR018083	Sterol_reductase_CS	Conserved_site

Pfam: PF01222

Enzyme classification (BRENDA):

• EC 1.3.1.21 — 7-dehydrocholesterol reductase (BRENDA: 12 organisms, 52 substrates, 97 inhibitors, 3 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
7-DEHYDROCHOLESTEROL	1.14	1
ERGOSTEROL	0.21	1
NADPH	0.28	1

Catalyzed reactions (Rhea), 4 shown:

• 5,6alpha-epoxy-5alpha-cholestan-3beta-ol + H2O = 5alpha-cholestane-3beta,5,6beta-triol (RHEA:11964)
• 5,6beta-epoxy-5beta-cholestan-3beta-ol + H2O = 5alpha-cholestane-3beta,5,6beta-triol (RHEA:15113)
• cholesterol + NADP(+) = 7-dehydrocholesterol + NADPH + H(+) (RHEA:23984)
• 7-dehydrodesmosterol + NADPH + H(+) = desmosterol + NADP(+) (RHEA:46740)

UniProt features (79 total): sequence variant 56, binding site 8, transmembrane region 7, mutagenesis site 4, chain 1, modified residue 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBM7-F1	91.64	0.85

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 (8): 362; 395; 400; 407–408; 447; 451–455; 462; 358

Post-translational modifications (1): 14

Mutagenesis-validated functional residues (4):

Position	Phenotype
24	no effect on 7-dehydrocholesterol reductase activity.
274	loss of 7-dehydrocholesterol reductase activity.
306	loss of 7-dehydrocholesterol reductase activity.
317	no effect on 7-dehydrocholesterol reductase activity.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-2426168	Activation of gene expression by SREBF (SREBP)
R-HSA-6807047	Cholesterol biosynthesis via desmosterol (Bloch pathway)
R-HSA-9969901	Cholesterol biosynthesis from zymosterol (modified Kandutsch-Russell pathway)
R-HSA-6807062	Zymostenol biosynthesis via lathosterol (Kandutsch-Russell pathway)

MSigDB gene sets: 647 (showing top): GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, chr11q13, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, UEDA_PERIFERAL_CLOCK, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, RANKIN_ANGIOGENIC_TARGETS_OF_VHL_HIF2A_UP, GOBP_STEROID_BIOSYNTHETIC_PROCESS, JEON_SMAD6_TARGETS_DN, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, TIEN_INTESTINE_PROBIOTICS_24HR_UP, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP

GO Biological Process (9): cholesterol biosynthetic process (GO:0006695), obsolete cholesterol biosynthetic process via desmosterol (GO:0033489), obsolete cholesterol biosynthetic process via lathosterol (GO:0033490), positive regulation of ferroptosis (GO:0160020), lipid metabolic process (GO:0006629), steroid biosynthetic process (GO:0006694), steroid metabolic process (GO:0008202), cholesterol metabolic process (GO:0008203), sterol biosynthetic process (GO:0016126)

GO Molecular Function (7): cholesterol-5,6-oxide hydrolase activity (GO:0033963), 7-dehydrocholesterol reductase activity (GO:0047598), NADP binding (GO:0050661), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628), hydrolase activity (GO:0016787)

GO Cellular Component (4): nuclear outer membrane (GO:0005640), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Cholesterol biosynthesis	3
Regulation of cholesterol biosynthesis by SREBP (SREBF)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sterol metabolic process	2
catalytic activity	2
nuclear outer membrane-endoplasmic reticulum membrane network	2
cholesterol metabolic process	1
sterol biosynthetic process	1
secondary alcohol biosynthetic process	1
positive regulation of programmed cell death	1
ferroptosis	1
regulation of ferroptosis	1
primary metabolic process	1
steroid metabolic process	1
lipid biosynthetic process	1
lipid metabolic process	1
secondary alcohol metabolic process	1
steroid biosynthetic process	1
ether hydrolase activity	1
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	1
adenyl nucleotide binding	1
binding	1
oxidoreductase activity, acting on the CH-CH group of donors	1
nuclear membrane	1
organelle outer membrane	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1974 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DHCR7	EBP	Q15125	940
DHCR7	FDFT1	P37268	906
DHCR7	DHCR24	Q15392	906
DHCR7	CYP2R1	Q6VVX0	886
DHCR7	HMGCS1	Q01581	880
DHCR7	HMGCR	P04035	851
DHCR7	NSDHL	Q15738	841
DHCR7	SC5D	O75845	830
DHCR7	SQLE	Q14534	829
DHCR7	NADSYN1	Q6IA69	818
DHCR7	CYP51A1	Q16850	799
DHCR7	CYP24A1	Q07973	783
DHCR7	PAG1	Q9NWQ8	769
DHCR7	IDI1	Q13907	769
DHCR7	MSMO1	Q15800	763

IntAct

116 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
ERBB2	NDUFA4	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
DHCR7	DHCR24	psi-mi:“MI:0915”(physical association)	0.400
GPC1	SNAP23	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
Cep152	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
Bmpr1a	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Hspa14	TDG	psi-mi:“MI:0914”(association)	0.350
Atp2a2	ESYT2	psi-mi:“MI:0914”(association)	0.350
Smn1	CLNS1A	psi-mi:“MI:0914”(association)	0.350
LTN1	KIF2A	psi-mi:“MI:0914”(association)	0.350
		psi-mi:“MI:0914”(association)	0.350
M	PGRMC1	psi-mi:“MI:0914”(association)	0.350
M	NPEPPSL1	psi-mi:“MI:0914”(association)	0.350
M2	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
RRP1B	ZNF785	psi-mi:“MI:0914”(association)	0.350
ISG15	SURF4	psi-mi:“MI:0914”(association)	0.350
	TSPO	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
PRKCB	HNRNPDL	psi-mi:“MI:0914”(association)	0.350

BioGRID (255): DHCR7 (Affinity Capture-MS), DHCR7 (Proximity Label-MS), DHCR7 (Proximity Label-MS), DHCR7 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS)

ESM2 similar proteins: A0A077K9K6, A0A1V0QSF1, A1JHN0, A2Z1F5, A8J0J0, B2WAQ3, B8AIW3, E3Q717, O14735, O64886, O82568, O88455, P32378, P70500, Q0D576, Q0DAK7, Q0WUA3, Q10153, Q10252, Q16QL3, Q1ACB3, Q298G6, Q2N2K1, Q2N2K2, Q2N2K3, Q2N2K4, Q499N4, Q5E9J5, Q5N808, Q66JT7, Q69PA8, Q6C0L2, Q6ETL8, Q75F43, Q7XB13, Q7XB14, Q7XR51, Q7YRU6, Q8N2U9, Q8VDP6

Diamond homologs: A0A1D8PIC7, G4SW86, I1RF79, I1RR90, I1RZZ3, O08984, O13597, O76062, O88455, P23913, P25340, P32462, P36209, P38670, P78575, Q01447, Q09195, Q14739, Q3U9G9, Q4WJ59, Q4WJJ9, Q4WKA5, Q4WW43, Q54PP1, Q5E9J5, Q5R7H4, Q5UQI4, Q6P4M0, Q71KT5, Q7SXF1, Q7ZXH1, Q8WMV1, Q9LDR4, Q9LDU6, Q9UBM7, Q9Z2Z8, A0A1D8PJ25, Q8MLV1

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
DHCR7	“down-regulates quantity”	cholesta-5,7-dien-3beta-ol	“chemical modification”
DHCR7	“up-regulates quantity”	cholesterol	“chemical modification”
DHCR24	“up-regulates activity”	DHCR7	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 134 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
Signaling by SCF-KIT	5	13.8×	1e-03
RAF/MAP kinase cascade	7	4.8×	9e-03
Membrane Trafficking	9	3.7×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

1171 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	67
Likely pathogenic	154
Uncertain significance	324
Likely benign	370
Benign	36

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1073442	NC_000011.9:g.(?71146411)(71146895_?)del	Pathogenic
1076651	NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys)	Pathogenic
1361572	NM_001360.3(DHCR7):c.949del (p.Leu317fs)	Pathogenic
1383040	NM_001360.3(DHCR7):c.969_970del (p.Tyr324fs)	Pathogenic
1392687	NM_001360.3(DHCR7):c.1360A>T (p.Lys454Ter)	Pathogenic
1414460	NM_001360.3(DHCR7):c.644_659del (p.Asn214_Phe215insTer)	Pathogenic
1441328	NC_000011.9:g.(?71146411)(71156008_?)del	Pathogenic
1455236	NM_001360.3(DHCR7):c.1220A>G (p.Asn407Ser)	Pathogenic
1457935	NM_001360.3(DHCR7):c.925G>A (p.Gly309Ser)	Pathogenic
1738885	NM_001360.3(DHCR7):c.422del (p.Asn141fs)	Pathogenic
188723	NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)	Pathogenic
188923	NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)	Pathogenic
1999612	NM_001360.3(DHCR7):c.1404C>G (p.Tyr468Ter)	Pathogenic
2030429	NM_001360.3(DHCR7):c.474G>A (p.Trp158Ter)	Pathogenic
2034234	NM_001360.3(DHCR7):c.546G>T (p.Trp182Cys)	Pathogenic
2108087	NM_001360.3(DHCR7):c.1012del (p.Val338fs)	Pathogenic
21272	NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)	Pathogenic
2135337	NM_001360.3(DHCR7):c.1113G>A (p.Trp371Ter)	Pathogenic
2137192	NM_001360.3(DHCR7):c.720_735del (p.Asn240fs)	Pathogenic
2424132	NC_000011.9:g.(?71148848)(71148999_?)del	Pathogenic
2424133	NC_000011.9:g.(?71146674)(71155299_?)del	Pathogenic
2424134	NC_000011.9:g.(?71152249)(71153318_?)del	Pathogenic
2705375	NM_001360.3(DHCR7):c.1031del (p.Gly344fs)	Pathogenic
2707266	NM_001360.3(DHCR7):c.248C>A (p.Ser83Ter)	Pathogenic
2709156	NM_001360.3(DHCR7):c.266del (p.Thr89fs)	Pathogenic
2712742	NM_001360.3(DHCR7):c.322-1_334del	Pathogenic
2734739	NM_001360.3(DHCR7):c.877A>T (p.Lys293Ter)	Pathogenic
2735694	NM_001360.3(DHCR7):c.986C>T (p.Pro329Leu)	Pathogenic
2751498	NM_001360.3(DHCR7):c.543GTG[1] (p.Trp182del)	Pathogenic
2752700	NM_001360.3(DHCR7):c.1210del (p.Arg404fs)	Pathogenic

SpliceAI

1512 predictions. Top by Δscore:

Variant	Effect	Δscore
11:71435838:CC:C	acceptor_gain	1.0000
11:71435839:CC:C	acceptor_gain	1.0000
11:71437862:A:AC	donor_gain	1.0000
11:71437863:C:CG	donor_gain	1.0000
11:71437864:C:CT	donor_gain	1.0000
11:71437940:TGGC:T	acceptor_gain	1.0000
11:71437941:GGCC:G	acceptor_loss	1.0000
11:71437942:GCCT:G	acceptor_loss	1.0000
11:71437943:CCT:C	acceptor_loss	1.0000
11:71437944:C:CC	acceptor_gain	1.0000
11:71437945:T:A	acceptor_loss	1.0000
11:71439047:CATCA:C	acceptor_gain	1.0000
11:71439050:CA:C	acceptor_gain	1.0000
11:71439051:A:C	acceptor_gain	1.0000
11:71439057:T:C	acceptor_gain	1.0000
11:71439057:T:TC	acceptor_gain	1.0000
11:71439085:T:C	acceptor_gain	1.0000
11:71439085:T:TC	acceptor_gain	1.0000
11:71441226:CCAGT:C	donor_gain	1.0000
11:71441353:C:CT	acceptor_gain	1.0000
11:71443988:CTGAC:C	donor_loss	1.0000
11:71443989:TGA:T	donor_loss	1.0000
11:71443990:GAC:G	donor_loss	1.0000
11:71443991:A:AG	donor_loss	1.0000
11:71443992:CC:C	donor_loss	1.0000
11:71444031:T:A	donor_loss	1.0000
11:71444031:T:TA	donor_gain	1.0000
11:71444211:CCTCC:C	acceptor_gain	1.0000
11:71444212:CTCC:C	acceptor_gain	1.0000
11:71444212:CTCCC:C	acceptor_gain	1.0000

AlphaMissense

3104 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:71437853:A:G	W308R	1.000
11:71437853:A:T	W308R	1.000
11:71438968:A:G	W248R	1.000
11:71438968:A:T	W248R	1.000
11:71437838:A:G	W313R	0.999
11:71437838:A:T	W313R	0.999
11:71437849:C:T	G309D	0.999
11:71437851:C:A	W308C	0.999
11:71437851:C:G	W308C	0.999
11:71437865:A:G	W304R	0.999
11:71437865:A:T	W304R	0.999
11:71437867:C:T	G303E	0.999
11:71437912:T:A	E288V	0.999
11:71438980:C:A	G244W	0.999
11:71439002:C:A	K236N	0.999
11:71439002:C:G	K236N	0.999
11:71439046:C:G	G222R	0.999
11:71435558:G:C	S415R	0.998
11:71435558:G:T	S415R	0.998
11:71435560:T:G	S415R	0.998
11:71435750:G:C	F351L	0.998
11:71435750:G:T	F351L	0.998
11:71435752:A:G	F351L	0.998
11:71437834:A:G	L314P	0.998
11:71437840:A:T	V312D	0.998
11:71437850:C:G	G309R	0.998
11:71437867:C:A	G303V	0.998
11:71437868:C:A	G303W	0.998
11:71437868:C:G	G303R	0.998
11:71437868:C:T	G303R	0.998

dbSNP variants (sampled 300 via entrez): RS1000060515 (11:71434175 G>A), RS1000368645 (11:71449391 C>A), RS1000390692 (11:71448998 G>C,T), RS1000484768 (11:71449138 C>T), RS1000865049 (11:71445225 C>T), RS1001081765 (11:71439935 G>T), RS1001099838 (11:71443997 A>C,G,T), RS1001238766 (11:71434336 C>T), RS1001301126 (11:71437896 C>T), RS1001325672 (11:71437644 C>T), RS1001450142 (11:71438765 G>C,T), RS1001455528 (11:71443072 C>T), RS1001581515 (11:71448266 C>T), RS1001881948 (11:71442734 G>A), RS1001915200 (11:71446999 C>T)

Disease associations

OMIM: gene MIM:602858 | disease phenotypes: MIM:270400

GenCC curated gene-disease

Disease	Classification	Inheritance
Smith-Lemli-Opitz syndrome	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Smith-Lemli-Opitz syndrome	Definitive	AR

Mondo (4): Smith-Lemli-Opitz syndrome (MONDO:0010035), hepatoblastoma (MONDO:0018666), microcephaly (MONDO:0001149), intellectual disability (MONDO:0001071)

Orphanet (3): Smith-Lemli-Opitz syndrome (Orphanet:818), Hepatoblastoma (Orphanet:449), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

181 total (30 of 181 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000046	Small scrotum
HP:0000047	Hypospadias
HP:0000048	Bifid scrotum
HP:0000054	Micropenis
HP:0000062	Ambiguous genitalia
HP:0000074	Ureteropelvic junction obstruction
HP:0000081	Duplicated collecting system
HP:0000089	Renal hypoplasia
HP:0000104	Renal agenesis
HP:0000107	Renal cyst
HP:0000122	Unilateral renal agenesis
HP:0000126	Hydronephrosis
HP:0000154	Wide mouth
HP:0000171	Microglossia
HP:0000175	Cleft palate
HP:0000187	Broad alveolar ridges
HP:0000193	Bifid uvula
HP:0000212	Gingival overgrowth
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000308	Microretrognathia
HP:0000316	Hypertelorism
HP:0000341	Narrow forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000664_2	Vitamin D levels	3.000000e-09
GCST000697_1	Vitamin D insufficiency	2.000000e-27
GCST003155_13	Systemic lupus erythematosus	1.000000e-20
GCST005366_2	Vitamin D levels (dietary vitamin D intake interaction)	2.000000e-31
GCST005367_4	Vitamin D levels	4.000000e-62
GCST005782_5	Serum 25-Hydroxyvitamin D levels	5.000000e-16
GCST011940_3	Bullous pemphigoid	4.000000e-29

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0003762	vitamin D deficiency
EFO:0008539	vitamin D dietary intake measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D018197	Hepatoblastoma	C04.557.435.380
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D019082	Smith-Lemli-Opitz Syndrome	C16.131.077.860; C16.320.565.398.850; C16.320.565.925.875; C18.452.584.500.937; C18.452.584.563.850; C18.452.648.398.850; C18.452.648.925.875

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2169735 (SINGLE PROTEIN), CHEMBL612409 (PROTEIN COMPLEX)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 485,917 (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
CHEMBL53463	DOXORUBICIN	4	314,282
CHEMBL83	TAMOXIFEN	4	171,635

PharmGKB: 1 entry (VIP=true, CPIC=false)

Binding affinities (BindingDB)

181 measured of 181 human assays (181 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
4-((1R,3r,5S,6r)-6-(1-iso- propyl-3-(3-(trifluorometh- yl)phenyl)-1H-pyrazol-5- yl)bicyclo[3.1.0]hexan-3-yl)- morpholine	KI	6.87 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(S)-4-((1R,3r,5S,6S)-6-(1- isopropyl-3-(2-(trifluoro- methyl)pyrimidin-4-yl)-1H- pyrazol-5-yl)bicyclo[3.1.0] hexan-3-yl)-3-methylmor- pholine	KI	7.22 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(3-(2- fluorophenyl)-1-isopropyl- 1H-pyrazol-5-yl)bicyclo [3.1.0]hexan-3-yl)-1,4- oxazepane	KI	7.29 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(1-iso- propyl-3-(4-(trifluorometh- yl)phenyl)-1H-5-yl)bicyclo [3.1.0]hexan-3-yl)morpholine	KI	7.81 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
3-(5-((1R,3r,5S,6r)-3-(1,4- oxazepan-4-yl)bicyclo[3.1.0] hexan-6-yl)-1-isopropyl-1H- pyrazol-3-yl)benzonitrile	KI	8.04 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(3-(3- (difluoromethoxy)phenyl)-1- isopropyl-1H-pyrazol-5-yl)- bicyclo[3.1.0]hexan-3-yl)- 1,4-oxazepane	KI	8.2 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1S,3R)-3-(1-isopropyl-3- (6-(trifluoromethyl)pyridin- 3-yl)-1H-1,2,4-triazol-5-yl)- cyclopentyl)-1,4-oxazepane	KI	8.28 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(1-iso- propyl-3-(3-(trifluorometh- yl)phenyl)-1H-pyrazol-5-yl)- bicyclo[3.1.0]hexan-3-yl)- 1,4-oxazepane	KI	8.64 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(R)-4-((1R,3r,5S,6S)-6-(1- isopropyl-3-(3-(trifluoro- methyl)phenyl)-1H-1,2,4- triazol-5-yl)bicyclo[3.1.0] hexan-3-yl)-3-methylmor- pholine	KI	8.76 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1S,3R)-3-(1-isopropyl-3- (6-(trifluoromethyl)pyridin-3- yl)-1H-1,2,4-triazol-5-yl)- cyclopentyl)morpholine	KI	8.89 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3S)-3-(1-isopropyl-3- (3-(trifluoromethyl)phenyl)- 1H-1,2,4-triazol-5-yl)cyclo- pentyl)morpholine	KI	8.9 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(1-iso- propyl-3-(3-(trifluorometh- oxy)phenyl)-1H-pyrazol-5- yl)bicyclo[3.1.0]hexan-3-yl)- 1,4-oxazepane	KI	9.14 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3s,5S,6r)-6-(1-iso- propyl-3-(3-(trifluorometh- oxy)phenyl)-1H-pyrazol-5- yl)bicyclo[3.1.0]hexan-3-yl)- 1,4-oxazepane	KI	9.63 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1S,3R)-3-(3-(3-fluoro-4- (trifluoromethyl)phenyl)-1- isopropyl-1H-1,2,4-triazol-5- yl)cyclopentyl)morpholine	KI	9.73 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(1-iso- propyl-3-(o-tolyl)-1H- pyrazol-5-yl)bicyclo[3.1.0] hexan-3-yl)-1,4-oxazepane	KI	9.87 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(1-iso- propyl-3-(3-(trifluorometh- yl)phenyl)-1H-1,2,4-triazol- 5-yl)bicyclo[3.1.0]hexan-3- yl)morpholine	KI	9.93 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(1-iso- propyl-3-(4-(trifluorometh- yl)phenyl)-1H-pyrazol-5-yl)- bicyclo[3.1.0]hexan-3-yl)- 1,4-oxazepane	KI	10.1 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(1-ethyl- 3-(5-(trifluoromethyl)pyr- idin-3-yl)-1H-pyrazol-5-yl)- bicyclo[3.1.0]hexan-3-yl)- 1,4-oxazepane	KI	10.6 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(3-(4- fluorophenyl)-1-isopropyl- 1H-pyrazol-5-yl)bicyclo [3.1.0]hexan-3-yl)-1,4- oxazepane	KI	10.6 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1S,3R)-3-(1-isopropyl-3- (3-(trifluoromethyl)phenyl)- 1H-1,2,4-triazol-5-yl)cyclo- pentyl)morpholine	KI	10.9 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
1-((1S,3R)-3-(1-isopropyl-3- (6-(trifluoromethyl)pyridin- 3-yl)-1H-1,2,4-triazol-5-yl) cyclopentyl)-4-(2-methoxy- ethyl)piperazine	KI	10.9 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-(5-((1R,3r,5S,6r)-3-(1,4- oxazepan-4-yl)bicyclo[3.1.0] hexan-6-yl)-1-isopropyl-1H- pyrazol-3-yl)benzonitrile	KI	10.9 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
1-((1R,3R)-3-(1-isopropyl-3- (6-(trifluoromethyl)pyridin- 3-yl)-1H-pyrazol-5-yl)cyclo- pentyl)-4-(2-methoxyethyl)- piperazine	KI	11 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(S)-4-((1R,3s,5S,6S)-6-(1- isopropyl-3-(2-(trifluoro- methyl)pyrimidin-4-yl)-1H- pyrazol-5-yl)bicyclo[3.1.0] hexan-3-yl)-3-methylmor- pholine	KI	11 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(3-(4- (difluoromethoxy)phenyl)-1- isopropyl-1H-pyrazol-5-yl)- bicyclo[3.1.0]hexan-3-yl)- 1,4-oxazepane	KI	11 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(R)-2-ethyl-4-((1R,3S)-3-(3- (5-fluoro-6-(trifluoromethyl)- pyridin-3-yl)-1-isopropyl-1H- 1,2,4-triazol-5-yl)cyclopent- yl)morpholine	KI	11.3 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3s,5S,6r)-6-(3-(3- (difluoromethoxy)phenyl)-1- isopropyl-1H-pyrazol-5-yl)- bicyclo[3.1.0]hexan-3-yl)- 1,4-oxazepane	KI	11.6 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3s,5S,6r)-6-(1-iso- propyl-3-(2-(trifluorometh- yl)pyrimidin-4-yl)-1H-pyr- azol-5-yl)bicyclo[3.1.0] hexan-3-yl)morpholine	KI	11.7 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3s,5S,6r)-6-(1-iso- propyl-3-(6-(trifluorometh- yl)pyrazin-2-yl)-1H-pyrazol- 5-yl)bicyclo[3.1.0]hexan-3- yl)morpholine	KI	11.7 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(3-(3- (difluoromethoxy)phenyl)-1- isopropyl-1H-1,2,4-triazol-5- yl)bicyclo[3.1.0]hexan-3-yl)- 1,4-oxazepane	KI	12 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(1- isopropyl-3-(4-(trifluoro- methoxy)phenyl)-1H-pyr- azol-5-yl)bicyclo[3.1.0] hexan-3-yl)-1,4-oxazepane	KI	12 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1S,3S)-3-(3-(6-fluoro-5- (trifluoromethyl)pyridin-3- yl)-1-isopropyl-1H-1,2,4- triazol-5-yl)cyclopentyl)- morpholine	KI	12.2 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3s,5S,6r)-6-(1-ethyl- 3-(5-(trifluoromethyl)pyridin- 3-yl)-1H-pyrazol-5-yl)bicyclo [3.1.0]hexan-3-yl)-1,4- oxazepane	KI	12.5 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
3-(5-((1R,3s,5S,6r)-3-(1,4- oxazepan-4-yl)bicyclo[3.1.0] hexan-6-yl)-1-isopropyl-1H- pyrazol-3-yl)benzonitrile	KI	12.6 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(3-(3- fluorophenyl)-1-isopropyl- 1H-pyrazol-5-yl)bicyclo [3.1.0]hexan-3-yl)-1,4- oxazepane	KI	12.7 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3s,5S,6r)-6-(3-(3- fluorophenyl)-1-isopropyl- 1H-pyrazol-5-yl)bicyclo [3.1.0]hexan-3-yl)-1,4- oxazepane	KI	12.7 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
1-((1S,3R)-3-(1-isopropyl-3- (6-(trifluoromethyl)pyridin- 3-yl)-1H-pyrazol-5-yl)cyclo- pentyl)-4-(2-methoxyethyl) piperazine	KI	12.8 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1S,3S)-3-(1-isopropyl-3- (5-(trifluoromethyl)pyridin- 3-yl)-1H-pyrazol-5-yl)cyclo- pentyl)-1,4-oxazepane	KI	13.1 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3s,5S,6r)-6-(3-(2- fluorophenyl)-1-isopropyl- 1H-pyrazol-5-yl)bicyclo [3.1.0]hexan-3-yl)-1,4- oxazepane	KI	13.1 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3r,5S,6r)-6-(1-iso- propyl-3-(2-(trifluorometh- yl)pyridin-4-yl)-1H-pyrazol- 5-yl)bicyclo[3.1.0]hexan-3- yl)morpholine	KI	13.4 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3s,5S,6r)-6-(1-iso- propyl-3-(3-(trifluorometh- yl)phenyl)-1H-pyrazol-5-yl)- bicyclo[3.1.0]hexan-3-yl)- 1,4-oxazepane	KI	14.2 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3R)-3-(1-isopropyl-3- (5-(trifluoromethyl)pyridin- 3-yl)-1H-pyrazol-5-yl)cyclo- pentyl)-1,4-oxazepane	KI	14.4 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3R)-3-(3-(3-fluoro-4- (trifluoromethyl)phenyl)-1- isopropyl-1H-1,2,4-triazol-5- yl)cyclopentyl)morpholine	KI	14.7 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(S)-2-ethyl-4-((1R,3S)-3-(1- isopropyl-3-(2-(trifluoro- methyl)pyrimidin-5-yl)-1H- 1,2,4-triazol-5-yl)cyclopent- yl)morpholine	KI	14.8 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(R)-4-((1R,3r,5S,6R)-6-(3- (3-(difluoromethoxy)phenyl)- 1-isopropyl-1H-1,2,4-triazol- 5-yl)bicyclo[3.1.0]hexan-3- yl)-3-methylmorpholine	KI	15 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(R)-4-((1R,3r,5S,6R)-6-(1- isopropyl-3-(2-(trifluoro- methyl)pyrimidin-5-yl)-1H- pyrazol-5-yl)bicyclo[3.1.0] hexan-3-yl)-3-methylmor- pholine	KI	15.1 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
(R)-4-((1R,3r,5S,6R)-6-(1- isopropyl-3-(6-(trifluoro- methyl)pyrimidin-4-yl)-1H- pyrazol-5-yl)bicyclo[3.1.0] hexan-3-yl)-3-methylmor- pholine	KI	15.1 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1S,3S)-3-(1-isopropyl-3- (3-(trifluoromethyl)phenyl)- 1H-1,2,4-triazol-5-yl)cyclo- pentyl)morpholine	KI	15.5 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3s,5S,6r)-6-(3-(5- chloropyridin-3-yl)-1-iso- propyl-1H-pyrazol-5-yl)- bicyclo[3.1.0]hexan-3-yl)- 1,4-oxazepane	KI	15.5 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION
4-((1R,3S)-3-(1-isopropyl-3- (5-(trifluoromethyl)pyridin- 3-yl)-1H-pyrazol-5-yl)cyclo- pentyl)-1,4-oxazepane	KI	15.6 nM	US-20260008775: AZOLE MODULATORS OF CHOLESTEROL BIOSYNTHESIS AND THEIR USE FOR PROMOTING REMYELINATION

ChEMBL bioactivities

37 potent at pChembl≥5 of 39 total, top 36 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.00	IC50	0.1	nM	CHEMBL5281526
9.00	Kd	1	nM	TAMOXIFEN
8.64	IC50	2.3	nM	CHEMBL2172347
8.26	Kd	5.497	nM	CHEMBL5653589
8.26	ED50	5.497	nM	CHEMBL5653589
7.92	IC50	12	nM	TAMOXIFEN
7.85	Kd	14.22	nM	CHEMBL3752910
7.85	ED50	14.22	nM	CHEMBL3752910
7.66	IC50	22	nM	3’-METHOXY-4’HYDROXYCLOMIPHENE
7.52	IC50	30	nM	CHEMBL222694
7.52	IC50	30	nM	CHEMBL5284923
7.50	IC50	32	nM	CHEMBL292185
7.40	IC50	40	nM	CHEMBL222694
7.30	IC50	50	nM	CHEMBL266892
7.22	IC50	60	nM	CHEMBL222694
7.16	IC50	70	nM	CHEMBL266892
7.10	IC50	80	nM	CHEMBL266892
6.92	IC50	120	nM	CHEMBL2172349
6.82	IC50	150	nM	DOXORUBICIN
6.70	IC50	200	nM	DOXORUBICIN
6.52	IC50	300	nM	DOXORUBICIN
6.40	IC50	400	nM	CHEMBL342394
6.30	IC50	500	nM	CHEMBL2172263
6.22	IC50	600	nM	(+)-PACHYSAMINE B
6.22	IC50	600	nM	CHEMBL455316
5.97	IC50	1070	nM	CHEMBL5285995
5.86	IC50	1390	nM	CHEMBL4454956
5.70	IC50	2000	nM	CHEMBL266892
5.69	IC50	2040	nM	CHEMBL5270628
5.55	IC50	2800	nM	CHEMBL457817
5.46	IC50	3500	nM	CHEMBL458033
5.17	IC50	6800	nM	CHEMBL505436
5.14	IC50	7300	nM	CHEMBL2172350
5.13	IC50	7400	nM	CHEMBL456512
5.10	IC50	8000	nM	CHEMBL335133
5.00	IC50	1e+04	nM	DOXORUBICIN

PubChem BioAssay actives

35 with measured affinity, of 160 total; 25 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
4-methyl-1-[1-[4-(4-methylphenyl)phenyl]sulfonylpiperidin-4-yl]piperidine	1923762: Inhibition of DHCR7 (unknown origin)	ic50	0.0001	uM
Tamoxifen	38728: Binding affinity towards antiestrogen binding site AEBS	kd	0.0010	uM
2-[2-(4-chlorophenyl)ethyl]-7-methoxy-3,4-dihydro-1H-isoquinolin-6-ol	703606: Inhibition of 7-dehydroxycholesterol reductase-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate after 24 hrs GC/MS analysis	ic50	0.0023	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148234: Binding affinity to human DHCR7 incubated for 45 mins by Kinobead based pull down assay	kd	0.0055	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148234: Binding affinity to human DHCR7 incubated for 45 mins by Kinobead based pull down assay	kd	0.0142	uM
4-[(Z)-2-chloro-1-[4-[2-(diethylamino)ethoxy]phenyl]-2-phenylethenyl]-2-methoxyphenol	38614: Displacement of [3H]tamoxifen from antiestrogen binding site (AEBS)	ic50	0.0220	uM
2-hydroxy-N-[[[(2S,3S,4S,6R)-3-hydroxy-2-methyl-6-[[(1S,3S)-3,5,12-trihydroxy-3-(2-hydroxyacetyl)-10-methoxy-6,11-dioxo-2,4-dihydro-1H-tetracen-1-yl]oxy]oxan-4-yl]amino]methyl]-5-[(E)-2-[2-[2-[2-[4-[(E)-1-(4-hydroxyphenyl)-2-phenylbut-1-enyl]phenoxy]ethyl-methylamino]ethoxy]ethoxy]ethoxyiminomethyl]benzamide	282019: Growth inhibition of MCF7 cells expressing ER and antiestrogen binding sites	ic50	0.0300	uM
4-methyl-1-[1-(4-propan-2-yloxyphenyl)sulfonylpiperidin-4-yl]piperidine	1923762: Inhibition of DHCR7 (unknown origin)	ic50	0.0300	uM
4-[(E)-1-chloro-2-[4-[2-(diethylamino)ethoxy]phenyl]-2-phenylethenyl]-2-methoxyphenol	38614: Displacement of [3H]tamoxifen from antiestrogen binding site (AEBS)	ic50	0.0320	uM
2-hydroxy-N-[[[(2S,3S,4S,6R)-3-hydroxy-2-methyl-6-[[(1S,3S)-3,5,12-trihydroxy-3-(2-hydroxyacetyl)-10-methoxy-6,11-dioxo-2,4-dihydro-1H-tetracen-1-yl]oxy]oxan-4-yl]amino]methyl]benzamide	282023: Growth inhibition of MDA-MB-435 cells containing antiestrogen binding sites	ic50	0.0500	uM
7-methoxy-2-[2-(3-methoxyphenyl)ethyl]-3,4-dihydro-1H-isoquinolin-6-ol	703606: Inhibition of 7-dehydroxycholesterol reductase-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate after 24 hrs GC/MS analysis	ic50	0.1200	uM
Doxorubicin	282023: Growth inhibition of MDA-MB-435 cells containing antiestrogen binding sites	ic50	0.1500	uM
(1S)-1-[(3S,8S,9S,10R,13S,14S,17S)-3-methoxy-10,13-dimethyl-2,3,4,7,8,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-17-yl]-N,N-dimethylethanamine	402737: Displacement of [3H]tamoxifen from antiestrogen binding site in Sprague-Dawley rat liver by liquid scintillation counting	ic50	0.4000	uM
4-[2-[4-[(E)-3-(4-chlorophenyl)prop-2-enyl]piperazin-1-yl]ethyl]benzoic acid;sulfuric acid	703606: Inhibition of 7-dehydroxycholesterol reductase-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate after 24 hrs GC/MS analysis	ic50	0.5000	uM
N-[(3R,5S,8R,9S,10S,13S,14S,17S)-17-[(1S)-1-(dimethylamino)ethyl]-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-3-yl]-N,3-dimethylbut-2-enamide	402737: Displacement of [3H]tamoxifen from antiestrogen binding site in Sprague-Dawley rat liver by liquid scintillation counting	ic50	0.6000	uM
[(4R,5R,8S,9S,10R,13S,14S,17S)-3-benzamido-17-[(1S)-1-(dimethylamino)ethyl]-10,13-dimethyl-4,5,6,7,8,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-4-yl] acetate	402737: Displacement of [3H]tamoxifen from antiestrogen binding site in Sprague-Dawley rat liver by liquid scintillation counting	ic50	0.6000	uM
N-benzyl-1-(2,4,6-trimethylphenyl)sulfonylpiperidin-4-amine	1923762: Inhibition of DHCR7 (unknown origin)	ic50	1.0700	uM
1-[1-(2,4,6-trimethylphenyl)sulfonylpiperidin-4-yl]azepane	1923762: Inhibition of DHCR7 (unknown origin)	ic50	1.3900	uM
3-[1-(2,4,6-trimethylphenyl)sulfonylpiperidin-4-yl]-1,3-diazabicyclo[2.2.2]octane	1923762: Inhibition of DHCR7 (unknown origin)	ic50	2.0400	uM
(3R)-1-[(5R,8S,9S,10R,13S,14S,17S)-17-[(1S)-1-(dimethylamino)ethyl]-10,13-dimethyl-4-oxo-1,5,6,7,8,9,11,12,14,15,16,17-dodecahydrocyclopenta[a]phenanthren-3-yl]-3-propan-2-ylazetidin-2-one	402737: Displacement of [3H]tamoxifen from antiestrogen binding site in Sprague-Dawley rat liver by liquid scintillation counting	ic50	2.8000	uM
(3R)-1-[(5R,8R,9S,10R,13S,14S,16S,17S)-17-[(1S)-1-(dimethylamino)ethyl]-16-hydroxy-10,13-dimethyl-4-oxo-1,5,6,7,8,9,11,12,14,15,16,17-dodecahydrocyclopenta[a]phenanthren-3-yl]-3-propan-2-ylazetidin-2-one	402737: Displacement of [3H]tamoxifen from antiestrogen binding site in Sprague-Dawley rat liver by liquid scintillation counting	ic50	3.5000	uM
[(2R,3S,4R,5R,8S,9S,10R,13S,14S,17S)-17-[(1S)-1-(dimethylamino)ethyl]-3-(1,3-dioxoisoindol-2-yl)-2-hydroxy-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-4-yl] acetate	402737: Displacement of [3H]tamoxifen from antiestrogen binding site in Sprague-Dawley rat liver by liquid scintillation counting	ic50	6.8000	uM
2-[2-(3,4-dimethoxyphenyl)ethyl]-7-methoxy-3,4-dihydro-1H-isoquinolin-6-ol	703606: Inhibition of 7-dehydroxycholesterol reductase-mediated cholesterol biosynthesis in human HL60 cells assessed as inhibition of 2-[13C]acetate after 24 hrs GC/MS analysis	ic50	7.3000	uM
(3R,5S,8R,9S,10S,13S,14S,17S)-17-[(1S)-1-(dimethylamino)ethyl]-2’,10,13-trimethylspiro[1,2,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,3’-isoindole]-1’-one	402737: Displacement of [3H]tamoxifen from antiestrogen binding site in Sprague-Dawley rat liver by liquid scintillation counting	ic50	7.4000	uM
N-[(5R,8S,9S,10R,13S,14S,17S)-17-[(1S)-1-(dimethylamino)ethyl]-10,13-dimethyl-4-oxo-1,5,6,7,8,9,11,12,14,15,16,17-dodecahydrocyclopenta[a]phenanthren-3-yl]benzamide	402737: Displacement of [3H]tamoxifen from antiestrogen binding site in Sprague-Dawley rat liver by liquid scintillation counting	ic50	8.0000	uM

CTD chemical–gene interactions

111 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	affects cotreatment, affects expression, decreases expression, increases expression	5
7-dehydrocholesterol	increases abundance, increases reduction, decreases activity	4
sodium arsenite	increases expression, decreases expression, increases abundance	4
Cisplatin	affects expression, affects cotreatment, increases expression, decreases expression	4
bisphenol A	affects expression, increases expression	3
perfluorooctane sulfonic acid	decreases expression	3
Benzo(a)pyrene	decreases expression	3
Cholesterol	affects response to substance, decreases abundance, increases chemical synthesis, increases reaction	3
Valproic Acid	affects expression, decreases expression	3
Simvastatin	affects response to substance, affects expression, affects reaction, increases chemical synthesis, increases reaction	3
perfluorooctanoic acid	decreases expression, increases expression	2
cupric chloride	decreases expression	2
BM 15766	decreases activity, increases abundance	2
Acetaminophen	decreases expression	2
Arsenic	affects methylation, decreases expression, increases abundance	2
Estradiol	increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Tretinoin	decreases expression, increases expression	2
Aflatoxin B1	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
febrifugine	decreases expression	1
22-hydroxycholesterol	decreases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
beta-lapachone	decreases expression	1
isoquercitrin	affects cotreatment, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1

ChEMBL screening assays

43 unique, capped per target: 23 functional, 20 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2175720	Binding	Ratio of BM15.766 IC50 to compound IC50 for 7-dehydroxycholesterol reductase-mediated cholesterol biosynthesis in human HL60 cells	A new class of selective and potent 7-dehydrocholesterol reductase inhibitors. — J Med Chem
CHEMBL646778	Functional	Relative binding affinity(RBA) against AEBS (Antiestrogen binding site) using EL-4 cells	Synthesis of 2-(p-chlorobenzyl)-3-aryl-6-methoxybenzofurans as selective ligands for antiestrogen-binding sites. Effects on cell proliferation and cholesterol synthesis. — J Med Chem

Cellosaurus cell lines

5 cell lines: 3 cancer cell line, 1 finite cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_7439	GM05788	Finite cell line	Female
CVCL_7440	GM05789	Transformed cell line	Female
CVCL_B1Q3	Abcam HeLa DHCR7 KO	Cancer cell line	Female
CVCL_SK76	HAP1 DHCR7 (-) 1	Cancer cell line	Male
CVCL_XN23	HAP1 DHCR7 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

283 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02933333	PHASE4	UNKNOWN	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT03017326	PHASE3	ACTIVE_NOT_RECRUITING	Paediatric Hepatic International Tumour Trial
NCT03533582	PHASE3	ACTIVE_NOT_RECRUITING	Cisplatin and Combination Chemotherapy in Treating Children and Young Adults With Hepatoblastoma or Liver Cancer After Surgery
NCT04478292	PHASE3	RECRUITING	A Multi-institutional Study for Treatment of Children With Newly Diagnosed Hepatoblastoma Using a Modified PHITT Strategy
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT00004347	PHASE2	UNKNOWN	Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome
NCT00064792	PHASE2	COMPLETED	Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
NCT00114634	PHASE2	COMPLETED	Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
NCT01110642	PHASE2	WITHDRAWN	Novel Treatment for Syndromic Ichthyoses
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT01154816	PHASE2	COMPLETED	Alisertib in Treating Young Patients With Recurrent or Refractory Solid Tumors or Leukemia
NCT02011126	PHASE2	WITHDRAWN	Imetelstat Sodium in Treating Younger Patients With Relapsed or Refractory Solid Tumors
NCT02867592	PHASE2	ACTIVE_NOT_RECRUITING	Cabozantinib-S-Malate in Treating Younger Patients With Recurrent, Refractory, or Newly Diagnosed Sarcomas, Wilms Tumor, or Other Rare Tumors
NCT03155620	PHASE2	ACTIVE_NOT_RECRUITING	Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)
NCT03210714	PHASE2	ACTIVE_NOT_RECRUITING	Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213652	PHASE2	ACTIVE_NOT_RECRUITING	Ensartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial)
NCT03213665	PHASE2	COMPLETED	Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial)
NCT03213678	PHASE2	COMPLETED	Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213704	PHASE2	ACTIVE_NOT_RECRUITING	Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial)
NCT03220035	PHASE2	COMPLETED	Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial)
NCT03233204	PHASE2	COMPLETED	Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial)
NCT03526250	PHASE2	COMPLETED	Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial)
NCT03698994	PHASE2	ACTIVE_NOT_RECRUITING	Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)
NCT04195555	PHASE2	ACTIVE_NOT_RECRUITING	Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial)
NCT04284774	PHASE2	ACTIVE_NOT_RECRUITING	Tipifarnib for the Treatment of Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With HRAS Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04320888	PHASE2	ACTIVE_NOT_RECRUITING	Selpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial
NCT05302921	PHASE2	COMPLETED	Neoadjuvant Dual Checkpoint Inhibition and Cryoablation in Relapsed/Refractory Pediatric Solid Tumors
NCT06638931	PHASE2	RECRUITING	Agnostic Therapy in Rare Solid Tumors
NCT07300449	PHASE2	RECRUITING	A Prospective Multicenter Clinical Study of SCCG Protocol and ctDNA 5hmc in Predicting the Chemotherapy Sensitivity and Monitoring the Recurrence and Metastasis of Hepatoblastoma in Children and Adolescents
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT01331135	PHASE1	COMPLETED	Aflac ST0901 CHOANOME - Sirolimus in Solid Tumors
NCT02390843	PHASE1	COMPLETED	Simvastatin With Topotecan and Cyclophosphamide in Relapsed and/or Refractory Pediatric Solid and CNS Tumors
NCT03618381	PHASE1	ACTIVE_NOT_RECRUITING	EGFR806 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults