APOB

Summary

APOB (apolipoprotein B, HGNC:603) is a protein-coding gene on chromosome 2p24.1, encoding Apolipoprotein B-100 (P04114). Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). It is haploinsufficient (ClinGen: sufficient evidence).

This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels.

Source: NCBI Gene 338 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypercholesterolemia, autosomal dominant, type B (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 163
• Clinical variants (ClinVar): 5,090 total — 164 pathogenic, 71 likely-pathogenic
• Phenotypes (HPO): 52
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000384

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:603
Approved symbol	APOB
Name	apolipoprotein B
Location	2p24.1
Locus type	gene with protein product
Status	Approved
Aliases	ApoB-100
Ensembl gene	ENSG00000084674
Ensembl biotype	protein_coding
OMIM	107730
Entrez	338

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 nonsense_mediated_decay

ENST00000233242, ENST00000399256, ENST00000673739, ENST00000673882

RefSeq mRNA: 1 — MANE Select: NM_000384 NM_000384

CCDS: CCDS1703

Canonical transcript exons

ENST00000233242 — 29 exons

Exon	Start	End
ENSE00000542194	21022831	21023042
ENSE00000542197	21016439	21016649
ENSE00000542198	21015370	21015545
ENSE00000542200	21014448	21014593
ENSE00000542203	21004561	21004675
ENSE00000716597	21004269	21004452
ENSE00000717143	21013160	21013533
ENSE00000717361	21015073	21015260
ENSE00000717995	21018992	21019113
ENSE00000718108	21019723	21019905
ENSE00000718481	21023525	21023692
ENSE00000718984	21027828	21028065
ENSE00000719046	21028327	21028538
ENSE00000808795	21001429	21003334
ENSE00000932261	21043513	21043551
ENSE00000932262	21042361	21042476
ENSE00000932263	21040938	21041083
ENSE00000932264	21037958	21038111
ENSE00000932265	21037100	21037255
ENSE00000932266	21035584	21035708
ENSE00000932267	21034816	21034901
ENSE00000932268	21033299	21033518
ENSE00000932269	21032354	21032581
ENSE00000932270	21029898	21030015
ENSE00000932271	21029639	21029785
ENSE00000932272	21026788	21026964
ENSE00000932273	21024933	21025124
ENSE00000999274	21043864	21044073
ENSE00001183453	21005080	21012651

Expression profiles

Bgee: expression breadth ubiquitous, 116 present calls, max score 99.95.

FANTOM5 (CAGE): breadth broad, TPM avg 30.3554 / max 5798.7888, expressed in 199 samples.

FANTOM5 promoters (86 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27277	26.2482	163
27275	0.1881	41
27207	0.1784	40
27161	0.1720	34
27173	0.1507	34
27205	0.1497	37
27163	0.1256	29
27208	0.1179	29
27203	0.1175	27
27274	0.1001	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	99.95	gold quality
liver	UBERON:0002107	99.54	gold quality
ileal mucosa	UBERON:0000331	99.16	gold quality
ileum	UBERON:0002116	99.13	silver quality
right lobe of liver	UBERON:0001114	99.07	gold quality
duodenum	UBERON:0002114	95.65	gold quality
small intestine	UBERON:0002108	86.15	gold quality
small intestine Peyer’s patch	UBERON:0003454	85.38	gold quality
jejunum	UBERON:0002115	82.47	gold quality
heart right ventricle	UBERON:0002080	77.40	gold quality
right atrium auricular region	UBERON:0006631	74.18	gold quality
cardiac atrium	UBERON:0002081	74.10	gold quality
myocardium	UBERON:0002349	73.03	silver quality
cardiac ventricle	UBERON:0002082	72.19	gold quality
heart left ventricle	UBERON:0002084	72.19	gold quality
cardiac muscle of right atrium	UBERON:0003379	70.77	silver quality
adrenal tissue	UBERON:0018303	70.74	gold quality
heart	UBERON:0000948	70.59	gold quality
left ventricle myocardium	UBERON:0006566	68.16	silver quality
descending thoracic aorta	UBERON:0002345	66.51	gold quality
blood vessel layer	UBERON:0004797	65.71	gold quality
thoracic aorta	UBERON:0001515	65.59	gold quality
ascending aorta	UBERON:0001496	65.28	gold quality
aorta	UBERON:0000947	64.58	gold quality
colonic epithelium	UBERON:0000397	64.04	silver quality
popliteal artery	UBERON:0002250	63.73	gold quality
tibial artery	UBERON:0007610	63.62	gold quality
apex of heart	UBERON:0002098	62.86	gold quality
buccal mucosa cell	CL:0002336	62.30	silver quality
synovial joint	UBERON:0002217	62.08	silver quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-130473	yes	5335.23
E-CURD-98	yes	5242.96
E-MTAB-9543	yes	4346.42
E-GEOD-125970	yes	1351.65
E-MTAB-10553	yes	1256.47
E-HCAD-9	yes	64.55
E-MTAB-9388	yes	10.59
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, ATF3, CEBPA, CEBPB, CEBPG, ESR1, FOXA1, FOXA2, FOXM1, HNF1A, HNF4A, NR0B2, NR2F1, NR2F2, NR2F6, PITX2, PPARA, PPARD, PPARG, RAD21, RERE, SP1, TP53

miRNA regulators (miRDB)

27 targeting APOB, 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-3646	100.00	73.56	5283
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-4699-5P	98.99	67.50	1210
HSA-MIR-6737-3P	98.95	68.56	1577
HSA-MIR-7157-3P	98.95	68.70	1582
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-5008-3P	98.73	67.50	1433
HSA-MIR-6529-3P	98.68	66.76	1020
HSA-MIR-1237-3P	98.55	67.65	1423
HSA-MIR-4766-3P	98.48	67.94	1347
HSA-MIR-4432	97.80	67.87	705
HSA-MIR-615-3P	90.62	68.07	69

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• C–>U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme (PMID:11727199)
• defective gene causes hypercholesterolemia ) (PMID:11833852)
• Polymorphisms do not contribute substantially to the risk of holoprosencephaly (PMID:11857554)
• The T-allele of apolipoprotein b codon 2488 polymorphism influenced parameters related to the insulin resistance syndrome (PMID:11869298)
• Inhibition of cholesterol esterification with ACAT inhibitor significantly attenuated apoB48 secretion under basal and stimulatory conditions by a mechanism which enhanced apoB48 degradation. (PMID:11882317)
• There is a higher prevalence of an XbaI polymorphism in patients with severe aortic valve stenosis (PMID:11903341)
• hypobetalipoproteinemia due to a mutation affecting the splicing of the APOB gene encoding apolipoprotein B (PMID:11940084)
• The effect of six polymorphisms in the Apolipoprotein B gene on parameters of lipid metabolism (PMID:11940087)
• Mutations in apoB on LDL give rise to a phenotype of elevated LDL cholesterol. Disturbances in IDL metabolism provide the basis for understanding why FDB is less severe than FH. The apoB-LDL receptor interaction is important in the IDL to LDL conversion. (PMID:11947895)
• APOA1 to APOB ratio is related to myocardial infarction and stroke (PMID:12011770)
• Influence of an asparagine to lysine mutation at amino acid 3516 of apolipoprotein B on low-density lipoprotein receptor binding. (PMID:12031600)
• A p38-MAPK-activating property of LDL resides in the B-site of apoB100 which binds to a platlet receptor, causing platelet activation. (PMID:12038793)
• Identification of the proteoglycan binding site (PMID:12070165)
• Novel mutations of APOB cause ApoB truncations shorter than apoB-30 and are not detectable in plasma from familial hypobetalipoproteinemia patients. (PMID:12124991)
• ApoB expression is regulated by TGF-beta and other cytokines (PMID:12177061)
• The flavonoid quercetin bound to LDL lipoproteins can efficiently repair oxidative damage to amino acid constituents of apoB-100 in LDL. (PMID:12206678)
• R3500Q mutation of the apolipoprotein B gene, a common cause of FH in central Europe, is infrequent in the general Spanish population, but it is common in Galicia (PMID:12208478)
• Adenoviral vector-mediated SR-BI overexpression in livers of human apoB transgenic mice reduced plasma HDL-cholesterol and apolipoprotein A-I (but not apoB) concentrations to nearly undetectable levels 3 days after adenovirus infusion (PMID:12235173)
• correct folding of apoB is dependent on the assistance of molecular chaperones (PMID:12397072)
• APOB genotype was evaluated for an association between infant genetic variation and the risk for spina bifida cystica (PMID:12397634)
• the conformation of apoB on the LDL surface depends strongly on the physical state of the lipoprotein core, and less on the lipid composition of the core per se (PMID:12505152)
• in overweight/obese men, the quantity of adipose tissue mass determines the kinetics of very-low-density-lipoprotein-apolipoprotein B-100 (PMID:12529498)
• This protein is found in cholesterol-containing drusen and basal deposits of human eyes with age-related maculopathy. (PMID:12547700)
• A novel nontruncating gene mutation, R463W, causes familial hypobetalipoproteinemia. (PMID:12551903)
• Data show that purified pH6 antigen selectively binds to apolipoprotein B (apoB)-containing lipoproteins in human plasma, mainly LDL. (PMID:12576514)
• apoB48 can assemble lipoproteins even without being palmitoylated (PMID:12582154)
• demonstrate that GP78 is a bona fide E3 ligase in the apoB ER-associated degradation pathway (PMID:12670940)
• SP-24/24 genotype of Apo B signal peptide is a linkage marker for a gene conferring increased risk of type II diabetes. (PMID:12736910)
• SREBP1a and APOB have roles in total and low-density lipoprotein cholesterol levels in patients with coronary artery disease (PMID:12752570)
• APO B gene polymorphism is strongly related to the incidence of coronary artery diseases and myocardial infarction. (PMID:12818419)
• Four novel APOB mutations associated with familial hypobetalipoproteinemia. (PMID:12872264)
• data suggest that the relationship between apoB levels, hypercholesterolemia and ischemic heart disease risk cannot have a simple molecular basis in the apoB gene (PMID:12942366)
• Double transgenic mice expressing both apoB-100K4–>S4 and apo[a] contained significant amounts of free apo[a] in the plasma, indicating a less-efficient assembly of Lipoprotein[a] in vivo (PMID:13130121)
• Data support the hypothesis of increased biliary catabolism of cholesterol in subjects with gallbladder disease characterized by lower Apo B and higher Apo A-I serum concentrations. (PMID:14567398)
• There seems to be an association between APOB Xbai polymorphism and gallbladder cancer. (PMID:14618390)
• Site A in apoB100 becomes functional in sPLA2-modified LDL and acts cooperatively with site B resulting in increased proteoglycan-binding activity. The increased binding for proteoglycans of cholesterol-enriched LDL is solely dependent on site B. (PMID:14726411)
• elevation of plasma LDL-cholesterol found in familial hypercholesterolemia is attributable to both decreased clearance of LDL and increased hepatic production of apoB-100-containing lipoproteins (PMID:14967814)
• because apoB-defective familial hypobetalipoproteinemia imparts heightened susceptibility to liver triglyceride accumulation, increasing intraperitoneal adipose tissue and insulin resistance exert greater liver fat-increasing effects in FHBL. (PMID:14967820)
• Allele-specific association between the 3’APOB-VNTR variability and lipid blood levels. (PMID:15028112)
• apoE deficiency results in: impaired catabolism of VLDL/chylomicron and their remnants; 2) an increased rate of catabolism of LDL apoB-100; 3) reduced VLDL apoB production; and 4) a delayed catabolism of Lp(a) (PMID:15102883)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	apobb.1	ENSDARG00000022767
danio_rerio	apoba	ENSDARG00000042780
danio_rerio	apobb.2	ENSDARG00000075016
mus_musculus	Apob	ENSMUSG00000020609
rattus_norvegicus	Apob	ENSRNOG00000005542

Protein

Protein identifiers

Apolipoprotein B-100 — P04114 (reviewed: P04114)

All UniProt accessions (3): P04114, A0A669KB70, A8MUN2

UniProt curated annotations — full annotation on UniProt →

Function. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.

Subunit / interactions. Interacts with PCSK9. Interacts with MTTP. Interacts with AUP1. Interacts with CIDEB.

Subcellular location. Cytoplasm. Secreted. Lipid droplet.

Post-translational modifications. Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle.

Disease relevance. Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558] A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. The disease is caused by variants affecting the gene represented in this entry. Most cases of FHBL1 result from nonsense mutations in the APOB gene that lead to a premature stop codon, which generate prematurely truncated apo B protein products. Hypercholesterolemia, familial, 2 (FHCL2) [MIM:144010] A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.

Induction. Up-regulated in response to enterovirus 71 (EV71) infection (at protein level).

Polymorphism. Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIM:615558].

RefSeq proteins (1): NP_000375* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001747	Vitellogenin_N	Domain
IPR009454	Lipid_transpt_open_b-sht	Domain
IPR011030	Lipovitellin_superhlx_dom	Homologous_superfamily
IPR015255	Vitellinogen_open_b-sht	Domain
IPR015816	Vitellinogen_b-sht_N	Homologous_superfamily
IPR015817	Vitellinogen_open_b-sht_sub1	Homologous_superfamily
IPR015819	Lipid_transp_b-sht_shell	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR022176	ApoB100_C	Domain
IPR052418	Apolipoprotein_B	Family

Pfam: PF01347, PF06448, PF09172, PF12491

UniProt features (160 total): sequence variant 65, sequence conflict 46, glycosylation site 19, region of interest 9, disulfide bond 8, mutagenesis site 4, modified residue 4, chain 2, signal peptide 1, lipid moiety-binding region 1, domain 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
9COO	ELECTRON MICROSCOPY	3.73
9BDE	ELECTRON MICROSCOPY	4.18
9BD8	ELECTRON MICROSCOPY	4.8
9BD1	ELECTRON MICROSCOPY	5.4
9BDT	ELECTRON MICROSCOPY	5.4
9E9R	ELECTRON MICROSCOPY	9
9EA7	ELECTRON MICROSCOPY	9
9EAG	ELECTRON MICROSCOPY	9

Predicted structure (AlphaFold)

No AlphaFold model available for P04114 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5): 2004, 3279, 4048, 4052, 1112

Disulfide bonds (8): 39–88, 78–97, 186–212, 245–261, 385–390, 478–513, 966–976, 3194–3324

Glycosylation sites (19): 34, 185, 983, 1368, 1377, 1523, 2239, 2560, 2779, 2982, 3101, 3224, 3336, 3358, 3411, 3465, 3895, 4237, 4431

Mutagenesis-validated functional residues (4):

Position	Phenotype
483	impairs protein secretion.
483	does not affect protein secretion.
490	impairs protein secretion.
490	does not affect protein secretion.

Function

Pathways and Gene Ontology

Reactome pathways

42 pathways

ID	Pathway
R-HSA-202733	Cell surface interactions at the vascular wall
R-HSA-3000471	Scavenging by Class B Receptors
R-HSA-3000480	Scavenging by Class A Receptors
R-HSA-3000484	Scavenging by Class F Receptors
R-HSA-3000497	Scavenging by Class H Receptors
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-432142	Platelet sensitization by LDL
R-HSA-5686938	Regulation of TLR by endogenous ligand
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-8866423	VLDL assembly
R-HSA-8957275	Post-translational protein phosphorylation
R-HSA-8963888	Chylomicron assembly
R-HSA-8963901	Chylomicron remodeling
R-HSA-8964026	Chylomicron clearance
R-HSA-8964038	LDL clearance
R-HSA-8964041	LDL remodeling
R-HSA-8964046	VLDL clearance
R-HSA-9707616	Heme signaling
R-HSA-975634	Retinoid metabolism and transport
R-HSA-109582	Hemostasis
R-HSA-1430728	Metabolism
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-168898	Toll-like Receptor Cascades
R-HSA-174824	Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-196854	Metabolism of vitamins and cofactors
R-HSA-199991	Membrane Trafficking
R-HSA-2173782	Binding and Uptake of Ligands by Scavenger Receptors
R-HSA-2187338	Visual phototransduction

MSigDB gene sets: 402 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIPOPROTEIN_PARTICLE_STIMULUS, MODULE_52, GOBP_REGULATION_OF_LIPID_STORAGE, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, REACTOME_INNATE_IMMUNE_SYSTEM, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_STEROL_HOMEOSTASIS, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, MODULE_64, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_ARTERY_DEVELOPMENT, GOBP_PROTEIN_LIPID_COMPLEX_ASSEMBLY, GOBP_MALE_GAMETE_GENERATION, REACTOME_MEMBRANE_TRAFFICKING, GOBP_POSITIVE_REGULATION_OF_MACROPHAGE_DERIVED_FOAM_CELL_DIFFERENTIATION

GO Biological Process (34): in utero embryonic development (GO:0001701), triglyceride mobilization (GO:0006642), spermatogenesis (GO:0007283), nervous system development (GO:0007399), cholesterol metabolic process (GO:0008203), fertilization (GO:0009566), response to virus (GO:0009615), post-embryonic development (GO:0009791), positive regulation of gene expression (GO:0010628), positive regulation of macrophage derived foam cell differentiation (GO:0010744), positive regulation of lipid storage (GO:0010884), positive regulation of cholesterol storage (GO:0010886), triglyceride catabolic process (GO:0019433), cholesterol transport (GO:0030301), flagellated sperm motility (GO:0030317), cholesterol efflux (GO:0033344), low-density lipoprotein particle remodeling (GO:0034374), very-low-density lipoprotein particle assembly (GO:0034379), low-density lipoprotein particle clearance (GO:0034383), lipoprotein biosynthetic process (GO:0042158), lipoprotein catabolic process (GO:0042159), cholesterol homeostasis (GO:0042632), lipoprotein transport (GO:0042953), regulation of cholesterol biosynthetic process (GO:0045540), artery morphogenesis (GO:0048844), establishment of localization in cell (GO:0051649), cellular response to lipoprotein particle stimulus (GO:0071402), lipid metabolic process (GO:0006629), lipid transport (GO:0006869), signal transduction (GO:0007165), steroid metabolic process (GO:0008202), lipid catabolic process (GO:0016042), lipoprotein metabolic process (GO:0042157), cellular response to amyloid-beta (GO:1904646)

GO Molecular Function (8): phospholipid binding (GO:0005543), heparin binding (GO:0008201), lipase binding (GO:0035473), receptor ligand activity (GO:0048018), low-density lipoprotein particle receptor binding (GO:0050750), cholesterol transfer activity (GO:0120020), lipid carrier activity (GO:0005319), protein binding (GO:0005515)

GO Cellular Component (26): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), early endosome (GO:0005769), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), smooth endoplasmic reticulum (GO:0005790), lipid droplet (GO:0005811), cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), clathrin-coated endocytic vesicle membrane (GO:0030669), endosome lumen (GO:0031904), mature chylomicron (GO:0034359), chylomicron remnant (GO:0034360), very-low-density lipoprotein particle (GO:0034361), low-density lipoprotein particle (GO:0034362), intermediate-density lipoprotein particle (GO:0034363), chylomicron (GO:0042627), neuronal cell body (GO:0043025), lysosomal lumen (GO:0043202), intracellular membrane-bounded organelle (GO:0043231), extracellular exosome (GO:0070062), endoplasmic reticulum exit site (GO:0070971), endocytic vesicle lumen (GO:0071682), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Binding and Uptake of Ligands by Scavenger Receptors	4
Plasma lipoprotein clearance	3
Plasma lipoprotein assembly	2
Plasma lipoprotein remodeling	2
Hemostasis	1
Metabolism of proteins	1
Platelet homeostasis	1
Toll-like Receptor Cascades	1
Clathrin-mediated endocytosis	1
Membrane Trafficking	1
Post-translational protein modification	1
Cellular responses to stress	1
Visual phototransduction	1
Metabolism of fat-soluble vitamins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
endosome	3
triglyceride metabolic process	2
endoplasmic reticulum	2
intracellular organelle lumen	2
chylomicron	2
triglyceride-rich plasma lipoprotein particle	2
plasma lipoprotein particle	2
chordate embryonic development	1
developmental process involved in reproduction	1
male gamete generation	1
system development	1
sterol metabolic process	1
secondary alcohol metabolic process	1
sexual reproduction	1
reproductive process	1
response to other organism	1
multicellular organism development	1
multicellular organismal process	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
macrophage derived foam cell differentiation	1
regulation of macrophage derived foam cell differentiation	1
positive regulation of cell differentiation	1
regulation of lipid storage	1
lipid storage	1
positive regulation of cellular process	1
positive regulation of lipid localization	1
cholesterol storage	1
positive regulation of lipid storage	1
regulation of cholesterol storage	1
acylglycerol catabolic process	1
sterol transport	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
cholesterol transport	1
plasma lipoprotein particle remodeling	1
plasma lipoprotein particle assembly	1

Protein interactions and networks

STRING

4882 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APOB	APOA1	P02647	999
APOB	APOE	P02649	999
APOB	LPA	P08519	999
APOB	MTTP	P55157	999
APOB	APOC3	P02656	996
APOB	SCARB1	Q8WTV0	990
APOB	APOC1	P02654	986
APOB	PCSK9	Q8NBP7	986
APOB	APOA2	P02652	985
APOB	APOA4	P06727	964
APOB	APOBEC1	P41238	962
APOB	CETP	P11597	959
APOB	LIPC	P11150	940
APOB	LCAT	P04180	938
APOB	APOBR	Q0VD83	937

IntAct

142 interactions, top by confidence:

A	B	Type	Score
YBX1	HNRNPR	psi-mi:“MI:0915”(physical association)	0.770
EGFR	CTNND1	psi-mi:“MI:0914”(association)	0.750
MTTP	APOB	psi-mi:“MI:0915”(physical association)	0.700
AUP1	APOB	psi-mi:“MI:0403”(colocalization)	0.610
AUP1	APOB	psi-mi:“MI:2364”(proximity)	0.610
AUP1	APOB	psi-mi:“MI:0914”(association)	0.610
APOB	LDLR	psi-mi:“MI:0407”(direct interaction)	0.560
LDLR	APOB	psi-mi:“MI:0407”(direct interaction)	0.560
RAD21	PDS5B	psi-mi:“MI:0914”(association)	0.530
RPN2	SMPD2	psi-mi:“MI:0914”(association)	0.530
MFSD4A	HIP1R	psi-mi:“MI:0914”(association)	0.530
SMPD3	ENDOD1	psi-mi:“MI:0914”(association)	0.530
SLC10A7	APOB	psi-mi:“MI:0914”(association)	0.530
ZDHHC11	APOB	psi-mi:“MI:0914”(association)	0.530
APOB	VCP	psi-mi:“MI:0914”(association)	0.530
YIPF3	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SCAMP2	SCAMP3	psi-mi:“MI:0914”(association)	0.530
APOB		psi-mi:“MI:0915”(physical association)	0.500
APOB		psi-mi:“MI:0915”(physical association)	0.490
	APOB	psi-mi:“MI:0915”(physical association)	0.490

BioGRID (220): APOB (Affinity Capture-MS), APOB (Affinity Capture-MS), APOB (Affinity Capture-MS), APOB (Affinity Capture-MS), APOB (Affinity Capture-MS), APOB (Affinity Capture-MS), APOB (Affinity Capture-MS), APOB (Affinity Capture-MS), APOB (Affinity Capture-MS), APOB (Affinity Capture-MS), MTTP (Two-hybrid), PSMD14 (Co-fractionation), CALR (Affinity Capture-RNA), APOB (Affinity Capture-MS), APOB (Affinity Capture-MS)

ESM2 similar proteins: A0A0N6WHT4, A0A0R4IVV0, A4IH88, D4A1W8, E9Q414, F1PCT7, O08601, O75787, P02845, P04114, P05690, P06125, P18709, P18947, P18948, P25235, P55155, P55156, P55157, P55158, P81134, P87498, Q05808, Q25490, Q27309, Q2VQM5, Q2VQM6, Q3SZI6, Q3UUQ7, Q5R563, Q6AXS4, Q6DDG2, Q6RG02, Q765A7, Q7TMA5, Q7Z1M0, Q865F1, Q868N5, Q90243, Q90508

Diamond homologs: E9Q414, P04114, P17165, Q7TMA5, P11682, P02845, P18709, P19009, P19010, P19011, P87498, Q90243, Q90508, Q91025, Q91062, Q92093, Q98893, P06125, P18947, Q9N4J2, A0MEB5, A5PK16, P04962, P14785, P18606, P20248, P24871, P30274, P37881, P41002, P43449, P47827, P51943, P51944, P51986, Q0INT0, Q10653, Q2QN26, Q38819, Q39071

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
HBB	“up-regulates quantity by stabilization”	APOB
HBA1	“up-regulates quantity by stabilization”	APOB
INS	“down-regulates quantity by destabilization”	APOB
APOB	up-regulates	VLDL_assembly
APOB	up-regulates	LDL_assembly
mTORC1	“down-regulates quantity by repression”	APOB	“translation regulation”
MTTP	“up-regulates activity”	APOB	lipidation
RAD21	“down-regulates quantity”	APOB	“transcriptional regulation”
AMFR	“down-regulates quantity by destabilization”	APOB	ubiquitination
APOB	up-regulates	LDLR	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

5090 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	164
Likely pathogenic	71
Uncertain significance	2011
Likely benign	1831
Benign	61

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068824	NM_000384.3(APOB):c.9615del (p.Asp3205fs)	Pathogenic
1070406	NM_000384.3(APOB):c.7699C>T (p.Gln2567Ter)	Pathogenic
1070659	NM_000384.3(APOB):c.6403del (p.Val2135fs)	Pathogenic
1071546	NM_000384.3(APOB):c.8594dup (p.Asn2865fs)	Pathogenic
1299572	NM_000384.3(APOB):c.1003del (p.Lys334_Leu335insTer)	Pathogenic
1299586	NM_000384.3(APOB):c.11397del (p.Lys3799fs)	Pathogenic
1323322	NM_000384.3(APOB):c.1315C>T (p.Arg439Ter)	Pathogenic
1323360	NM_000384.3(APOB):c.4991del (p.Leu1664fs)	Pathogenic
1364654	NM_000384.3(APOB):c.8075_8076dup (p.Leu2693fs)	Pathogenic
1369494	NM_000384.3(APOB):c.2979T>A (p.Tyr993Ter)	Pathogenic
1386291	NM_000384.3(APOB):c.7489C>T (p.Gln2497Ter)	Pathogenic
1402036	NM_000384.3(APOB):c.331_332del (p.Ala111fs)	Pathogenic
1406951	NM_000384.3(APOB):c.9960del (p.Phe3320fs)	Pathogenic
1416136	NM_000384.3(APOB):c.11532del (p.Asn3845fs)	Pathogenic
1416940	NM_000384.3(APOB):c.1998C>A (p.Tyr666Ter)	Pathogenic
1432825	NM_000384.3(APOB):c.11465del (p.Val3822fs)	Pathogenic
1453164	NM_000384.3(APOB):c.7966_7969del (p.Phe2656fs)	Pathogenic
1454956	NM_000384.3(APOB):c.10327G>T (p.Glu3443Ter)	Pathogenic
1455782	NM_000384.3(APOB):c.8528_8531dup (p.Phe2845fs)	Pathogenic
1456415	NM_000384.3(APOB):c.7704T>G (p.Tyr2568Ter)	Pathogenic
1458186	NM_000384.3(APOB):c.1258G>T (p.Glu420Ter)	Pathogenic
150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	Pathogenic
1678797	NM_000384.3(APOB):c.9632dup (p.Asn3211fs)	Pathogenic
1685525	NM_000384.3(APOB):c.13392_13393del (p.Lys4465fs)	Pathogenic
1685526	NM_000384.3(APOB):c.9152_9155del (p.Asn3051fs)	Pathogenic
1685528	NC_000002.12:g.21043539_21043552del	Pathogenic
1704963	NM_000384.3(APOB):c.11330C>A (p.Ser3777Ter)	Pathogenic
1705571	NM_000384.3(APOB):c.904+2T>C	Pathogenic
17881	NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs)	Pathogenic
17882	NM_000384.3(APOB):c.5463del (p.His1822fs)	Pathogenic

SpliceAI

3282 predictions. Top by Δscore:

Variant	Effect	Δscore
2:21003330:GAGGA:G	acceptor_gain	1.0000
2:21003331:AGGA:A	acceptor_gain	1.0000
2:21003332:GGA:G	acceptor_gain	1.0000
2:21003333:GA:G	acceptor_gain	1.0000
2:21003335:C:CC	acceptor_gain	1.0000
2:21003340:C:CT	acceptor_gain	1.0000
2:21003341:A:T	acceptor_gain	1.0000
2:21004264:TTTA:T	donor_loss	1.0000
2:21004265:TTA:T	donor_loss	1.0000
2:21004266:TA:T	donor_loss	1.0000
2:21004267:A:AC	donor_gain	1.0000
2:21004268:C:A	donor_loss	1.0000
2:21004268:C:CC	donor_gain	1.0000
2:21004448:ATTCC:A	acceptor_gain	1.0000
2:21004449:TTCC:T	acceptor_gain	1.0000
2:21004450:TCC:T	acceptor_gain	1.0000
2:21004451:CC:C	acceptor_gain	1.0000
2:21004451:CCC:C	acceptor_gain	1.0000
2:21004452:CC:C	acceptor_gain	1.0000
2:21004559:A:AC	donor_gain	1.0000
2:21004560:C:CC	donor_gain	1.0000
2:21004563:AAGT:A	donor_gain	1.0000
2:21004566:T:TA	donor_gain	1.0000
2:21013155:CTCA:C	donor_loss	1.0000
2:21013158:ACC:A	donor_loss	1.0000
2:21013159:C:G	donor_loss	1.0000
2:21014444:TTAC:T	donor_loss	1.0000
2:21014446:ACC:A	donor_loss	1.0000
2:21014589:ATTGC:A	acceptor_gain	1.0000
2:21014590:TTGC:T	acceptor_gain	1.0000

AlphaMissense

30213 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:21038024:C:A	K157N	0.988
2:21038024:C:G	K157N	0.988
2:21042366:A:G	C78R	0.984
2:21042438:A:C	Y54D	0.984
2:21041076:A:G	L82P	0.983
2:21013284:G:C	S1364R	0.981
2:21013284:G:T	S1364R	0.981
2:21013286:T:G	S1364R	0.981
2:21029677:C:G	A527P	0.981
2:21041032:A:G	C97R	0.981
2:21037158:C:G	C212S	0.980
2:21037159:A:T	C212S	0.980
2:21038030:G:C	N155K	0.980
2:21038030:G:T	N155K	0.980
2:21037235:G:C	C186W	0.979
2:21011732:A:C	S1712R	0.976
2:21011732:A:T	S1712R	0.976
2:21011734:T:G	S1712R	0.976
2:21015237:A:G	W1178R	0.976
2:21015237:A:T	W1178R	0.976
2:21032368:G:C	S446R	0.976
2:21032368:G:T	S446R	0.976
2:21032370:T:G	S446R	0.976
2:21037236:C:G	C186S	0.976
2:21037237:A:T	C186S	0.976
2:21035620:C:G	C261S	0.975
2:21035621:A:T	C261S	0.975
2:21035669:A:G	C245R	0.975
2:21013271:A:G	W1369R	0.974
2:21013271:A:T	W1369R	0.974

dbSNP variants (sampled 300 via entrez): RS1000065533 (2:21002116 G>T), RS1000132708 (2:21018956 G>A), RS1000166750 (2:21028949 C>A), RS1000225088 (2:21003751 T>A), RS1000235582 (2:21045717 G>A), RS1000395421 (2:21040125 C>A,T), RS1000409167 (2:21034060 G>T), RS1000461215 (2:21034366 A>G), RS1000480034 (2:21031577 C>T), RS1000596996 (2:21003452 A>C,T), RS1000770004 (2:21019327 C>A,T), RS1000978224 (2:21036249 T>C), RS1000992133 (2:21042116 G>C), RS1001044548 (2:21014127 G>A), RS1001045862 (2:21041836 A>C)

Disease associations

OMIM: gene MIM:107730 | disease phenotypes: MIM:144010, MIM:615558, MIM:143890, MIM:122700, MIM:615511, MIM:603776, MIM:108600

GenCC curated gene-disease

Disease	Classification	Inheritance
hypercholesterolemia, autosomal dominant, type B	Definitive	Autosomal dominant
familial hypobetalipoproteinemia 1	Strong	Autosomal recessive
homozygous familial hypercholesterolemia	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
hypercholesterolemia, autosomal dominant, type B	Definitive	AD
familial hypobetalipoproteinemia 1	Definitive	SD

Mondo (10): hypercholesterolemia, autosomal dominant, type B (MONDO:0007751), familial hypobetalipoproteinemia 1 (MONDO:0014252), familial hypercholesterolemia (MONDO:0005439), hypercholesterolemia, familial, 1 (MONDO:0007750), coumarin resistance (MONDO:0007390), hypobetalipoproteinemia (MONDO:0017774), homozygous familial hypercholesterolemia (MONDO:0018328), myopathy due to myoadenylate deaminase deficiency (MONDO:0014220), hypercholesterolemia, autosomal dominant, 3 (MONDO:0011369), spastic ataxia (MONDO:0017845)

Orphanet (4): Homozygous familial hypercholesterolemia (Orphanet:391665), Hypobetalipoproteinemia (Orphanet:31154), Adenosine monophosphate deaminase deficiency (Orphanet:45), Spastic ataxia (Orphanet:316226)

HPO phenotypes

52 total (30 of 52 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000510	Rod-cone dystrophy
HP:0000546	Retinal degeneration
HP:0000799	Renal steatosis
HP:0000822	Hypertension
HP:0000991	Xanthomatosis
HP:0001084	Corneal arcus
HP:0001114	Xanthelasma
HP:0001138	Optic neuropathy
HP:0001251	Ataxia
HP:0001315	Reduced tendon reflexes
HP:0001397	Hepatic steatosis
HP:0001645	Sudden cardiac death
HP:0001653	Mitral regurgitation
HP:0001658	Myocardial infarction
HP:0001677	Coronary artery atherosclerosis
HP:0001681	Angina pectoris
HP:0001920	Renal artery stenosis
HP:0001927	Acanthocytosis
HP:0002094	Dyspnea
HP:0002155	Hypertriglyceridemia
HP:0002570	Steatorrhea
HP:0002829	Arthralgia
HP:0003077	Hyperlipidemia
HP:0003124	Hypercholesterolemia
HP:0003141	Increased LDL cholesterol concentration
HP:0003146	Hypocholesterolemia
HP:0003233	Decreased HDL cholesterol concentration
HP:0003563	Decreased LDL cholesterol concentration

GWAS associations

163 associations (top):

Study	Trait	p-value
GCST000132_4	LDL cholesterol	6.000000e-22
GCST000134_7	LDL cholesterol	1.000000e-21
GCST000138_6	Triglycerides	2.000000e-07
GCST000151_3	LDL cholesterol	1.000000e-09
GCST000282_11	LDL cholesterol	4.000000e-17
GCST000283_2	LDL cholesterol	3.000000e-11
GCST000285_12	Cholesterol, total	9.000000e-23
GCST000286_7	Triglycerides	9.000000e-12
GCST000287_1	LDL cholesterol	5.000000e-29
GCST000288_6	HDL cholesterol	4.000000e-08
GCST000289_1	Triglycerides	3.000000e-08
GCST000292_1	Metabolic traits	2.000000e-08
GCST000533_1	Lipid metabolism phenotypes	9.000000e-56
GCST000533_61	Lipid metabolism phenotypes	3.000000e-31
GCST000533_62	Lipid metabolism phenotypes	1.000000e-25
GCST000533_63	Lipid metabolism phenotypes	2.000000e-17
GCST000533_64	Lipid metabolism phenotypes	6.000000e-25
GCST000533_65	Lipid metabolism phenotypes	1.000000e-17
GCST000533_66	Lipid metabolism phenotypes	2.000000e-22
GCST000533_67	Lipid metabolism phenotypes	2.000000e-09
GCST000533_68	Lipid metabolism phenotypes	4.000000e-10
GCST000533_69	Lipid metabolism phenotypes	4.000000e-47
GCST000533_70	Lipid metabolism phenotypes	4.000000e-64
GCST000533_71	Lipid metabolism phenotypes	5.000000e-42
GCST000635_13	Response to statin therapy	8.000000e-06
GCST000737_2	Hypertriglyceridemia	2.000000e-07
GCST000755_32	HDL cholesterol	1.000000e-30
GCST000758_23	Triglycerides	1.000000e-45
GCST000759_26	LDL cholesterol	4.000000e-114
GCST000760_46	Cholesterol, total	4.000000e-96

EFO canonical traits (21, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0004574	total cholesterol measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004529	lipid measurement
EFO:0000195	metabolic syndrome
EFO:0004723	coronary artery calcification
EFO:0004746	lipoprotein-associated phospholipase A(2) measurement
EFO:0005763	pulse pressure measurement
EFO:0009932	HMG CoA reductase inhibitor use measurement
EFO:0004329	alcohol drinking
EFO:0005105	lipid or lipoprotein measurement
EFO:0007804	LDL cholesterol change measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004615	apolipoprotein B measurement
EFO:0005689	non-high density lipoprotein cholesterol measurement
EFO:0006925	lipoprotein A measurement
EFO:0007985	platelet crit
EFO:0004309	platelet count
EFO:0009188	Red cell distribution width
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D000090542	Homozygous Familial Hypercholesterolemia	C16.320.565.398.481.500; C18.452.584.500.500.644.475.500; C18.452.584.563.481.500; C18.452.648.398.481.500
D006995	Hypobetalipoproteinemias	C16.320.565.398.500.440; C18.452.584.500.875.440; C18.452.584.563.500.440; C18.452.648.398.500.440
C563039	Coumarin Resistance (supp.)
C566337	Hypercholesterolemia, Autosomal Dominant, 3 (supp.)
C566267	Hypobetalipoproteinemia, Familial, 1 (supp.)
C564815	Spastic Ataxia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4549 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

5 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1367117	Efficacy	3	irbesartan	Hypertension
rs1367117	Toxicity	3	warfarin	Heart valve replacement;Hemorrhage
rs1801701	Efficacy	3	irbesartan	Hypertrophy;Left Ventricular
rs676210	Efficacy	3	fenofibrate	Hypertriglyceridemia
rs679899	Toxicity	3	warfarin	Heart valve replacement;Hemorrhage

PharmGKB variants

8 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs676210	APOB	3	2.50	1	fenofibrate
rs1367117	APOB	3	4.00	2	irbesartan;warfarin
rs1801701	APOB	3	1.50	1	irbesartan
rs1042034	APOB		0.00	0
rs679899	APOB	3	3.00	1	warfarin
rs13306194	APOB		0.00	0
rs693	APOB		0.00	0
rs13306198	APOB		0.00	0

ChEMBL bioactivities

49 potent at pChembl≥5 of 49 total, top 49 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.15	IC50	0.7	nM	CHEMBL142450
9.05	IC50	0.9	nM	CHEMBL336873
9.00	IC50	1	nM	CHEMBL139834
8.96	IC50	1.1	nM	CHEMBL143284
8.92	IC50	1.2	nM	CHEMBL344814
8.89	IC50	1.3	nM	CHEMBL357886
8.85	IC50	1.4	nM	CHEMBL356091
8.80	IC50	1.6	nM	CHEMBL142272
8.80	IC50	1.6	nM	CHEMBL142975
8.77	IC50	1.7	nM	CHEMBL142972
8.74	IC50	1.8	nM	CHEMBL359428
8.74	IC50	1.8	nM	CHEMBL422295
8.74	IC50	1.8	nM	CHEMBL142928
8.72	IC50	1.9	nM	CHEMBL139992
8.72	IC50	1.9	nM	CHEMBL143626
8.70	IC50	2	nM	CHEMBL356126
8.70	IC50	2	nM	CHEMBL343406
8.66	IC50	2.2	nM	CHEMBL143514
8.66	IC50	2.2	nM	CHEMBL142733
8.64	IC50	2.3	nM	CHEMBL343874
8.62	IC50	2.4	nM	CHEMBL140754
8.62	IC50	2.4	nM	CHEMBL341974
8.60	IC50	2.5	nM	CHEMBL358141
8.60	IC50	2.5	nM	CHEMBL344439
8.59	IC50	2.6	nM	CHEMBL344849
8.52	IC50	3	nM	CHEMBL423194
8.47	IC50	3.4	nM	CHEMBL343837
8.39	IC50	4.1	nM	CHEMBL142332
8.30	IC50	5	nM	CHEMBL141014
8.28	IC50	5.2	nM	CHEMBL142731
8.26	IC50	5.5	nM	CHEMBL141036
8.19	IC50	6.4	nM	CHEMBL423915
8.19	IC50	6.5	nM	CHEMBL359248
8.18	IC50	6.6	nM	CHEMBL412375
8.12	IC50	7.5	nM	CHEMBL356937
8.08	IC50	8.3	nM	CHEMBL143821
8.06	IC50	8.8	nM	CHEMBL142763
8.06	IC50	8.7	nM	CHEMBL358538
8.00	IC50	10	nM	CHEMBL344801
7.92	IC50	12	nM	CHEMBL143535
7.82	IC50	15	nM	CHEMBL141881
7.80	IC50	16	nM	CHEMBL142616
7.38	IC50	42	nM	CHEMBL434703
7.37	IC50	43	nM	CHEMBL358768
7.22	IC50	60	nM	CHEMBL140786
6.92	IC50	120	nM	CHEMBL143610
6.92	IC50	120	nM	CHEMBL143647
6.57	IC50	270	nM	CHEMBL143684
6.47	IC50	340	nM	CHEMBL142519

PubChem BioAssay actives

49 with measured affinity, of 50 total; 49 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
methyl N-[(2S)-5-[[3-methyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0007	uM
3-methyl-N-[(2R)-2-(thiophen-2-ylsulfonylamino)-2,3-dihydro-1H-inden-5-yl]-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0009	uM
3,5-dimethyl-N-[(2R)-2-(thiophen-2-ylsulfonylamino)-2,3-dihydro-1H-inden-5-yl]-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0010	uM
methyl N-[(2S)-5-[[3,5-dimethyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0011	uM
N-[2-(benzenesulfonamido)-2,3-dihydro-1H-inden-5-yl]-2-(4-fluorophenyl)-3-methylbenzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0012	uM
N-[2-(benzenesulfonamido)-2,3-dihydro-1H-inden-5-yl]-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0013	uM
2-(4-fluorophenyl)-3-methyl-N-[2-(thiophen-2-ylsulfonylamino)-2,3-dihydro-1H-inden-5-yl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0014	uM
methyl N-[3-[[3-methyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-6,7,8,9-tetrahydro-5H-benzo[7]annulen-7-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0016	uM
3-methyl-N-[7-(thiophen-2-ylsulfonylamino)-6,7,8,9-tetrahydro-5H-benzo[7]annulen-3-yl]-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0016	uM
3-methyl-N-[(2S)-2-(pyridin-2-ylmethylamino)-2,3-dihydro-1H-inden-5-yl]-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0017	uM
N-[(2R)-2-(methanesulfonamido)-2,3-dihydro-1H-inden-5-yl]-3-methyl-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0018	uM
methyl 4-[(2S)-5-[[3-methyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]piperazine-1-carboxylate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0018	uM
methyl N-[(2S)-5-[[3-(trifluoromethyl)-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0018	uM
methyl N-[(2S)-5-[[2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0019	uM
3-methyl-N-[2-[(thiophen-2-ylsulfonylamino)methyl]-2,3-dihydro-1H-inden-5-yl]-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0019	uM
N-[2-(benzenesulfonamido)-2,3-dihydro-1H-inden-5-yl]-2-(4-chlorophenyl)-3-methoxybenzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0020	uM
methyl N-[3-[[2-(4-chlorophenyl)-3-methylbenzoyl]amino]-6,7,8,9-tetrahydro-5H-benzo[7]annulen-7-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0020	uM
methyl N-[[5-[[3,5-dimethyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]methyl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0022	uM
methyl N-[(2S)-5-[[5-methyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0022	uM
N-[7-(methanesulfonamido)-6,7,8,9-tetrahydro-5H-benzo[7]annulen-3-yl]-3-methyl-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0023	uM
methyl N-[3-[[3,5-dimethyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-6,7,8,9-tetrahydro-5H-benzo[7]annulen-7-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0024	uM
N-[2-(benzenesulfonamido)-2,3-dihydro-1H-inden-5-yl]-2-(4-chlorophenyl)-3-methylbenzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0024	uM
methyl N-[(2R)-5-[[3,5-dimethyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0025	uM
N-[2-(benzenesulfonamido)-2,3-dihydro-1H-inden-5-yl]-3-methyl-2-(4-methylphenyl)benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0025	uM
3,5-dimethyl-N-[(2S)-2-(thiophen-2-ylsulfonylamino)-2,3-dihydro-1H-inden-5-yl]-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0026	uM
2-(4-chlorophenyl)-3-methyl-N-[2-(thiophen-2-ylsulfonylamino)-2,3-dihydro-1H-inden-5-yl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0030	uM
methyl N-[5-[[2-(4-chlorophenyl)-3,5-dimethylbenzoyl]amino]-2,3-dihydro-1H-inden-2-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0034	uM
methyl N-[[5-[[3-methyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]methyl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0041	uM
2-(4-chlorophenyl)-N-[7-(methanesulfonamido)-6,7,8,9-tetrahydro-5H-benzo[7]annulen-3-yl]-3-methylbenzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0050	uM
methyl N-[(2R)-5-[[2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0052	uM
N-[2-(benzenesulfonamido)-2,3-dihydro-1H-inden-5-yl]-2-(4-cyanophenyl)-3-methylbenzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0055	uM
methyl N-[(2R)-5-[[3-methyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0064	uM
N-[2-(methanesulfonamidomethyl)-2,3-dihydro-1H-inden-5-yl]-3-methyl-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0065	uM
2-(4-chlorophenyl)-N-[2-(methanesulfonamido)-2,3-dihydro-1H-inden-5-yl]-3-methylbenzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0066	uM
methyl N-[(2S)-5-[[5-(trifluoromethyl)-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0075	uM
2-(4-fluorophenyl)-N-[2-(methanesulfonamido)-2,3-dihydro-1H-inden-5-yl]-3-methylbenzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0083	uM
methyl N-[[5-[[2-(4-chlorophenyl)-3-methylbenzoyl]amino]-2,3-dihydro-1H-inden-2-yl]methyl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0087	uM
N-[(2S)-2-(methanesulfonamido)-2,3-dihydro-1H-inden-5-yl]-3-methyl-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0088	uM
methyl N-[2-[5-[[3-methyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]ethyl]carbamate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0100	uM
N-[2-(benzenesulfonamido)-2,3-dihydro-1H-inden-5-yl]-2-phenylbenzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0120	uM
2-(4-chlorophenyl)-N-[2-(methanesulfonamido)-2,3-dihydro-1H-inden-5-yl]-3-methoxybenzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0150	uM
2-(4-chlorophenyl)-N-[2-(methanesulfonamidomethyl)-2,3-dihydro-1H-inden-5-yl]-3-methylbenzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0160	uM
N-[(2S)-2-(benzenesulfonamido)-2,3-dihydro-1H-inden-5-yl]-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0420	uM
methyl 4-[(2R)-5-[[3-methyl-2-[4-(trifluoromethyl)phenyl]benzoyl]amino]-2,3-dihydro-1H-inden-2-yl]piperazine-1-carboxylate	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0430	uM
N-[2-(methanesulfonamido)-2,3-dihydro-1H-inden-5-yl]-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.0600	uM
N-(2-acetamido-2,3-dihydro-1H-inden-5-yl)-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.1200	uM
N-[2-(dimethylcarbamoylamino)-2,3-dihydro-1H-inden-5-yl]-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.1200	uM
N-(2-benzamido-2,3-dihydro-1H-inden-5-yl)-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.2700	uM
N-[2-(benzylamino)-2,3-dihydro-1H-inden-5-yl]-2-[4-(trifluoromethyl)phenyl]benzamide	220646: Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	ic50	0.3400	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Simvastatin	decreases secretion, affects response to substance, affects expression, increases reaction, affects cotreatment (+1 more)	10
Bezafibrate	decreases secretion, decreases reaction, increases expression, decreases expression	8
Atorvastatin	decreases expression, decreases secretion	7
Benzo(a)pyrene	decreases expression, increases methylation	6
Oleic Acid	affects cotreatment, decreases expression, decreases reaction, increases expression, decreases secretion (+1 more)	6
Quercetin	decreases reaction, increases oxidation, increases reaction, affects cotreatment, decreases expression (+2 more)	5
Valproic Acid	decreases expression, decreases methylation, increases expression	5
Niacin	affects cotreatment, decreases expression	4
bisphenol A	decreases expression, increases expression, affects expression	3
Acetaminophen	decreases expression	3
Copper	increases reduction, affects binding, decreases reaction, increases oxidation, increases reaction	3
Aflatoxin B1	affects cotreatment, decreases expression, decreases methylation, affects expression	3
taxifolin	decreases expression, decreases secretion	2
perfluorooctanoic acid	decreases expression	2
acetylleucyl-leucyl-norleucinal	decreases reaction, decreases secretion, decreases expression, increases expression, increases secretion	2
lactacystin	increases degradation, decreases expression, decreases reaction, decreases secretion, increases expression (+2 more)	2
Rosuvastatin Calcium	decreases expression	2
Fluvastatin	affects cotreatment, affects response to substance, decreases expression, increases reaction	2
Irbesartan	affects response to substance	2
Amiodarone	decreases expression	2
Ascorbic Acid	affects cotreatment, decreases expression, decreases reaction, increases oxidation, increases reaction	2
Atenolol	increases expression	2
Cadmium	affects binding, decreases expression, increases abundance	2
Caffeine	decreases expression, increases phosphorylation, affects cotreatment	2
Folic Acid	affects cotreatment, decreases expression, increases expression	2
Glucosamine	decreases expression, decreases reaction, decreases secretion, decreases localization, increases ubiquitination	2
Lovastatin	decreases secretion, affects cotreatment, decreases expression	2
Vitamin E	decreases reaction, increases oxidation, increases reaction, affects cotreatment, decreases expression	2
Zinc	affects binding, decreases expression, decreases reaction	2
Cyclosporine	decreases expression	2

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL824105	Binding	Inhibition of apolipoprotein B (apoB) secreted by human hepatoma cells (Hep G2) at 100 nM	Diaminoindanes as microsomal triglyceride transfer protein inhibitors. — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A1WB	GZHMCi002-A	Induced pluripotent stem cell	Female
CVCL_A7JG	CIBi009-A	Induced pluripotent stem cell	Male
CVCL_D3AI	GM29104	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00655265	PHASE4	COMPLETED	A Study of the Safety and Efficacy of Patients With Familial Hypercholesterolaemia Taking Colesevelam as add-on Therapy to Their Existing Medication
NCT00916643	PHASE4	COMPLETED	Low-Density Lipoprotein (LDL) Apheresis Using H.E.L.P. Therapy
NCT03331666	PHASE4	TERMINATED	Impact of LDL-cholesterol Lowering on Platelet Activation
NCT05465278	PHASE4	COMPLETED	Alirocumab and Plaque Burden In Familial Hypercholesterolaemia
NCT01457690	PHASE3	COMPLETED	Study of the Absorption of Vitamin E Water-soluble Form (Pegylated) in the Familial Hypocholesterolemia With Chylomicron Retention
NCT00730236	PHASE3	COMPLETED	A Safety and Efficacy Study of AEGR-733 to Treat Homozygous Familial Hypercholesterolemia (FH)
NCT01841684	PHASE3	TERMINATED	Efficacy and Tolerability of Anacetrapib Added to Ongoing Lipid-Lowering Therapy in Adult Participants With Homozygous Familial Hypercholesterolemia (HoFH) (MK-0859-042)
NCT02226198	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia
NCT02434497	PHASE3	COMPLETED	A Study to Evaluate the Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia
NCT02765841	PHASE3	WITHDRAWN	Evaluate the Efficacy and Safety of Lomitapide in Pediatric Patients With Homozygous Familial Hypercholesterolemia on Stable Lipid-lowering Therapy
NCT03156621	PHASE3	COMPLETED	Study in Participants With Homozygous Familial Hypercholesterolemia (HoFH)
NCT03399786	PHASE3	COMPLETED	Efficacy and Safety of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia
NCT03409744	PHASE3	COMPLETED	Evaluate the Long-Term Safety and Efficacy of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia
NCT03814187	PHASE3	COMPLETED	Trial to Assess the Effect of Long Term Dosing of Inclisiran in Subjects With High CV Risk and Elevated LDL-C
NCT03851705	PHASE3	COMPLETED	A Study of Inclisiran in Participants With Homozygous Familial Hypercholesterolemia (HoFH)
NCT04034485	PHASE3	COMPLETED	Phase 3 Study to Evaluate the Efficacy and Safety of LIB003 With Evolocumab in HoFH
NCT04233918	PHASE3	COMPLETED	Evaluate the Efficacy and Safety of Evinacumab in Pediatric Patients With Homozygous Familial Hypercholesterolemia
NCT05611528	PHASE3	COMPLETED	Safety and Effectiveness of Evinacumab for the Treatment of Homozygous Familial Hypercholesterolemia
NCT05682378	PHASE3	RECRUITING	Long-term Safety and Tolerability of Inclisiran in Participants With HeFH or HoFH Who Have Completed the Pediatric ORION-16, ORION-13, ORION-20, or ORION-19 Studies
NCT06712771	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Clinical Trial to Evaluate the Efficacy and Safety of VSA003 in Chinese HoFH Patients
NCT06723652	PHASE3	COMPLETED	A Multicenter, Randomized, Double-blind, Placebo-controlled Phase III Clinical Study Evaluating the Efficacy and Safety of SHR-1918 in Patients With Homozygous Familial Hypercholesterolemia
NCT07037771	PHASE3	RECRUITING	A Phase 3 Study of Zodasiran in Adolescent and Adult Subjects With Homozygous Familial Hypercholesterolemia (YOSEMITE)
NCT07473843	PHASE3	NOT_YET_RECRUITING	Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia
NCT00355615	PHASE3	COMPLETED	PLUTO: Pediatric Lipid-redUction Trial of rOsuvastatin
NCT00552097	PHASE3	COMPLETED	Effect of Ezetimibe Plus Simvastatin Versus Simvastatin Alone on Atherosclerosis in the Carotid Artery (ENHANCE)(P02578)
NCT00607373	PHASE3	COMPLETED	Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia
NCT00694109	PHASE3	COMPLETED	An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia
NCT00827606	PHASE3	COMPLETED	Atorvastatin Three Year Pediatric Study
NCT00943306	PHASE3	COMPLETED	Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia
NCT01524289	PHASE3	COMPLETED	Study to Assess the Tolerability and Efficacy of Anacetrapib (MK-0859) Co-Administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020)
NCT01813006	PHASE3	COMPLETED	Effect of Omega-3 Fatty Acid on Endothelial Function
NCT02624869	PHASE3	COMPLETED	Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Children With Inherited Elevated Low-density Lipoprotein Cholesterol (Familial Hypercholesterolemia)
NCT02748057	PHASE3	COMPLETED	A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653H in Japanese Participants With Hypercholesterolemia (MK-0653H-833)
NCT03884452	PHASE3	COMPLETED	Ezetimibe (SCH 58235) Taken With Either Atorvastatin or Simvastatin in Participants With Familial Hypercholesterolemia (MK-0653-018)
NCT04798430	PHASE3	ENROLLING_BY_INVITATION	Long-term Efficacy and Safety of OLE LIB003 in HoFH, HeFH, and High-risk CVD Patients Requiring Further LDL-C Reduction
NCT05142722	PHASE3	COMPLETED	Randomized Study to Evaluate the Effect of Obicetrapib on Top of Maximum Tolerated Lipid-Modifying Therapies
NCT05238519	PHASE3	ACTIVE_NOT_RECRUITING	Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)
NCT05425745	PHASE3	COMPLETED	Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.
NCT05952856	PHASE3	COMPLETED	A Study of Enlicitide Decanoate (MK-0616 Oral PCSK9 Inhibitor) in Adults With Hypercholesterolemia (MK-0616-013) CORALreef Lipids
NCT05952869	PHASE3	COMPLETED	A Study of Enlicitide Decanoate (MK-0616 Oral PCSK9 Inhibitor) in Adults With Heterozygous Familial Hypercholesterolemia (MK-0616-017/CORALreef HeFH)