DGAT2

Summary

DGAT2 (diacylglycerol O-acyltransferase 2, HGNC:16940) is a protein-coding gene on chromosome 11q13.5, encoding Diacylglycerol O-acyltransferase 2 (Q96PD7). Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates.

This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 84649 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Charcot-Marie-Tooth disease (Moderate, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 91 total
• Druggable target: yes — 3 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_032564

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16940
Approved symbol	DGAT2
Name	diacylglycerol O-acyltransferase 2
Location	11q13.5
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000062282
Ensembl biotype	protein_coding
OMIM	606983
Entrez	84649

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000228027, ENST00000376262, ENST00000603276, ENST00000603363, ENST00000603865, ENST00000604733, ENST00000604935, ENST00000605099, ENST00000605608, ENST00000877418, ENST00000877419, ENST00000877420, ENST00000877421, ENST00000960982

RefSeq mRNA: 2 — MANE Select: NM_032564 NM_001253891, NM_032564

CCDS: CCDS31642, CCDS58162

Canonical transcript exons

ENST00000228027 — 8 exons

Exon	Start	End
ENSE00000989754	75796328	75796532
ENSE00001102537	75790661	75790731
ENSE00001183542	75768778	75769112
ENSE00001554275	75800354	75801534
ENSE00003497699	75797158	75797332
ENSE00003519308	75784618	75784746
ENSE00003519626	75790188	75790295
ENSE00003681234	75798227	75798429

Expression profiles

Bgee: expression breadth ubiquitous, 215 present calls, max score 99.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.3223 / max 1740.1088, expressed in 1334 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115927	13.7914	593
115926	3.9587	1102
115925	0.9464	528
115928	0.5790	178
206390	0.0468	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	99.49	gold quality
upper leg skin	UBERON:0004262	98.23	gold quality
right lobe of liver	UBERON:0001114	97.44	gold quality
skin of leg	UBERON:0001511	97.33	gold quality
skin of abdomen	UBERON:0001416	97.20	gold quality
zone of skin	UBERON:0000014	96.99	gold quality
liver	UBERON:0002107	96.57	gold quality
blood	UBERON:0000178	95.77	gold quality
adipose tissue	UBERON:0001013	95.56	gold quality
jejunal mucosa	UBERON:0000399	95.01	gold quality
mammalian vulva	UBERON:0000997	95.00	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.78	gold quality
adipose tissue of abdominal region	UBERON:0007808	94.23	gold quality
omental fat pad	UBERON:0010414	93.98	gold quality
peritoneum	UBERON:0002358	93.91	gold quality
skin of hip	UBERON:0001554	93.88	gold quality
right testis	UBERON:0004534	92.57	gold quality
nipple	UBERON:0002030	92.41	gold quality
lower esophagus mucosa	UBERON:0035834	92.33	gold quality
sperm	CL:0000019	92.05	gold quality
left testis	UBERON:0004533	91.90	gold quality
testis	UBERON:0000473	90.01	gold quality
thoracic mammary gland	UBERON:0005200	88.80	gold quality
mammary gland	UBERON:0001911	88.74	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.18	gold quality
left ventricle myocardium	UBERON:0006566	87.52	gold quality
vena cava	UBERON:0004087	86.84	gold quality
synovial joint	UBERON:0002217	86.66	gold quality
layer of synovial tissue	UBERON:0007616	86.28	gold quality
penis	UBERON:0000989	85.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.45

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPA, CEBPB, SREBF1

miRNA regulators (miRDB)

49 targeting DGAT2, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-6743-5P	99.48	63.60	721
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-6501-3P	98.71	67.45	1480
HSA-MIR-5197-3P	98.71	67.05	1905
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-9500	98.62	66.54	1845
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-3188	98.58	65.60	878

Literature-anchored findings (GeneRIF, showing 28)

• DGAT2 expression is decreased in psoriatic skin. (PMID:14521909)
• Niacin selectively inhibited DGAT2 but not DGAT1 activity, but had no effect on the expression of DGAT1 and DGAT2 mRNA (PMID:15258194)
• our results do not support the hypothesis of an important role of common genetic variation in DGAT2 for the development of obesity (PMID:17477860)
• diacylglycerol acyltransferase 2 expression is regulated by CAAT/enhancer-binding protein beta (C/EBPbeta) and C/EBPalpha during adipogenesis (PMID:17504763)
• Overexpression of human DGAT2 in glycolytic muscle of mice promotes insulin resistance in this tissue and may contribute to the development of diabetes. (PMID:17940217)
• Review summarizes current knowledge of DGAT1 and DGAT2 enzymes, focusing on new advances since the cloning of their genes, including possible roles in human health and diseases. (PMID:18757836)
• DGAT2, an ER-resident transmembrane domain-containing enzyme, is also found in mitochondria-associated membranes, where its N terminus may promote its association with mitochondria. (PMID:19049983)
• Niacin treatment may reduce liver fat content in Chinese patients with dyslipidemia and the mechanism may involve inhibition of DGAT2. (PMID:22315393)
• describe distinct but synergistic roles of the two DGATs in an integrated pathway of TAG synthesis and secretion, with DGAT2 acting upstream of DGAT1 (PMID:22748069)
• Hepatic triacylglycerol synthesis and secretion: DGAT2 as the link between glycaemia and triglyceridaemia. (PMID:23489367)
• DGAT2 is regulated by gp78-associated endoplasmic-reticulum-associated degradation at the post-translational level. (PMID:24820123)
• uPA/uPAR stimulates triglyceride synthesis in Huh7 hepatoma cells via p38-dependent upregulation of DGAT2 (PMID:25244504)
• Results identified a novel de novo p.Y223H mutation in the DGAT2 from an autosomal-dominant Korean Charcot-Marie-Tooth (CMT) family suggesting this mutation a novel underlying cause of an autosomal-dominant CMT2 phenotype. (PMID:26786738)
• The findings indicate the functionality of the prostate cancer death-predisposing SNPs rs143975731, rs12277366, rs2155225, and rs2155222 as DGAT2 regulators in prostate tumors. (PMID:27113481)
• Diacylglycerol acyltransferase-2 and monoacylglycerol acyltransferase-2 are ubiquitinated proteins that are degraded by the 26S proteasome (PMID:27531967)
• We first report loss-of-function mutations in DGAT2 and FAAH in one obese subject, which may interact with each other to affect the adiposity penetrance, providing a model of genetic interaction associated with human obesity. (PMID:28243972)
• Study identified a large cohort of patients with congenital diarrheal disorders with mutations in DGAT1 that reduced expression of its product; dermal fibroblasts and intestinal organoids derived from these patients had altered lipid metabolism and were susceptible to lipid-induced cell death. Expression of full-length wildtype DGAT1 or DGAT2 restored normal lipid metabolism in these cells. (PMID:29604290)
• DGAT2 contains a C-terminal signal sequence that interacts with lipid droplets. (PMID:29902571)
• A binding assay utilizing (125)I-labeled imidazopyridine demonstrated that the level of imidazopyridine binding to DGAT2 mutant enzymes, H161A and H163A, dramatically decreased to 11-17% of that of the wild-type enzyme, indicating that these residues are critical for imidazopyridines to bind to DGAT2. (PMID:30422629)
• These data suggest that Dgat2 is an important regulator of HCC cell proliferation. (PMID:31078041)
• Obesity promotes gastric cancer metastasis via diacylglycerol acyltransferase 2-dependent lipid droplets accumulation and redox homeostasis. (PMID:32506038)
• DGAT2 stability is increased in response to DGAT1 inhibition in gene edited HepG2 cells. (PMID:34116261)
• ACC inhibitor alone or co-administered with a DGAT2 inhibitor in patients with non-alcoholic fatty liver disease: two parallel, placebo-controlled, randomized phase 2a trials. (PMID:34635855)
• DGAT2 Inhibition Potentiates Lipid Droplet Formation To Reduce Cytotoxicity in APOL1 Kidney Risk Variants. (PMID:35232775)
• Preferential lipolysis of DGAT1 over DGAT2 generated triacylglycerol in Huh7 hepatocytes. (PMID:37516308)
• The roles of DGAT1 and DGAT2 in human myotubes are dependent on donor patho-physiological background. (PMID:37779421)
• The role of DGAT1 and DGAT2 in regulating tumor cell growth and their potential clinical implications. (PMID:38500157)
• Diurnal expression of Dgat2 induced by time-restricted feeding maintains cardiac health in the Drosophila model of circadian disruption. (PMID:38616316)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	dgat2	ENSDARG00000018846
mus_musculus	Dgat2	ENSMUSG00000030747
rattus_norvegicus	Dgat2	ENSRNOG00000016573
drosophila_melanogaster	CG1941	FBGN0033214
drosophila_melanogaster	Dgat2	FBGN0033215
drosophila_melanogaster	CG1946	FBGN0033216
caenorhabditis_elegans		WBGENE00010296
caenorhabditis_elegans		WBGENE00019464
caenorhabditis_elegans		WBGENE00020910
caenorhabditis_elegans		WBGENE00021818

Paralogs (6): MOGAT3 (ENSG00000106384), MOGAT1 (ENSG00000124003), AWAT2 (ENSG00000147160), MOGAT2 (ENSG00000166391), DGAT2L6 (ENSG00000184210), AWAT1 (ENSG00000204195)

Protein

Protein identifiers

Diacylglycerol O-acyltransferase 2 — Q96PD7 (reviewed: Q96PD7)

Alternative names: Acyl-CoA retinol O-fatty-acyltransferase, Diglyceride acyltransferase 2

All UniProt accessions (5): Q96PD7, S4R383, S4R3S3, S4R3Z3, S4R449

UniProt curated annotations — full annotation on UniProt →

Function. Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides. Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides. Also functions as an acyl-CoA retinol acyltransferase (ARAT). Also able to use 1-monoalkylglycerol (1-MAkG) as an acyl acceptor for the synthesis of monoalkyl-monoacylglycerol (MAMAG).

Subunit / interactions. Forms multimeric complexes consisting of several DGAT2 subunits. Interacts with SLC27A1 and this interaction is enhanced in the presence of ZFYVE1.

Subcellular location. Endoplasmic reticulum membrane. Lipid droplet. Cytoplasm. Perinuclear region.

Tissue specificity. Predominantly expressed in liver and white adipose tissue. Expressed at lower level in mammary gland, testis and peripheral blood leukocytes. Expressed in sebaceous glands of normal skin but decreased psoriatic skin.

Activity regulation. Inhibited by niacin.

Pathway. Glycerolipid metabolism; triacylglycerol biosynthesis.

Similarity. Belongs to the diacylglycerol acyltransferase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96PD7-1	1	yes
Q96PD7-2	2

RefSeq proteins (2): NP_001240820, NP_115953* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007130	DAGAT	Family

Pfam: PF03982

Enzyme classification (BRENDA):

• EC 2.3.1.20 — diacylglycerol O-acyltransferase (BRENDA: 78 organisms, 288 substrates, 261 inhibitors, 50 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

12 substrates with measured Km, best-characterized 12. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
OLEOYL-COA	0.0005–0.667	20
PALMITOYL-COA	0.0007–0.39	6
DIOLEIN	0.028–0.714	2
SN-1,2-DIOLEIN	0.006–0.113	2
1,2-DIOLEIN	0.014	1
1,2-DIOLEOYL-SN-GLYCEROL	0.5971	1
11-CIS-RETINOL	0.0085	1
13-CIS-RETINOL	0.0188	1
ALL-TRANS-RETINOL	0.0099	1
OCTODECYL-COA	0.0105	1
PALMITOLEOYL-COA	0.0062	1
STEAROYL-COA	0.0086	1

Catalyzed reactions (Rhea), 11 shown:

• an acyl-CoA + a 1,2-diacyl-sn-glycerol = a triacyl-sn-glycerol + CoA (RHEA:10868)
• all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA (RHEA:11488)
• 2-(9Z-octadecenoyl)-glycerol + (9Z)-octadecenoyl-CoA = 1,2-di-(9Z-octadecenoyl)-sn-glycerol + CoA (RHEA:37911)
• 1-(9Z-octadecenoyl)-glycerol + (9Z)-octadecenoyl-CoA = 1,2-di-(9Z-octadecenoyl)-glycerol + CoA (RHEA:37915)
• 2-(9Z-octadecenoyl)-glycerol + hexadecanoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol + CoA (RHEA:38071)
• 1,2-di-(9Z-octadecenoyl)-sn-glycerol + hexadecanoyl-CoA = 1,2-di-(9Z)-octadecenoyl-3-hexadecanoyl-sn-glycerol + CoA (RHEA:38163)
• all-trans-retinol + hexadecanoyl-CoA = all-trans-retinyl hexadecanoate + CoA (RHEA:38175)
• 1,2-di-(9Z-octadecenoyl)-sn-glycerol + (9Z)-octadecenoyl-CoA = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA (RHEA:38219)
• 1,3-di-(9Z-octadecenoyl)-glycerol + (9Z)-octadecenoyl-CoA = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA (RHEA:38435)
• 2,3-di-(9Z)-octadecenoyl-sn-glycerol + (9Z)-octadecenoyl-CoA = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA (RHEA:38439)
• 1-O-(9Z-octadecenyl)-glycerol + (9Z)-octadecenoyl-CoA = 1-O-(9Z-octadecyl)-3-(9Z-octadecenoyl)-glycerol + CoA (RHEA:55340)

UniProt features (13 total): topological domain 3, sequence variant 3, sequence conflict 2, transmembrane region 2, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PD7-F1	88.52	0.76

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1482883	Acyl chain remodeling of DAG and TAG
R-HSA-75109	Triglyceride biosynthesis
R-HSA-9841922	MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis

MSigDB gene sets: 292 (showing top): GOBP_LIPID_MODIFICATION, GOBP_ACYLGLYCEROL_HOMEOSTASIS, GOBP_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS, GOBP_STEROL_HOMEOSTASIS, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, PEREZ_TP63_TARGETS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_POLYOL_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS

GO Biological Process (22): glycerol metabolic process (GO:0006071), monoacylglycerol biosynthetic process (GO:0006640), diacylglycerol biosynthetic process (GO:0006651), response to nutrient (GO:0007584), positive regulation of triglyceride biosynthetic process (GO:0010867), triglyceride biosynthetic process (GO:0019432), lipid storage (GO:0019915), low-density lipoprotein particle clearance (GO:0034383), long-chain fatty-acyl-CoA metabolic process (GO:0035336), intracellular triglyceride homeostasis (GO:0035356), cholesterol homeostasis (GO:0042632), positive regulation of gluconeogenesis (GO:0045722), negative regulation of fatty acid oxidation (GO:0046322), diacylglycerol metabolic process (GO:0046339), regulation of lipoprotein metabolic process (GO:0050746), fatty acid homeostasis (GO:0055089), fat pad development (GO:0060613), cellular response to oleic acid (GO:0071400), regulation of cholesterol metabolic process (GO:0090181), regulation of plasma lipoprotein particle levels (GO:0097006), lipid metabolic process (GO:0006629), retinol metabolic process (GO:0042572)

GO Molecular Function (8): 2-acylglycerol O-acyltransferase activity (GO:0003846), diacylglycerol O-acyltransferase activity (GO:0004144), protein homodimerization activity (GO:0042803), retinol O-fatty-acyltransferase activity (GO:0050252), protein binding (GO:0005515), obsolete O-acyltransferase activity (GO:0008374), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (9): mitochondrion (GO:0005739), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), lipid droplet (GO:0005811), cytosol (GO:0005829), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), perinuclear endoplasmic reticulum membrane (GO:1990578), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1
Triglyceride metabolism	1
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	4
cellular anatomical structure	4
acylglycerol biosynthetic process	3
acylglycerol O-acyltransferase activity	2
intracellular membrane-bounded organelle	2
organelle membrane	2
carbohydrate metabolic process	1
polyol metabolic process	1
monoacylglycerol metabolic process	1
diacylglycerol metabolic process	1
response to nutrient levels	1
response to chemical	1
regulation of triglyceride biosynthetic process	1
triglyceride biosynthetic process	1
positive regulation of lipid biosynthetic process	1
positive regulation of triglyceride metabolic process	1
triglyceride metabolic process	1
nutrient storage	1
plasma lipoprotein particle clearance	1
low-density lipoprotein particle disassembly	1
fatty-acyl-CoA metabolic process	1
intracellular chemical homeostasis	1
triglyceride homeostasis	1
sterol homeostasis	1
gluconeogenesis	1
regulation of gluconeogenesis	1
positive regulation of biosynthetic process	1
positive regulation of glucose metabolic process	1
fatty acid oxidation	1
negative regulation of fatty acid metabolic process	1
regulation of fatty acid oxidation	1
acylglycerol metabolic process	1
lipoprotein metabolic process	1
regulation of protein metabolic process	1
lipid homeostasis	1
adipose tissue development	1
response to oleic acid	1
cellular response to fatty acid	1
cholesterol metabolic process	1
regulation of steroid metabolic process	1

Protein interactions and networks

STRING

1600 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DGAT2	DGAT1	O75907	989
DGAT2	SLC27A1	Q6PCB7	979
DGAT2	AASDH	Q4L235	869
DGAT2	ELOVL2	Q9NXB9	842
DGAT2	SCD	O00767	839
DGAT2	FASN	P49327	829
DGAT2	ACSL5	Q9ULC5	815
DGAT2	FABP4	P15090	782
DGAT2	SREBF1	P36956	777
DGAT2	PNPLA2	Q96AD5	748
DGAT2	GPAT4	Q86UL3	745
DGAT2	ACACA	Q13085	731
DGAT2	GPAT3	Q53EU6	728
DGAT2	GPAM	Q9HCL2	716
DGAT2	SOAT2	O75908	705

IntAct

4 interactions, top by confidence:

A	B	Type	Score
DGAT2	HARS2	psi-mi:“MI:0915”(physical association)	0.400
DGAT2	VCP	psi-mi:“MI:0915”(physical association)	0.400
DGAT2	AMFR	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (9): SLC27A1 (Affinity Capture-Western), DGAT2 (Affinity Capture-RNA), HARS2 (Affinity Capture-MS), DGAT2 (Cross-Linking-MS (XL-MS)), DGAT2 (Reconstituted Complex), DGAT2 (Affinity Capture-RNA), DGAT2 (Affinity Capture-MS), VCP (Affinity Capture-Western), AMFR (Affinity Capture-Western)

ESM2 similar proteins: A0A075B734, A1L272, A2IBY8, A8W649, A9Y006, D4A7H1, E7EXX2, F7B113, O14520, O35454, O54794, O62735, O94956, P34080, P35525, P41181, P47862, P47863, P47864, P51789, P51797, P56402, P56403, P79099, Q06495, Q06496, Q08DE6, Q4R691, Q5PQL3, Q62052, Q866S3, Q8BLV3, Q8BXB6, Q8BZ00, Q8IVB4, Q8K078, Q8MIQ9, Q8R2N1, Q8TCT8, Q921R8

Diamond homologs: A1A442, K7K424, O74850, Q28C88, Q3KPP4, Q5FVP8, Q6P342, Q70VZ8, Q75BY0, Q86VF5, Q96PD7, Q9ASU1, Q9DCV3, A2ADU8, A2ADU9, A6QP72, Q08650, Q2KHS5, Q3SYC2, Q4V9F0, Q54GC1, Q58HT5, Q5M7F4, Q5M8H5, Q6E1M8, Q6E213, Q6PAZ3, Q6ZPD8, Q70VZ7, Q80W94, Q91ZV4, Q96PD6, Q96UY1, Q96UY2, Q9ZVN2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	60
Likely benign	15
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1658 predictions. Top by Δscore:

Variant	Effect	Δscore
11:75796513:G:GT	donor_gain	1.0000
11:75796529:GGAG:G	donor_gain	1.0000
11:75796530:GAG:G	donor_gain	1.0000
11:75796530:GAGG:G	donor_gain	1.0000
11:75796531:AGGTA:A	donor_loss	1.0000
11:75796532:GGTA:G	donor_loss	1.0000
11:75796533:GT:G	donor_loss	1.0000
11:75796534:T:A	donor_loss	1.0000
11:75797153:CTCA:C	acceptor_loss	1.0000
11:75797156:A:AG	acceptor_gain	1.0000
11:75797156:A:AT	acceptor_loss	1.0000
11:75797156:AG:A	acceptor_gain	1.0000
11:75797157:G:A	acceptor_loss	1.0000
11:75797157:G:GC	acceptor_gain	1.0000
11:75797157:GG:G	acceptor_gain	1.0000
11:75797157:GGT:G	acceptor_gain	1.0000
11:75797157:GGTA:G	acceptor_gain	1.0000
11:75797157:GGTAT:G	acceptor_gain	1.0000
11:75797329:ATGG:A	donor_gain	1.0000
11:75797330:TGG:T	donor_gain	1.0000
11:75797330:TGGG:T	donor_loss	1.0000
11:75797331:GG:G	donor_gain	1.0000
11:75797331:GGG:G	donor_gain	1.0000
11:75797331:GGGT:G	donor_loss	1.0000
11:75797332:GG:G	donor_gain	1.0000
11:75797333:G:C	donor_loss	1.0000
11:75797333:G:GG	donor_gain	1.0000
11:75797334:T:A	donor_loss	1.0000
11:75798224:CAG:C	acceptor_gain	1.0000
11:75798225:A:AG	acceptor_gain	1.0000

AlphaMissense

2515 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:75797307:T:C	F262L	0.998
11:75797309:T:A	F262L	0.998
11:75797309:T:G	F262L	0.998
11:75797320:C:A	A266D	0.998
11:75798238:T:A	V274D	0.998
11:75797299:G:C	R259P	0.997
11:75797308:T:C	F262S	0.997
11:75790720:T:C	F140L	0.996
11:75790722:T:A	F140L	0.996
11:75790722:T:G	F140L	0.996
11:75796379:C:G	H161D	0.996
11:75797238:G:A	G239R	0.996
11:75797238:G:C	G239R	0.996
11:75797238:G:T	G239W	0.996
11:75797239:G:A	G239E	0.996
11:75797239:G:T	G239V	0.996
11:75797251:A:T	E243V	0.996
11:75797298:C:A	R259S	0.996
11:75798235:T:A	L273Q	0.996
11:75798403:C:A	P329H	0.996
11:75796374:G:A	G159E	0.995
11:75796389:G:T	G164V	0.995
11:75796512:G:T	R205M	0.995
11:75797253:T:C	S244P	0.995
11:75798235:T:C	L273P	0.995
11:75798241:C:A	P275H	0.995
11:75798364:G:A	G316D	0.995
11:75798427:T:A	V337D	0.995
11:75800449:T:C	F370L	0.995
11:75800451:C:A	F370L	0.995

dbSNP variants (sampled 300 via entrez): RS1000106737 (11:75793780 G>A,C), RS1000139436 (11:75794070 A>C), RS1000272609 (11:75799939 C>T), RS1000407142 (11:75800297 G>A,T), RS1000539823 (11:75787538 G>C), RS1000644478 (11:75799790 T>C,G), RS1000725311 (11:75782293 T>G), RS1000836776 (11:75788960 A>G,T), RS1000864892 (11:75789212 C>T), RS1000953766 (11:75769441 C>T), RS1000958170 (11:75776441 T>A,C,G), RS1001004497 (11:75801905 T>C), RS1001015395 (11:75787845 A>T), RS1001049822 (11:75769488 G>A), RS1001138477 (11:75795467 G>A)

Disease associations

OMIM: gene MIM:606983 | disease phenotypes: MIM:118210

GenCC curated gene-disease

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease	Moderate	Autosomal dominant

Mondo (2): Charcot-Marie-Tooth disease type 2A1 (MONDO:0007308), Charcot-Marie-Tooth disease (MONDO:0015626)

Orphanet (1): Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (Orphanet:99946)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002223_46	HDL cholesterol	1.000000e-08
GCST004232_60	HDL cholesterol levels	5.000000e-11
GCST90002401_187	Platelet distribution width	6.000000e-10
GCST90011900_70	Serum alkaline phosphatase levels	8.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007984	platelet component distribution width
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
C566138	Charcot-Marie-Tooth Disease, Axonal, Type 2a1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5853 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

3 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 3,995 (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
CHEMBL566315	OBETICHOLIC ACID	4	3,314
CHEMBL4760665	PF-06865571	2	482
CHEMBL4297354	AZD-7687	1	199

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — 2.3.1.- Acyltransferases

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
PF-07202954	Inhibition	8.0	pIC50
ervogastat	Inhibition	7.76	pIC50

Binding affinities (BindingDB)

561 measured of 562 human assays (562 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
(R)-(2-(3-(2- ethoxyphenoxy)piperidin- 1-yl)pyrimidin-5-yl)(3- phenoxyazetidin-1- yl)methanone	IC50	0.6 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
(R)-(2-(3-(2- ethoxyphenoxy)piperidin- 1-yl)pyrimidin-5- yl)(isoindolin-2- yl)methanone	IC50	1.4 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
N-((S)-2,3-dihydro-1H- inden-1-yl)-2-((R)-3-(2- ethoxyphenoxy)piperidin- 1-yl)pyrimidine-5- carboxamide	IC50	1.5 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
pyrrolidin-1-yl-[(3R)-1-[2-[3-(trifluoromethoxy)phenyl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]methanone	IC50	1.7 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
methyl 3-[2-(tert-butylcarbamoyl)-8-[[[1-[4-(trifluoromethyl)phenyl]piperidine-4-carbonyl]amino]methyl]-3,4-dihydro-1H-isoquinolin-5-yl]benzoate	IC50	1.75 nM	US-9877957: Tetrahydroisoquinoline derivatives useful as inhibitors of diacylglyceride O-acyltransferase 2
2-[4-[[[2-[(3R)-3-(2-ethoxyphenoxy)piperidin-1-yl]pyrimidine-5-carbonyl]amino]methyl]phenyl]propanoic acid	IC50	2.4 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
US9296745, 2	IC50	2.71 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
US9296745, 42	IC50	3.18 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
[(3R)-1-[2-(6-cyclopropyl-2-pyridinyl)-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-(2,5-dihydropyrrol-1-yl)methanone	IC50	3.58 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
2-[5-[(3-ethoxy-5-fluoro-2-pyridinyl)oxy]-3-pyridinyl]-N-[(3S)-oxolan-3-yl]pyrimidine-5-carboxamide	IC50	3.7 nM	US-10071992: Diacylglycerol acyl transferase 2 inhibitors
(R)-N-benzyl-2-(3-(2- ethoxyphenoxy)piperidin- 1-yl)pyrimidine-5- carboxamide	IC50	4.3 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
[(3R)-1-[2-(3-pyrazol-1-ylphenyl)-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	IC50	4.82 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
ethyl 1-[3-[5-[(3R)-3-(pyrrolidine-1-carbonyl)piperidin-1-yl]-1H-imidazo[4,5-b]pyridin-2-yl]phenyl]cyclopropane-1-carboxylate	IC50	5.27 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
pyrrolidin-1-yl-[(3R)-1-[2-[1-[4-(trifluoromethyl)phenyl]cyclopropyl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]methanone	IC50	5.68 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
[(3R)-1-[2-(2-cyclopropylpyrimidin-4-yl)-6-fluoro-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	IC50	6.32 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
US9296745, 40	IC50	6.47 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
US9296745, 4	IC50	6.64 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
3-[4-[1-[[6-[3-[(3-ethoxy-2-pyridinyl)oxy]phenyl]pyrazin-2-yl]amino]-2-methyl-1-oxopropan-2-yl]phenyl]-2,2-dimethylpropanoic acid	IC50	6.7 nM	US-12459915: Biaryl derivative useful as diacylglycerol acyltransferase 2 inhibitor, and use thereof
[(3R)-1-[2-(2-phenyl-1,3-oxazol-4-yl)-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	IC50	6.85 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
ethyl 3-[3-[5-[(3R)-3-(pyrrolidine-1-carbonyl)piperidin-1-yl]-1H-imidazo[4,5-b]pyridin-2-yl]phenyl]propanoate	IC50	7.16 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
N-(2-cyanopropan-2-yl)-2-[5-[(3-ethoxy-2-pyridinyl)oxy]-3-pyridinyl]pyrimidine-5-carboxamide	IC50	7.4 nM	US-10071992: Diacylglycerol acyl transferase 2 inhibitors
pyrrolidin-1-yl-[(3R)-1-[2-(6-pyrrolidin-1-yl-2-pyridinyl)-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]methanone	IC50	7.81 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
2-[(3R)-3-(2-ethoxyphenoxy)piperidin-1-yl]-N-(1-hydroxy-2-methylpropan-2-yl)pyrimidine-5-carboxamide	IC50	7.9 nM	US-10071992: Diacylglycerol acyl transferase 2 inhibitors
(R)-(3,3-difluoroazetidin- 1-yl)(2-(3-(2- ethoxyphenoxy)piperidin- 1-yl)pyrimidin-5- yl)methanone	IC50	7.9 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
[(3R)-1-[2-(3-methylphenyl)-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	IC50	8.24 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
[(3R)-1-[2-(2-cyclobutylpyrimidin-4-yl)-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	IC50	9.21 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
pyrrolidin-1-yl-[(3R)-1-[2-[6-(trifluoromethyl)-2-pyridinyl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]methanone	IC50	9.23 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
US9296745, 84	IC50	9.55 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
4-[[[6-[(3R)-3-(2-ethoxyphenoxy)piperidin-1-yl]-5-fluoropyridine-3-carbonyl]amino]methyl]pyridine-2-carboxylic acid	IC50	9.7 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
pyrrolidin-1-yl-[(3R)-1-[8-[6-(trifluoromethyl)-2-pyridinyl]-7H-purin-2-yl]piperidin-3-yl]methanone	IC50	10.5 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
[(3R)-1-[2-[(4-chlorophenoxy)methyl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	IC50	10.7 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
(R)-N-cyclobutyl-2-(3-(2- ethoxyphenoxy)piperidin- 1-yl)pyrimidine-5- carboxamide	IC50	10.7 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
(R)-2-(3-(2- ethoxyphenoxy)piperidin- 1-yl)-N-(isoxazol-3- ylmethyl)pyrimidine-5- carboxamide	IC50	10.8 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
[(3R)-1-[2-[6-(difluoromethyl)-2-pyridinyl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	IC50	10.9 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
methyl 2-[4-[3-[[6-[5-(2-ethoxyphenoxy)-3-pyridinyl]pyrazin-2-yl]amino]-3-oxopropyl]phenyl]-2-methylpropanoate	IC50	11 nM	US-12459915: Biaryl derivative useful as diacylglycerol acyltransferase 2 inhibitor, and use thereof
(R)-2-(3-(2- ethoxyphenoxy)piperidin- 1-yl)-N-(isoxazol-3- yl)pyrimidine-5- carboxamide	IC50	11.1 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
(R)-2-(3-(2- ethoxyphenoxy)piperidin- 1-yl)-N-(oxazol-4- ylmethyl)pyrimidine-5- carboxamide	IC50	11.2 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
[(3R)-1-[2-[3-(1,3-oxazol-5-yl)phenyl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	IC50	11.5 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
N2-(tert-butyl)-N8-(2-(5-chloro-1H-benzo[d]imidazol-2-yl)ethyl)-5-(3-(trifluoromethyl)phenyl)-3,4-dihydroisoquinoline-2,8(1H)-dicarboxamide	IC50	11.9 nM	US-9877957: Tetrahydroisoquinoline derivatives useful as inhibitors of diacylglyceride O-acyltransferase 2
(R)-N-(4-amino-2-methyl- 4-oxobutan-2-yl)-2-(3-(2- ethoxyphenoxy)piperidin- 1-yl)pyrimidine-5- carboxamide	IC50	12.2 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
[(3R)-1-[2-(6-methoxy-2-pyridinyl)-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	IC50	12.6 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
3-[4-[2-[[6-[3-(2-ethoxyphenoxy)phenyl]pyrazin-2-yl]amino]-2-oxoethyl]phenyl]-2,2-dimethylpropanoic acid	IC50	13 nM	US-12459915: Biaryl derivative useful as diacylglycerol acyltransferase 2 inhibitor, and use thereof
2-(5-((3-ethoxypyridin- 2-yl)oxy)pyridin-3-yl)-N-(3- methyl-1,1-dioxidotetra- hydrothiophen-3-yl) pyrimidine-5-carboxamide	IC50	13.5 nM	US-10071992: Diacylglycerol acyl transferase 2 inhibitors
2-[5-[(3-ethoxy-2-pyridinyl)oxy]-3-pyridinyl]-N-(1-hydroxy-2-methylpropan-2-yl)pyrimidine-5-carboxamide	IC50	14 nM	US-10071992: Diacylglycerol acyl transferase 2 inhibitors
[(3R)-1-[2-[6-(difluoromethoxy)-2-pyridinyl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	IC50	14.3 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
(R)-(2-(3-(2- ethoxyphenoxy)piperidin- 1-yl)pyrimidin-5-yl)(3- methoxyazetidin-1- yl)methanone	IC50	14.3 nM	US-10188653: Diacylglycerol acyltransferase 2 inhibitors
[(3R)-1-[2-[(1S)-1-(4-chloropyrazol-1-yl)ethyl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	IC50	14.5 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors
2-[4-(4-{4-amino-7,7-dimethyl-7H-pyrimido[4,5-b][1,4]oxazin-6-yl}phenyl)cyclohexyl]acetic acid	IC50	15 nM
2-[4-(4-{4-amino-7,7-dimethyl-7H-pyrimido[4,5-b][1,4]oxazin-6-yl}phenyl)bicyclo[2.2.2]octan-1-yl]acetic acid	IC50	15 nM
[(3R)-1-[2-(6-cyclopropyl-2-pyridinyl)-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-(3,3-difluoropyrrolidin-1-yl)methanone	IC50	15.2 nM	US-9296745: Diacylglycerol acyltransferase 2 inhibitors

ChEMBL bioactivities

1208 potent at pChembl≥5 of 1221 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.48	IC50	0.33	nM	CHEMBL5614117
9.40	IC50	0.4	nM	CHEMBL5592836
9.30	IC50	0.5	nM	CHEMBL5613466
9.28	IC50	0.52	nM	CHEMBL5871672
9.22	IC50	0.6	nM	CHEMBL5594042
9.22	IC50	0.6	nM	CHEMBL5593546
9.22	IC50	0.6	nM	CHEMBL5809259
9.20	IC50	0.63	nM	CHEMBL5612533
9.18	IC50	0.66	nM	CHEMBL6000290
9.15	IC50	0.7	nM	CHEMBL5203547
9.15	IC50	0.7	nM	CHEMBL5592025
9.15	IC50	0.7	nM	CHEMBL5593862
9.15	IC50	0.7	nM	CHEMBL5595108
9.15	IC50	0.7	nM	CHEMBL6169207
9.14	IC50	0.73	nM	CHEMBL5996164
9.11	IC50	0.77	nM	CHEMBL5894098
9.10	IC50	0.8	nM	CHEMBL5612804
9.10	IC50	0.79	nM	CHEMBL5869885
9.10	IC50	0.8	nM	CHEMBL6162080
9.05	IC50	0.9	nM	CHEMBL6165722
9.04	IC50	0.91	nM	CHEMBL5937705
9.03	IC50	0.94	nM	CHEMBL6022128
9.00	IC50	1	nM	CHEMBL5202996
9.00	IC50	1	nM	CHEMBL5811161
8.96	IC50	1.1	nM	CHEMBL5179522
8.96	IC50	1.1	nM	CHEMBL5968658
8.96	IC50	1.1	nM	CHEMBL6082881
8.95	IC50	1.13	nM	CHEMBL5991270
8.92	IC50	1.2	nM	CHEMBL6175145
8.89	IC50	1.3	nM	CHEMBL4098964
8.89	IC50	1.3	nM	CHEMBL6165552
8.85	IC50	1.4	nM	CHEMBL5767272
8.85	IC50	1.4	nM	CHEMBL5906624
8.82	IC50	1.5	nM	CHEMBL5194578
8.82	IC50	1.5	nM	CHEMBL6042916
8.82	IC50	1.5	nM	CHEMBL6170168
8.80	IC50	1.6	nM	CHEMBL5188169
8.80	IC50	1.6	nM	CHEMBL5612559
8.80	IC50	1.6	nM	CHEMBL5834700
8.80	IC50	1.6	nM	CHEMBL5852105
8.77	IC50	1.7	nM	CHEMBL4107035
8.77	IC50	1.7	nM	CHEMBL5949487
8.77	IC50	1.7	nM	CHEMBL6152675
8.76	IC50	1.75	nM	CHEMBL6011942
8.74	IC50	1.8	nM	CHEMBL5184213
8.74	IC50	1.8	nM	CHEMBL5614185
8.74	IC50	1.8	nM	CHEMBL6057956
8.74	IC50	1.8	nM	CHEMBL6087336
8.72	IC50	1.9	nM	CHEMBL6091842
8.70	IC50	2	nM	CHEMBL3734797

PubChem BioAssay actives

91 with measured affinity, of 150 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(6R)-3-[5-(difluoromethoxy)-2-fluorophenyl]-1-(3,5-difluoro-2-pyridinyl)-N-(3-methyl-1,1-dioxothietan-3-yl)-4,5,6,7-tetrahydroindazole-6-carboxamide	2126504: Inhibition of human DGAT2 expressed in expressed in baculovirus infected Sf9 insect cells by immunoblotting analysis	ic50	0.0003	uM
6-[[5-fluoro-3-(2,2,2-trifluoroethoxy)-2-pyridinyl]oxy]-N-(4-methyl-1,1-dioxothian-4-yl)imidazo[1,2-a]pyridine-2-carboxamide	2117356: Inhibition of human DGAT2 extracted from baculovirus infected Sf9 cell membrane using 13C-oleoyl-CoA as substrate by measuring [13C]18-triolein production	ic50	0.0004	uM
5-[[5-chloro-3-(2,2,2-trifluoroethoxy)-2-pyridinyl]oxy]-3-fluoro-N-(4-methyl-1,1-dioxothian-4-yl)pyrazolo[1,5-a]pyridine-2-carboxamide	2126504: Inhibition of human DGAT2 expressed in expressed in baculovirus infected Sf9 insect cells by immunoblotting analysis	ic50	0.0005	uM
(6R)-3-[3-(difluoromethoxy)phenyl]-1-(4-fluorophenyl)-N-[(3S)-3-methyl-1,1-dioxothiolan-3-yl]-4,5,6,7-tetrahydroindazole-6-carboxamide	2126504: Inhibition of human DGAT2 expressed in expressed in baculovirus infected Sf9 insect cells by immunoblotting analysis	ic50	0.0006	uM
6-[[3-(2,2-difluoroethoxy)-5-fluoro-2-pyridinyl]oxy]-N-(3,3-difluoro-1-methylcyclobutyl)-3-methylimidazo[1,2-a]pyridine-2-carboxamide	2117356: Inhibition of human DGAT2 extracted from baculovirus infected Sf9 cell membrane using 13C-oleoyl-CoA as substrate by measuring [13C]18-triolein production	ic50	0.0006	uM
6-[[5-chloro-3-(2,2-difluoroethoxy)-2-pyridinyl]oxy]-N-(2,2,4-trimethyl-1,1-dioxothian-4-yl)imidazo[1,2-a]pyridine-2-carboxamide	2117356: Inhibition of human DGAT2 extracted from baculovirus infected Sf9 cell membrane using 13C-oleoyl-CoA as substrate by measuring [13C]18-triolein production	ic50	0.0006	uM
1-[5-(difluoromethoxy)-2-fluorophenyl]-3-(3-hydroxy-3-methylbutan-2-yl)-N-(3-methyl-1,1-dioxothietan-3-yl)-2-oxobenzimidazole-5-carboxamide	1870714: Inhibition of human DGAT2 expressed in sf9 insect cell membrane assessed as reduction in 13C18-triolein product formation using 13C oleoyl-CoA as substrate by LC-MS/MS analysis	ic50	0.0007	uM
6-[(5-chloro-3-ethoxy-2-pyridinyl)oxy]-3-methyl-N-(4-methyl-1,1-dioxothian-4-yl)imidazo[1,2-a]pyridine-2-carboxamide	2117356: Inhibition of human DGAT2 extracted from baculovirus infected Sf9 cell membrane using 13C-oleoyl-CoA as substrate by measuring [13C]18-triolein production	ic50	0.0007	uM
N-[3-(cyanomethyl)-1-(2,2,2-trifluoroacetyl)azetidin-3-yl]-6-[[3-(2,2-difluoroethoxy)-5-fluoro-2-pyridinyl]oxy]-3-methylimidazo[1,2-a]pyridine-2-carboxamide	2117356: Inhibition of human DGAT2 extracted from baculovirus infected Sf9 cell membrane using 13C-oleoyl-CoA as substrate by measuring [13C]18-triolein production	ic50	0.0007	uM
6-[[5-ethyl-3-(2,2,2-trifluoroethoxy)-2-pyridinyl]oxy]-3-methyl-N-(4-methyl-1,1-dioxothian-4-yl)imidazo[1,2-a]pyridine-2-carboxamide	2117356: Inhibition of human DGAT2 extracted from baculovirus infected Sf9 cell membrane using 13C-oleoyl-CoA as substrate by measuring [13C]18-triolein production	ic50	0.0007	uM
6-[[5-chloro-3-(2,2-difluoroethoxy)-2-pyridinyl]oxy]-8-fluoro-5-methyl-N-(4-methyl-1,1-dioxothian-4-yl)imidazo[1,2-a]pyridine-2-carboxamide	2126504: Inhibition of human DGAT2 expressed in expressed in baculovirus infected Sf9 insect cells by immunoblotting analysis	ic50	0.0008	uM
6-fluoro-1-[2-fluoro-5-(trifluoromethoxy)phenyl]-3-(3-hydroxy-3-methylbutan-2-yl)-N-(4-methyl-1,1-dioxothian-4-yl)-2-oxobenzimidazole-5-carboxamide	1870714: Inhibition of human DGAT2 expressed in sf9 insect cell membrane assessed as reduction in 13C18-triolein product formation using 13C oleoyl-CoA as substrate by LC-MS/MS analysis	ic50	0.0010	uM
1-[5-(difluoromethoxy)-2-fluorophenyl]-3-(3-hydroxy-3-methylbutan-2-yl)-N-(4-methyl-1,1-dioxothian-4-yl)-2-oxobenzimidazole-5-carboxamide	1870714: Inhibition of human DGAT2 expressed in sf9 insect cell membrane assessed as reduction in 13C18-triolein product formation using 13C oleoyl-CoA as substrate by LC-MS/MS analysis	ic50	0.0011	uM
[(3R)-1-[2-[1-(4-chloropyrazol-1-yl)cyclopropyl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	1471372: Inhibition of human DGAT2 assessed as reduction in synthesis of triglycerol in human hepatocyte using [14C]glycerol as substrate preincubated for 20 mins followed by substrate addition measured after 3.5 hrs by TLC method	ic50	0.0013	uM
1-[5-(2,2-difluoroethoxy)-2-fluorophenyl]-6-fluoro-3-(3-hydroxy-3-methylbutan-2-yl)-N-(4-methyl-1,1-dioxothian-4-yl)-2-oxobenzimidazole-5-carboxamide	1870714: Inhibition of human DGAT2 expressed in sf9 insect cell membrane assessed as reduction in 13C18-triolein product formation using 13C oleoyl-CoA as substrate by LC-MS/MS analysis	ic50	0.0015	uM
1-[3-(difluoromethoxy)phenyl]-3-(3-hydroxy-3-methylbutan-2-yl)-N-(4-methyl-1,1-dioxothian-4-yl)-2-oxobenzimidazole-5-carboxamide	1870714: Inhibition of human DGAT2 expressed in sf9 insect cell membrane assessed as reduction in 13C18-triolein product formation using 13C oleoyl-CoA as substrate by LC-MS/MS analysis	ic50	0.0016	uM
3-chloro-5-[[5-chloro-3-(2,2,2-trifluoroethoxy)-2-pyridinyl]oxy]-N-(4-methyl-1,1-dioxothian-4-yl)pyrazolo[1,5-a]pyridine-2-carboxamide	2126504: Inhibition of human DGAT2 expressed in expressed in baculovirus infected Sf9 insect cells by immunoblotting analysis	ic50	0.0016	uM
1-[3-(difluoromethoxy)phenyl]-3-(4-fluorophenyl)-N-(3-methyl-1,1-dioxothietan-3-yl)-2-oxobenzimidazole-5-carboxamide	1870714: Inhibition of human DGAT2 expressed in sf9 insect cell membrane assessed as reduction in 13C18-triolein product formation using 13C oleoyl-CoA as substrate by LC-MS/MS analysis	ic50	0.0018	uM
6-[[5-chloro-3-(2,2,2-trifluoroethoxy)-2-pyridinyl]oxy]-N-(4-methyl-1,1-dioxothian-4-yl)imidazo[1,2-a]pyridine-2-carboxamide	2126504: Inhibition of human DGAT2 expressed in expressed in baculovirus infected Sf9 insect cells by immunoblotting analysis	ic50	0.0018	uM
N-tert-butyl-8-[[[(1S,2S)-2-(3-methyl-1,2,4-oxadiazol-5-yl)cyclopropanecarbonyl]amino]methyl]-5-[3-(trifluoromethoxy)phenyl]-3,4-dihydro-1H-isoquinoline-2-carboxamide	1262811: Inhibition of human DGAT2 expressed in Sf9 cell membranes assessed as triolein formation by LC/MS/MS analysis using oleoyl-CoA as substrate	ic50	0.0020	uM
6-[(5-chloro-3-ethoxy-2-pyridinyl)oxy]-5-methyl-N-(4-methyl-1,1-dioxothian-4-yl)-[1,2,4]triazolo[1,5-a]pyridine-2-carboxamide	2131007: Inhibition of human DGAT2 extracted from Sf9 cell membrane using diolein/13C oleoyl-CoA as substrate	ic50	0.0023	uM
2-[5-[(3-ethoxy-5-fluoro-2-pyridinyl)oxy]-3-pyridinyl]-N-[(3R,4R)-4-fluoropiperidin-3-yl]pyrimidine-5-carboxamide	1768416: Inhibition of DGAT2 in human hepatocytes using [14C]-glycerol as substrate preincubated for 15 mins followed by substrate addition and measured after 3 hrs by thin layer chromatography	ic50	0.0024	uM
6-[(3-ethoxy-2-pyridinyl)oxy]-N-(4-methyl-1,1-dioxothian-4-yl)imidazo[1,2-a]pyridine-2-carboxamide	2126504: Inhibition of human DGAT2 expressed in expressed in baculovirus infected Sf9 insect cells by immunoblotting analysis	ic50	0.0025	uM
N-tert-butyl-5-(3-methoxyphenyl)-8-[[[(1S,2S)-2-(3-methyl-1,2,4-oxadiazol-5-yl)cyclopropanecarbonyl]amino]methyl]-3,4-dihydro-1H-isoquinoline-2-carboxamide	1262811: Inhibition of human DGAT2 expressed in Sf9 cell membranes assessed as triolein formation by LC/MS/MS analysis using oleoyl-CoA as substrate	ic50	0.0030	uM
6-[[5-chloro-3-(2,2,2-trifluoroethoxy)-2-pyridinyl]oxy]-N-(4-methyl-1,1-dioxothian-4-yl)-[1,2,4]triazolo[1,5-a]pyridine-2-carboxamide	2131007: Inhibition of human DGAT2 extracted from Sf9 cell membrane using diolein/13C oleoyl-CoA as substrate	ic50	0.0030	uM
2-[5-[(3-ethoxy-5-fluoro-2-pyridinyl)oxy]-3-pyridinyl]-N-[(3S,4S)-4-fluoropiperidin-3-yl]pyrimidine-5-carboxamide;formic acid	1768416: Inhibition of DGAT2 in human hepatocytes using [14C]-glycerol as substrate preincubated for 15 mins followed by substrate addition and measured after 3 hrs by thin layer chromatography	ic50	0.0038	uM
N-tert-butyl-5-(3-methoxyphenyl)-8-[[[(1R,2R)-2-phenylcyclopropanecarbonyl]amino]methyl]-3,4-dihydro-1H-isoquinoline-2-carboxamide	1262811: Inhibition of human DGAT2 expressed in Sf9 cell membranes assessed as triolein formation by LC/MS/MS analysis using oleoyl-CoA as substrate	ic50	0.0040	uM
2-[5-[(3-ethoxy-5-fluoro-2-pyridinyl)oxy]-3-pyridinyl]-N-[(3S,5S)-5-fluoropiperidin-3-yl]pyrimidine-5-carboxamide	1768416: Inhibition of DGAT2 in human hepatocytes using [14C]-glycerol as substrate preincubated for 15 mins followed by substrate addition and measured after 3 hrs by thin layer chromatography	ic50	0.0041	uM
6-[[5-chloro-3-(2,2-difluoroethoxy)-2-pyridinyl]oxy]-8-fluoro-5-methyl-N-(4-methyl-1,1-dioxothian-4-yl)-[1,2,4]triazolo[1,5-a]pyridine-2-carboxamide	2131007: Inhibition of human DGAT2 extracted from Sf9 cell membrane using diolein/13C oleoyl-CoA as substrate	ic50	0.0042	uM
2-[5-[(3-ethoxy-2-pyridinyl)oxy]-3-pyridinyl]-N-[(3S,6S)-6-(trifluoromethyl)piperidin-3-yl]pyrimidine-5-carboxamide	2020077: Inhibition of human DGAT2 using 14C decanoyl-CoA as a substrate pre incubated for 2 hrs followed by substrate addition measured after 40 mins by Trilux Microbeta reader analysis	ic50	0.0044	uM
6-[[5-chloro-3-(2,2-difluoroethoxy)-2-pyridinyl]oxy]-5-methyl-N-(4-methyl-1,1-dioxothian-4-yl)-[1,2,4]triazolo[1,5-a]pyridine-2-carboxamide	2131007: Inhibition of human DGAT2 extracted from Sf9 cell membrane using diolein/13C oleoyl-CoA as substrate	ic50	0.0045	uM
6-[(3-ethoxy-2-pyridinyl)oxy]-N-(2,2,4-trimethyl-1,1-dioxothian-4-yl)imidazo[1,2-a]pyridine-2-carboxamide	2126504: Inhibition of human DGAT2 expressed in expressed in baculovirus infected Sf9 insect cells by immunoblotting analysis	ic50	0.0058	uM
2-[5-[(3-ethoxy-2-pyridinyl)oxy]-3-pyridinyl]-N-(1-hydroxy-2-methylpropan-2-yl)pyrimidine-5-carboxamide	1848694: Inhibition of human DGAT2 expressed in Sf9 insect cell membrane using [1-14C]decanoyl-CoA and 1,2-didecanoyl-sn-glycerol as substrates assessed as incorporation of [1-14C]decanoyl into triacylglycerol preincubated for 120 mins followed by substrate addition and measured after 40 mins by scintillation counting method	ic50	0.0066	uM
6-[[5-chloro-3-(2,2,2-trifluoroethoxy)-2-pyridinyl]oxy]-7-fluoro-N-(4-methyl-1,1-dioxothian-4-yl)-[1,2,4]triazolo[1,5-a]pyridine-2-carboxamide	2131007: Inhibition of human DGAT2 extracted from Sf9 cell membrane using diolein/13C oleoyl-CoA as substrate	ic50	0.0072	uM
6-[[5-chloro-3-(2,2,2-trifluoroethoxy)-2-pyridinyl]oxy]-5-methyl-N-(4-methyl-1,1-dioxothian-4-yl)-[1,2,4]triazolo[1,5-a]pyridine-2-carboxamide	2131007: Inhibition of human DGAT2 extracted from Sf9 cell membrane using diolein/13C oleoyl-CoA as substrate	ic50	0.0076	uM
2-[(3R)-3-(2-ethoxyphenoxy)piperidin-1-yl]-N-(1-hydroxy-2-methylpropan-2-yl)pyrimidine-5-carboxamide	1848694: Inhibition of human DGAT2 expressed in Sf9 insect cell membrane using [1-14C]decanoyl-CoA and 1,2-didecanoyl-sn-glycerol as substrates assessed as incorporation of [1-14C]decanoyl into triacylglycerol preincubated for 120 mins followed by substrate addition and measured after 40 mins by scintillation counting method	ic50	0.0079	uM
3-chloro-N-(4-methyl-1,1-dioxothian-4-yl)-5-[[3-(2,2,2-trifluoroethoxy)-2-pyridinyl]oxy]pyrazolo[1,5-a]pyridine-2-carboxamide	2126504: Inhibition of human DGAT2 expressed in expressed in baculovirus infected Sf9 insect cells by immunoblotting analysis	ic50	0.0094	uM
2-[5-[(3-ethoxy-2-pyridinyl)oxy]-3-pyridinyl]-N-[(3S,5S)-5-fluoropiperidin-3-yl]pyrimidine-5-carboxamide	2020077: Inhibition of human DGAT2 using 14C decanoyl-CoA as a substrate pre incubated for 2 hrs followed by substrate addition measured after 40 mins by Trilux Microbeta reader analysis	ic50	0.0100	uM
2-[5-[(3-ethoxy-2-pyridinyl)oxy]-3-pyridinyl]-N-(oxan-3-yl)pyrimidine-5-carboxamide	1848694: Inhibition of human DGAT2 expressed in Sf9 insect cell membrane using [1-14C]decanoyl-CoA and 1,2-didecanoyl-sn-glycerol as substrates assessed as incorporation of [1-14C]decanoyl into triacylglycerol preincubated for 120 mins followed by substrate addition and measured after 40 mins by scintillation counting method	ic50	0.0115	uM
6-[[3-(2,2-difluoroethoxy)-5-fluoro-2-pyridinyl]oxy]-N-(3-methyl-1,1-dioxothietan-3-yl)-[1,2,4]triazolo[1,5-a]pyridine-2-carboxamide	2126504: Inhibition of human DGAT2 expressed in expressed in baculovirus infected Sf9 insect cells by immunoblotting analysis	ic50	0.0130	uM
2-[5-[(3-ethoxy-2-pyridinyl)oxy]-3-pyridinyl]-N-[(3R,4S)-4-fluoropiperidin-3-yl]pyrimidine-5-carboxamide	2020077: Inhibition of human DGAT2 using 14C decanoyl-CoA as a substrate pre incubated for 2 hrs followed by substrate addition measured after 40 mins by Trilux Microbeta reader analysis	ic50	0.0160	uM
2-[5-[(3-ethoxy-2-pyridinyl)oxy]-3-pyridinyl]-N-[(3S)-oxolan-3-yl]pyrimidine-5-carboxamide	2020077: Inhibition of human DGAT2 using 14C decanoyl-CoA as a substrate pre incubated for 2 hrs followed by substrate addition measured after 40 mins by Trilux Microbeta reader analysis	ic50	0.0170	uM
2-[5-[(3-ethoxy-2-pyridinyl)methyl]-3-pyridinyl]-N-[(3S)-oxolan-3-yl]pyrimidine-5-carboxamide	1546895: Inhibition of recombinant FLAG-tagged human DGAT2 expressed in SF9 cells after 1 hr by TopCount assay	ic50	0.0170	uM
[(3R)-1-[2-[1-(4-chloropyrazol-1-yl)cyclopropyl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone;methanesulfonic acid	1415431: Inhibition of human DGAT2	ic50	0.0170	uM
N-[(3S)-5,5-difluoropiperidin-3-yl]-2-[5-[(3-ethoxy-2-pyridinyl)oxy]-3-pyridinyl]pyrimidine-5-carboxamide	1768416: Inhibition of DGAT2 in human hepatocytes using [14C]-glycerol as substrate preincubated for 15 mins followed by substrate addition and measured after 3 hrs by thin layer chromatography	ic50	0.0200	uM
[(3R)-1-[2-[(1S)-1-(4-chloropyrazol-1-yl)ethyl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	1415431: Inhibition of human DGAT2	ic50	0.0200	uM
2-[5-[(3-ethoxy-2-pyridinyl)oxy]-3-pyridinyl]-N-[3-(hydroxymethyl)oxolan-3-yl]pyrimidine-5-carboxamide	1848694: Inhibition of human DGAT2 expressed in Sf9 insect cell membrane using [1-14C]decanoyl-CoA and 1,2-didecanoyl-sn-glycerol as substrates assessed as incorporation of [1-14C]decanoyl into triacylglycerol preincubated for 120 mins followed by substrate addition and measured after 40 mins by scintillation counting method	ic50	0.0255	uM
[(3R)-1-[8-[1-(4-chloropyrazol-1-yl)ethyl]-7H-purin-2-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	1415431: Inhibition of human DGAT2	ic50	0.0260	uM
[(3R)-1-[2-[2-(4-chloropyrazol-1-yl)propan-2-yl]-1H-imidazo[4,5-b]pyridin-5-yl]piperidin-3-yl]-pyrrolidin-1-ylmethanone	1415431: Inhibition of human DGAT2	ic50	0.0310	uM
2-[(3R)-3-[(3-ethoxy-2-pyridinyl)oxy]piperidin-1-yl]-N-(1-hydroxy-2-methylpropan-2-yl)pyrimidine-5-carboxamide	1848694: Inhibition of human DGAT2 expressed in Sf9 insect cell membrane using [1-14C]decanoyl-CoA and 1,2-didecanoyl-sn-glycerol as substrates assessed as incorporation of [1-14C]decanoyl into triacylglycerol preincubated for 120 mins followed by substrate addition and measured after 40 mins by scintillation counting method	ic50	0.0318	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression, increases expression	7
Valproic Acid	decreases reaction, increases expression, affects expression	4
bisphenol A	affects expression, decreases expression, increases methylation, affects cotreatment	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance	3
Benzo(a)pyrene	decreases expression, increases methylation	3
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression	3
Oleic Acid	affects cotreatment, decreases expression, decreases reaction, increases expression	3
Palmitic Acid	decreases reaction, increases expression, affects cotreatment, decreases expression	3
triphenyl phosphate	affects expression, increases expression	2
Acetaminophen	decreases expression	2
Dexamethasone	decreases expression, increases expression, affects cotreatment	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Hydrogen Peroxide	increases expression, affects expression	2
Nickel	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Triclosan	affects expression, decreases expression	2
Triglycerides	increases chemical synthesis, decreases activity, decreases chemical synthesis, increases reaction	2
Aflatoxin B1	affects expression, decreases expression	2
Vitamin K 3	affects expression	2
aristolochic acid I	increases expression	1
cinnabarinic acid	decreases reaction, increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
pirinixic acid	decreases expression, increases activity, affects binding	1
tributyl phosphate	increases expression	1
tris(2,3-dibromopropyl)phosphate	increases expression	1
trichostatin A	decreases expression	1
hydroxyhydroquinone	decreases expression, decreases reaction	1
tris(2-butoxyethyl) phosphate	increases expression	1

ChEMBL screening assays

61 unique, capped per target: 60 binding, 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1022200	Binding	Inhibition of human DGAT2 at 10 uM by liquid scintillography	Discovery of a potent, selective, and orally efficacious pyrimidinooxazinyl bicyclooctaneacetic acid diacylglycerol acyltransferase-1 inhibitor. — J Med Chem
CHEMBL4015940	ADMET	Inhibition of DGAT2 (unknown origin)	Discovery of an Orally Bioavailable Benzimidazole Diacylglycerol Acyltransferase 1 (DGAT1) Inhibitor That Suppresses Body Weight Gain in Diet-Induced Obese Dogs and Postprandial Triglycerides in Humans. — J Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04762758	PHASE3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
NCT00271635	PHASE2	COMPLETED	Ascorbic Acid Treatment in CMT1A Trial (AATIC)
NCT01401257	PHASE2	COMPLETED	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
NCT02561702	PHASE2	COMPLETED	Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease
NCT02967679	PHASE2	COMPLETED	SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT03124459	PHASE2	TERMINATED	Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
NCT03254199	PHASE2	TERMINATED	A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
NCT03943290	PHASE2	TERMINATED	Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
NCT05777226	PHASE2	UNKNOWN	Research of SORD-CMT Natural History and Epalrestat Treatment
NCT06482437	PHASE2	COMPLETED	Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease
NCT01289704	PHASE2/PHASE3	UNKNOWN	Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)
NCT00541164	PHASE1/PHASE2	COMPLETED	Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease
NCT05361031	PHASE1/PHASE2	COMPLETED	The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)
NCT07223632	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
NCT00149045	Not specified	COMPLETED	Follow up and Observation of Charcot Marie Tooth Disease in Families
NCT01193075	Not specified	RECRUITING	Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
NCT01203085	Not specified	COMPLETED	Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
NCT01455623	Not specified	COMPLETED	Development and Validation of a Disability Severity Index for CMT
NCT01918826	Not specified	UNKNOWN	Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs
NCT02001038	Not specified	COMPLETED	Survey of Current Management of Orthopaedic Complications in CMT Patients
NCT02011204	Not specified	COMPLETED	Study of Electrical Impedance Myography (EIM) in ALS
NCT02194010	Not specified	COMPLETED	Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
NCT02429947	Not specified	COMPLETED	An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients
NCT02532244	Not specified	COMPLETED	Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT02788734	Not specified	COMPLETED	Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies
NCT02979145	Not specified	UNKNOWN	Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03460951	Not specified	COMPLETED	Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC)
NCT03715283	Not specified	COMPLETED	Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care
NCT03782883	Not specified	COMPLETED	The Impact of Charcot-Marie-Tooth Disease in the Real World
NCT03810508	Not specified	TERMINATED	A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
NCT03966287	Not specified	COMPLETED	Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)
NCT04010188	Not specified	RECRUITING	A Registered Cohort Study on Charcot-Marie-Tooth Disease
NCT04283175	Not specified	COMPLETED	Validation Study of Posturology Platforms for Evaluating Postural Control of Hemiparetic and Neuro-muscular Patients
NCT04461613	Not specified	UNKNOWN	Physical Activity in Persons With Charcot-Marie-Tooth: Developing a Measurement Instrument
NCT04786522	Not specified	COMPLETED	Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease
NCT04967716	Not specified	UNKNOWN	Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
NCT04980807	Not specified	COMPLETED	Observational Study of Neuromuscular Function in CMT Type 1&2 and Healthy Controls
NCT05011006	Not specified	NOT_YET_RECRUITING	NT-3 Levels and Function in Individuals With CMT