MGAT2

gene
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Also known as GNT-II

Summary

MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase, HGNC:7045) is a protein-coding gene on chromosome 14q21.3, encoding Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (Q10469). Plays an essential role in protein N-glycosylation.

The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5’ UTR may exist, but their biological validity has not been determined.

Source: NCBI Gene 4247 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): MGAT2-congenital disorder of glycosylation (Definitive, GenCC)
  • Clinical variants (ClinVar): 166 total — 6 pathogenic, 6 likely-pathogenic
  • Phenotypes (HPO): 99
  • Druggable target: yes — 2 molecules with ChEMBL bioactivity
  • MANE Select transcript: NM_002408

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:7045
Approved symbolMGAT2
Namealpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Location14q21.3
Locus typegene with protein product
StatusApproved
AliasesGNT-II
Ensembl geneENSG00000168282
Ensembl biotypeprotein_coding
OMIM602616
Entrez4247

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000305386

RefSeq mRNA: 1 — MANE Select: NM_002408 NM_002408

CCDS: CCDS9690

Canonical transcript exons

ENST00000305386 — 1 exons

ExonStartEnd
ENSE000011751724962079949623481

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 96.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.2176 / max 125.4906, expressed in 1814 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
13943820.78731813
1394370.4304209

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
jejunal mucosaUBERON:000039996.44gold quality
mucosa of sigmoid colonUBERON:000499394.96gold quality
colonic mucosaUBERON:000031794.64gold quality
deciduaUBERON:000245093.90gold quality
periodontal ligamentUBERON:000826692.87gold quality
corpus epididymisUBERON:000435992.10gold quality
caput epididymisUBERON:000435891.94gold quality
bronchial epithelial cellCL:000232891.74gold quality
cauda epididymisUBERON:000436091.66gold quality
seminal vesicleUBERON:000099891.08gold quality
adult organismUBERON:000702390.70gold quality
skin of hipUBERON:000155490.60gold quality
epithelium of bronchusUBERON:000203190.07gold quality
superficial temporal arteryUBERON:000161490.05gold quality
choroid plexus epitheliumUBERON:000391189.90gold quality
pericardiumUBERON:000240789.80gold quality
bronchusUBERON:000218589.75gold quality
granulocyteCL:000009489.71gold quality
duodenumUBERON:000211489.32gold quality
monocyteCL:000057689.25gold quality
mononuclear cellCL:000084289.13gold quality
parotid glandUBERON:000183189.11gold quality
leukocyteCL:000073889.10gold quality
cartilage tissueUBERON:000241888.80gold quality
bone marrow cellCL:000209288.53gold quality
pigmented layer of retinaUBERON:000178288.43gold quality
retinaUBERON:000096688.40gold quality
oral cavityUBERON:000016788.25gold quality
mammary ductUBERON:000176588.22gold quality
heart right ventricleUBERON:000208088.00gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes6.67

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1I2

miRNA regulators (miRDB)

89 targeting MGAT2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-4262100.0073.263931
HSA-MIR-5692A100.0074.406850
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-548AW99.9972.573559
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-366299.9973.825684
HSA-MIR-150-5P99.9966.691976
HSA-MIR-428299.9975.366408
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-1213699.9872.815713
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-570-3P99.9672.414910
HSA-MIR-568899.9673.234504

Literature-anchored findings (GeneRIF, showing 5)

  • Golgi N-glycosyltransferases beta-1,2-N-acetylglucosaminyltransferase I, beta-1,2-N-acetylglucosaminyltransferase II, 1,4-galactosyltransferase I, and alpha-2,6-sialyltransferase I form both homo- and heterodimeric enzyme complexes in live cells (PMID:20378551)
  • UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats). (PMID:25944901)
  • The recombinant hGnTII was purified from silkworm larval hemolymph in two steps by using tandem affinity purification tags, with a yield of approximately 120 mug from 10 mL hemolymph, and exhibited glycosyltransferase activity and strict substrate specificity. The enzyme was found to be N-glycosylated by the enzymatic cleavage of glycans, while hGnTII expressed in insect cells had not been reported to be glycosylated. (PMID:29409697)
  • These data suggest that substrate binding by MGAT2 employs both conserved and convergent catalytic subsite modules to provide substrate selectivity and catalysis. More broadly, the MGAT2 active-site architecture demonstrates how glycosyltransferases create complementary modular templates for regiospecific extension of glycan structures in mammalian cells. (PMID:29666272)
  • Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. (PMID:33044030)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriomgat2ENSDARG00000052408
mus_musculusMgat2ENSMUSG00000043998
rattus_norvegicusMgat2ENSRNOG00000004234
drosophila_melanogasterMgat2FBGN0039738
caenorhabditis_elegansWBGENE00001645

Protein

Protein identifiers

Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferaseQ10469 (reviewed: Q10469)

Alternative names: Beta-1,2-N-acetylglucosaminyltransferase II, GlcNAc-T II, Mannoside acetylglucosaminyltransferase 2, N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II

All UniProt accessions (1): Q10469

UniProt curated annotations — full annotation on UniProt →

Function. Plays an essential role in protein N-glycosylation. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) onto the free terminal mannose moiety in the core structure of the nascent N-linked glycan chain, giving rise to the second branch in complex glycans.

Subunit / interactions. Homodimer.

Subcellular location. Golgi apparatus membrane.

Disease relevance. Congenital disorder of glycosylation 2A (CDG2A) [MIM:212066] A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 16 (GT16) protein family.

RefSeq proteins (1): NP_002399* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR007754GlcNAc_IIFamily
IPR029044Nucleotide-diphossugar_transHomologous_superfamily

Pfam: PF05060

Enzyme classification (BRENDA):

  • EC 2.4.1.143 — alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (BRENDA: 19 organisms, 41 substrates, 17 inhibitors, 35 Km, 16 kcat entries)

Substrate kinetics (BRENDA)

17 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
BETA-D-GLCNAC-(1->2)-ALPHA-D-MAN-(1->3)-[ALPHA-D0.062–0.5578
UDP-ALPHA-D-GLCNAC0.295–4.38
ALPHA-D-MANNOSYL-1,6-(N-ACETYL-D-GLUCOSAMINYL-1,0.0166–0.193
UDP-N-ACETYLGLUCOSAMINE0.018–0.963
3-DEOXY-MANALPHA(1-6)(GLCNACBETA(1-2)MANALPHA(1-3.71
3-O-METHYL-MANALPHA(1-6)(GLCNACBETA(1-2)MANALPHA0.261
4-DEOXY-MANALPHA(1-6)(GLCNACBETA(1-2)MANALPHA(1-0.221
4-O-METHYL-ALPHA-D-MANNOSYL-1,6-(N-ACETYL-BETA-D0.161
4-O-METHYL-MANALPHA(1-6)(GLCNACBETA(1-2)MANALPHA0.261
6-DEOXY-MANALPHA(1-6)(GLCNACBETA(1-2)MANALPHA(1-0.251
6-O-METHYL-MANALPHA(1-6)(GLCNACBETA(1-2)MANALPHA0.21
ALPHA-D-MANNOSYL-1,6-(N-ACETYL-BETA-D-GLUCOSAMIN0.551
ALPHA-D-MANNOSYL-1,6-(N-ACETYL-BETA-D-GLUCOSAMIN0.131
MANALPHA(1-6)(GLCNACBETA(1-2)-6-DEOXY-MANALPHA(10.551
MANALPHA(1-6)(GLCNACBETA(1-2)4-O-METHYL-MANALPHA0.161

Catalyzed reactions (Rhea), 1 shown:

  • an N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP + H(+) (RHEA:12941)

UniProt features (63 total): helix 15, strand 14, mutagenesis site 8, binding site 6, disulfide bond 5, turn 5, sequence variant 3, topological domain 2, glycosylation site 2, chain 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

3 structures.

PDBMethodResolution (Å)
5VCMX-RAY DIFFRACTION1.6
5VCRX-RAY DIFFRACTION1.99
5VCSX-RAY DIFFRACTION2.8

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q10469-F186.010.75

Functional residue map

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

Ligand- & substrate-binding residues (6): 123–127; 154; 229–233; 261; 298; 374

Disulfide bonds (5): 196–210, 283–286, 334–357, 339–440, 378–386

Glycosylation sites (2): 69, 86

Mutagenesis-validated functional residues (8):

PositionPhenotype
198strongly decreased catalytic activity and affinity for udp-glcnac.
217nearly abolishes catalytic activity.
259loss of catalytic activity.
294strongly decreased catalytic activity and affinity for udp-glcnac.
318strongly decreased catalytic activity and affinity for udp-glcnac.
344nearly abolishes catalytic activity and strongly decreases affinity for udp-glcnac.
346loss of catalytic activity.
347loss of catalytic activity.

Function

Pathways and Gene Ontology

Reactome pathways

18 pathways

IDPathway
R-HSA-4793952Defective MGAT2 causes CDG-2a
R-HSA-9694548Maturation of spike protein
R-HSA-975578Reactions specific to the complex N-glycan synthesis pathway
R-HSA-1643685Disease
R-HSA-3781860Diseases associated with N-glycosylation of proteins
R-HSA-3781865Diseases of glycosylation
R-HSA-392499Metabolism of proteins
R-HSA-446203Asparagine N-linked glycosylation
R-HSA-5663205Infectious disease
R-HSA-5668914Diseases of metabolism
R-HSA-597592Post-translational protein modification
R-HSA-948021Transport to the Golgi and subsequent modification
R-HSA-9679506SARS-CoV Infections
R-HSA-9694516SARS-CoV-2 Infection
R-HSA-9694635Translation of Structural Proteins
R-HSA-975576N-glycan antennae elongation in the medial/trans-Golgi
R-HSA-9772573Late SARS-CoV-2 Infection Events
R-HSA-9824446Viral Infection Pathways

MSigDB gene sets: 469 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE45365_NK_CELL_VS_CD8A_DC_UP, RNGTGGGC_UNKNOWN, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, KEGG_N_GLYCAN_BIOSYNTHESIS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, ONKEN_UVEAL_MELANOMA_UP, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, FISCHER_G2_M_CELL_CYCLE, GROSS_HYPOXIA_VIA_ELK3_UP, GROSS_HYPOXIA_VIA_HIF1A_UP, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_DN

GO Biological Process (5): protein N-linked glycosylation (GO:0006487), oligosaccharide biosynthetic process (GO:0009312), obsolete protein N-linked glycosylation via asparagine (GO:0018279), viral protein processing (GO:0019082), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (6): alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455), manganese ion binding (GO:0030145), protein homodimerization activity (GO:0042803), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), metal ion binding (GO:0046872)

GO Cellular Component (4): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), Golgi stack (GO:0005795), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-15 pathways:

CategoryPathways
Disease2
Diseases associated with N-glycosylation of proteins1
Translation of Structural Proteins1
N-glycan antennae elongation in the medial/trans-Golgi1
Diseases of glycosylation1
Diseases of metabolism1
Post-translational protein modification1
Metabolism of proteins1
Asparagine N-linked glycosylation1
Viral Infection Pathways1
SARS-CoV Infections1
Late SARS-CoV-2 Infection Events1
Transport to the Golgi and subsequent modification1
SARS-CoV-2 Infection1
Infectious disease1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
glycoprotein biosynthetic process1
oligosaccharide metabolic process1
carbohydrate biosynthetic process1
viral process1
viral gene expression1
acetylglucosaminyltransferase activity1
catalytic activity, acting on a glycoprotein1
transition metal ion binding1
identical protein binding1
protein dimerization activity1
catalytic activity1
transferase activity1
cation binding1
Golgi apparatus1
bounding membrane of organelle1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
Golgi apparatus subcompartment1
cellular anatomical structure1

Protein interactions and networks

STRING

550 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MGAT2MGAT1P26572943
MGAT2MAN2A1Q16706790
MGAT2MGAT5Q09328785
MGAT2MAN2A2P49641726
MGAT2MGAT3Q09327716
MGAT2MGAT4AQ9UM21692
MGAT2MGAT4BQ9UQ53692
MGAT2FUT8Q9BYC5677
MGAT2POMGNT1Q8WZA1654
MGAT2GUSBP08236647
MGAT2GCNT2Q8N0V5646
MGAT2ALG3Q92685625
MGAT2EXTL3O43909564
MGAT2ST3GAL3Q11203558
MGAT2MGAT5BQ3V5L5549

IntAct

39 interactions, top by confidence:

ABTypeScore
TOR1AIP2TMEM223psi-mi:“MI:0914”(association)0.530
PEX19FAM20Bpsi-mi:“MI:0914”(association)0.530
PEX19MYO1Dpsi-mi:“MI:0914”(association)0.530
HSCBRBP5psi-mi:“MI:0914”(association)0.350
ATAD3ATMEM223psi-mi:“MI:0914”(association)0.350
Ppsi-mi:“MI:0914”(association)0.350
Mpsi-mi:“MI:0914”(association)0.350
PLOD2psi-mi:“MI:0914”(association)0.350
SHANK3IGKV3D-15psi-mi:“MI:0914”(association)0.350
PDGFRAGXYLT2psi-mi:“MI:0914”(association)0.350
TCTN2TMEM131Lpsi-mi:“MI:0914”(association)0.350
ST14LIPT2psi-mi:“MI:0914”(association)0.350
SCGB2A2RTL8Cpsi-mi:“MI:0914”(association)0.350
BCAP31GOLIM4psi-mi:“MI:0914”(association)0.350
CPQCOX7A2Lpsi-mi:“MI:0914”(association)0.350
TMPRSS13TOR1Apsi-mi:“MI:0914”(association)0.350
MAN1A1GPC4psi-mi:“MI:0914”(association)0.350
MINPP1MGAT2psi-mi:“MI:0914”(association)0.350
REEP5ESYT2psi-mi:“MI:0914”(association)0.350
TSPAN8POTEFpsi-mi:“MI:0914”(association)0.350
MAN1A1PLOD2psi-mi:“MI:0914”(association)0.350
PEX19KCNN4psi-mi:“MI:0914”(association)0.350
TOR1AIP2XPO1psi-mi:“MI:0914”(association)0.350
SAAL1TMEM223psi-mi:“MI:0914”(association)0.350
SLC30A1PSMD11psi-mi:“MI:0914”(association)0.350
SLC30A10GOLIM4psi-mi:“MI:0914”(association)0.350
SLC30A7ESYT2psi-mi:“MI:0914”(association)0.350

BioGRID (58): MGAT2 (Affinity Capture-MS), MGAT2 (Affinity Capture-MS), MGAT2 (Affinity Capture-MS), MGAT2 (Affinity Capture-MS), MGAT2 (Affinity Capture-MS), MGAT2 (Affinity Capture-MS), S (Reconstituted Complex), MGAT2 (Proximity Label-MS), MGAT2 (Affinity Capture-MS), MGAT2 (Negative Genetic), MGAT2 (Affinity Capture-MS), MGAT2 (Affinity Capture-MS), MGAT2 (Affinity Capture-MS), MGAT2 (Affinity Capture-MS), MGAT2 (Affinity Capture-MS)

ESM2 similar proteins: A0A4Z3, A1Y9I9, A4FUH1, B6CZ46, B6CZ56, B6CZ62, D3ZNQ3, G3V9Q9, O43505, O60512, O60909, O94766, P14616, P14617, P58158, Q09326, Q10469, Q2NKH9, Q2YDM8, Q3V1N9, Q3V5L5, Q4R5T7, Q5EA01, Q5EB73, Q5JU69, Q5M936, Q5NVN3, Q5R4S2, Q5R868, Q5YB40, Q5ZLK4, Q64716, Q6AYR4, Q765H6, Q7Z4J2, Q8BGT9, Q8BWP8, Q8IXK2, Q8NCL4, Q8R1J9

Diamond homologs: O19071, Q09326, Q10469, Q921V5, Q9FT88

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 52 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Metal ion SLC transporters6109.3×2e-09
R-HSA-425366527.5×5e-05
SLC-mediated transmembrane transport59.0×8e-03

GO biological processes:

GO termPartnersFoldFDR
zinc ion transmembrane transport8122.1×3e-13
intracellular zinc ion homeostasis773.3×7e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic6
Likely pathogenic6
Uncertain significance120
Likely benign19
Benign6

Top pathogenic / likely-pathogenic (12)

Variant IDHGVSClassification
617657NM_002408.4(MGAT2):c.753dup (p.Ala252fs)Pathogenic
617658NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter)Pathogenic
617661NM_002408.4(MGAT2):c.799G>C (p.Asp267His)Pathogenic
6990NM_002408.4(MGAT2):c.785A>G (p.His262Arg)Pathogenic
6991NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp)Pathogenic
6992NM_002408.4(MGAT2):c.1017T>A (p.Cys339Ter)Pathogenic
30270NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn)Likely pathogenic
3061920NM_002408.4(MGAT2):c.1085G>A (p.Trp362Ter)Likely pathogenic
3065025NM_002408.4(MGAT2):c.1199_1202del (p.Asn400fs)Likely pathogenic
489288NM_002408.4(MGAT2):c.745C>T (p.Arg249Ter)Likely pathogenic
596219NM_002408.4(MGAT2):c.1006_1009del (p.Asp336fs)Likely pathogenic
817419NM_002408.4(MGAT2):c.346dup (p.Arg116fs)Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2939 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:49621722:A:CS152R1.000
14:49621724:C:AS152R1.000
14:49621724:C:GS152R1.000
14:49621830:T:CF188L1.000
14:49621831:T:GF188C1.000
14:49621832:T:AF188L1.000
14:49621832:T:GF188L1.000
14:49621896:T:AC210S1.000
14:49621897:G:CC210S1.000
14:49621936:G:CR223T1.000
14:49621936:G:TR223I1.000
14:49621937:A:CR223S1.000
14:49621937:A:TR223S1.000
14:49621961:A:CK231N1.000
14:49621961:A:TK231N1.000
14:49622303:C:AN345K1.000
14:49622303:C:GN345K1.000
14:49622306:G:CW346C1.000
14:49622306:G:TW346C1.000
14:49622308:A:CD347A1.000
14:49622308:A:TD347V1.000
14:49622554:G:AG429E1.000
14:49622559:T:AW431R1.000
14:49622559:T:CW431R1.000
14:49622561:G:CW431C1.000
14:49622561:G:TW431C1.000
14:49622572:G:CR435T1.000
14:49622572:G:TR435M1.000
14:49621565:C:AN99K0.999
14:49621565:C:GN99K0.999

dbSNP variants (sampled 300 via entrez): RS1000194527 (14:49619782 T>C), RS1000458463 (14:49621556 C>T), RS1000796282 (14:49620645 G>A), RS1000864356 (14:49619362 G>A), RS1000981677 (14:49619604 T>G), RS1001322400 (14:49619685 C>G), RS1002967671 (14:49620548 C>A), RS1003201135 (14:49619697 T>C), RS1003340772 (14:49620385 G>A,C), RS1003647744 (14:49620606 T>C), RS1003705196 (14:49619467 G>C), RS1003833972 (14:49619163 A>G), RS1003910403 (14:49619438 C>A,T), RS1005048070 (14:49618961 A>G,T), RS1005716041 (14:49620833 G>A)

Disease associations

OMIM: gene MIM:602616 | disease phenotypes: MIM:212066

GenCC curated gene-disease

DiseaseClassificationInheritance
MGAT2-congenital disorder of glycosylationDefinitiveAutosomal recessive

ClinGen Gene-Disease Validity (1)

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

DiseaseClassificationInheritance
MGAT2-congenital disorder of glycosylationModerateAR

Mondo (1): MGAT2-congenital disorder of glycosylation (MONDO:0008908)

Orphanet (1): MGAT2-CDG (Orphanet:79329)

HPO phenotypes

99 total (30 of 99 shown, HPO-id order):

HPOTerm
HP:0000007Autosomal recessive inheritance
HP:0000154Wide mouth
HP:0000194Open mouth
HP:0000212Gingival overgrowth
HP:0000232Everted lower lip vermilion
HP:0000233Thin vermilion border
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000253Progressive microcephaly
HP:0000256Macrocephaly
HP:0000268Dolichocephaly
HP:0000278Retrognathia
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000358Posteriorly rotated ears
HP:0000363Abnormal earlobe morphology
HP:0000369Low-set ears
HP:0000395Prominent antihelix
HP:0000400Macrotia
HP:0000407Sensorineural hearing impairment
HP:0000426Prominent nasal bridge
HP:0000444Convex nasal ridge
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000527Long eyelashes
HP:0000574Thick eyebrow
HP:0000678Dental crowding
HP:0000699Diastema
HP:0000718Aggressive behavior

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

DescriptorNameTree numbers
C535752Congenital disorder of glycosylation type 2A (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2321630 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 35 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL3912712BMS-963272125
CHEMBL5418882BMS-986172110

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

Binding affinities (BindingDB)

593 measured of 596 human assays (596 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValuePatent
(2S)-2-[2-chloro-4-(4,4,4-trifluorobutoxy)phenyl]-4-(5-cyclopropylthiophen-2-yl)-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC500.2 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
(2S)-4-(5-ethyl-1,3-thiazol-2-yl)-2-[2-fluoro-4-(6,6,6-trifluorohexoxy)phenyl]-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC500.5 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
N-[[(2S)-4-[5-(difluoromethoxy)-2-pyridinyl]-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]methyl]-2-methylsulfonylacetamideIC500.62 nMUS-10335401: Non-aromatic heterocyclic derivative having MGAT2 inhibitory activity
(2S)-2-[2-chloro-4-(6,6,6-trifluorohexoxy)phenyl]-4-(5-cyclopropyl-1,3-thiazol-2-yl)-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC500.7 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
N-[[(2S)-4-[5-(2-hydroxypropan-2-yl)-2-pyridinyl]-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]methyl]-2-methylsulfonylacetamideIC500.73 nMUS-10335401: Non-aromatic heterocyclic derivative having MGAT2 inhibitory activity
4-(4-methylphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-N-[4-(trifluoromethoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamideIC501 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
4-(4-methylphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-N-[4-(trifluoromethyl)phenyl]-1,3-dihydropyridine-5-carboxamideIC501 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
N-(4-hydroxyphenyl)-4-(4-methylphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamideIC501 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
4-(4-methylphenyl)-N-(1,2-oxazol-5-yl)-6-oxo-2-(trifluoromethyl)-2-[4-(3,3,3-trifluoropropoxy)phenyl]-1,3-dihydropyridine-5-carboxamideIC501 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
4-[4-(difluoromethoxy)phenyl]-2-[2-fluoro-4-(6,6,6-trifluorohexoxy)phenyl]-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC501 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
2-[3-fluoro-4-(6,6,6-trifluorohexoxy)phenyl]-4-naphthalen-2-yl-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC501 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
(2S)-4-[4-(difluoromethyl)phenyl]-2-[2-fluoro-4-(6,6,6-trifluorohexoxy)phenyl]-N-methylsulfonyl-6-oxo-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamideIC501 nMUS-9822074: Dihydropyridinone MGAT2 inhibitors
(2S)-4-(4-cyclopropylphenyl)-2-[2-fluoro-4-(6,6,6-trifluorohexoxy)phenyl]-N-methylsulfonyl-6-oxo-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamideIC501 nMUS-9822074: Dihydropyridinone MGAT2 inhibitors
2-methylsulfonyl-N-[[(2S)-6-oxo-4-(5-prop-1-en-2-yl-2-pyridinyl)-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]methyl]acetamideIC501 nMUS-10335401: Non-aromatic heterocyclic derivative having MGAT2 inhibitory activity
(S,E)-2-Methyl-N-(2,2,2-trifluoro-1-(4-((5,5,5-trifluoropentyl)oxy phenyl)ethylidene)propane-2-sulfinamideIC501.1 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
(2S)-2-[2-chloro-4-(4,4,4-trifluorobutoxy)phenyl]-4-(5-cyclopropyl-1,3-thiazol-2-yl)-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC501.1 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
N-[[(2S)-4-[5-(difluoromethyl)-2-pyridinyl]-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]methyl]-2-methylsulfonylacetamideIC501.1 nMUS-10335401: Non-aromatic heterocyclic derivative having MGAT2 inhibitory activity
1-(5-Cyclopropylthiazol-2-yl)ethanoneIC501.2 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
(2S)-4-(5-cyclopropylthiophen-2-yl)-2-[2-methoxy-4-(4,4,4-trifluorobutoxy)phenyl]-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC501.4 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
(2S)-4-(5-cyclopropyl-1,3-thiazol-2-yl)-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC501.4 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
1-(5-Methylthiazol-2-yl)ethanoneIC501.5 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
(S)—N-(4-(5-Ethylthiophen-2-yl)-2-oxo-6-(4-((6,6,6-trifluorohexyl)oxy)phenyl)-6-(trifluoromethyl)-1,2,5,6-tetrahydropyridin-3-yl)-2-(methylsulfonyl)acetamideIC501.5 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
2-[(1R)-1-(3,5-difluorophenyl)ethyl]-N-[3-(pyrrolidine-1-carbonyl)-1,2,4-oxadiazol-5-yl]-3,4-dihydro-1H-isoquinoline-7-sulfonamideIC501.6 nMUS-10065945: Isoquinoline derivatives as MGAT2 inhibitors
N-[[(2S)-4-[5-(difluoromethyl)-2-pyridinyl]-6-oxo-2-(trifluoromethyl)-2-[4-(3,3,3-trifluoropropyl)phenyl]-1,3-dihydropyridin-5-yl]methyl]-2-methylsulfonylacetamideIC501.9 nMUS-10335401: Non-aromatic heterocyclic derivative having MGAT2 inhibitory activity
4-(2-fluoro-4-methoxyphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carbonitrileIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
N-[4-[4-(difluoromethoxy)phenyl]-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]-1,2-oxazole-5-carboxamideIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
3-bromo-N-[4-(4-methylphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]-1,2-oxazole-5-carboxamideIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
4-(5,6,7,8-tetrahydronaphthalen-2-yl)-5-(tetrazolidin-5-yl)-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
N-[4-[4-(difluoromethoxy)phenyl]-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]pyridine-4-carboxamideIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
2-[2-fluoro-4-(6,6,6-trifluorohexoxy)phenyl]-4-naphthalen-2-yl-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
4-[4-(cyclopropylmethyl)phenyl]-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
2-[2-fluoro-4-(5,5,5-trifluoropentoxy)phenyl]-4-(4-methylphenyl)-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
N-[4-(4-methylphenyl)-6-oxo-2-(4-phenylmethoxyphenyl)-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]-2-methylsulfonylacetamideIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
4-[4-(difluoromethoxy)phenyl]-6-oxo-N-pyridin-3-yl-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamideIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
4-(2-fluoro-4-methylphenyl)-N-(4-methoxyphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamideIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
2-(methanesulfonamido)-N-[4-(4-methylphenyl)-2-oct-1-ynyl-6-oxo-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]acetamideIC502 nMUS-9187424: Aryl dihydropyridinones and piperidinone MGAT2 inhibitors
(2R)-N-cyclopropylsulfonyl-2-(5-heptyl-1,3-thiazol-2-yl)-4-(4-methylphenyl)-6-oxo-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamideIC502 nMUS-9822074: Dihydropyridinone MGAT2 inhibitors
(2S)-N-cyclopropylsulfonyl-4-(5-cyclopropyl-1,3-thiazol-2-yl)-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-6-oxo-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamideIC502 nMUS-9822074: Dihydropyridinone MGAT2 inhibitors
(2S)-4-[1-(cyclopropylmethyl)pyrazol-3-yl]-N-cyclopropylsulfonyl-6-oxo-2-(trifluoromethyl)-2-[4-(5,5,5-trifluoropentyl)phenyl]-1,3-dihydropyridine-5-carboxamideIC502 nMUS-9822074: Dihydropyridinone MGAT2 inhibitors
(2S)-N-cyclopropylsulfonyl-4-(4-ethylphenyl)-2-methyl-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-1,3-dihydropyridine-5-carboxamideIC502 nMUS-9822074: Dihydropyridinone MGAT2 inhibitors
(2S)-4-(5-cyclopropyl-1H-imidazol-2-yl)-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-5-(5-oxotetrazolidin-1-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC502 nMUS-10093650: Tetrazolone-substituted dihydropyridinone MGAT2 inhibitors
1-(5-Ethylthiazol-2-yl)ethanoneIC502.1 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
(2S)-4-(5-ethyl-1,3-thiazol-2-yl)-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC502.1 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
1-(5-Cyclopropylthiophen-2-yl)ethanoneIC502.2 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
(2S)-4-(5-ethylthiophen-2-yl)-5-(2H-tetrazol-5-yl)-2-[4-(6,6,6-trifluorohexoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC502.2 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
N-[[(2S)-4-(5-methyl-2-pyridinyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]methyl]-1,2-oxazole-5-carboxamideIC502.2 nMUS-10335401: Non-aromatic heterocyclic derivative having MGAT2 inhibitory activity
3,3,3-trifluoro-N-[[(2S)-4-(5-methyl-2-pyridinyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]methyl]propanamideIC502.3 nMUS-10335401: Non-aromatic heterocyclic derivative having MGAT2 inhibitory activity
(S,E)-2-Methyl-N-(2,2,2-trifluoro-1-(4-(4,4,4-trifluorobutoxy) phenyl)ethylidene)propane-2-sulfinamideIC502.5 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders
N-[[(2S)-4-(5-methoxy-2-pyridinyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]methyl]-2-methylsulfonylacetamideIC502.5 nMUS-10335401: Non-aromatic heterocyclic derivative having MGAT2 inhibitory activity
(2S)-4-[1-(cyclopropylmethyl)pyrazol-3-yl]-5-(2H-tetrazol-5-yl)-2-[4-(6,6,6-trifluorohexoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-6-oneIC502.7 nMUS-9701672: Dihydropyridinone MGAT2 inhibitors for use in the treatment of metabolic disorders

ChEMBL bioactivities

1574 potent at pChembl≥5 of 1584 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
9.70IC500.2nMCHEMBL4457459
9.70IC500.2nMCHEMBL5824866
9.65IC500.224nMCHEMBL5748063
9.54IC500.285nMCHEMBL5768466
9.52IC500.3nMCHEMBL4564881
9.42IC500.38nMCHEMBL4572662
9.39IC500.409nMCHEMBL6035455
9.36IC500.439nMCHEMBL5816249
9.30IC500.5nMCHEMBL5813899
9.21IC500.62nMCHEMBL5991713
9.20IC500.63nMCHEMBL3893594
9.19IC500.64nMCHEMBL4463750
9.15IC500.7nMCHEMBL5820966
9.15IC500.706nMCHEMBL5871193
9.14IC500.73nMCHEMBL4560153
9.12IC500.76nMCHEMBL4457459
9.05IC500.9nMCHEMBL4457459
9.00IC501nMCHEMBL3581716
9.00IC501nMCHEMBL3961967
9.00IC501nMCHEMBL3965215
9.00IC501nMCHEMBL3981198
9.00IC501nMCHEMBL3937187
9.00IC501nMCHEMBL3943858
9.00IC501nMCHEMBL3932509
9.00IC501nMCHEMBL3986069
9.00IC501nMCHEMBL3960802
9.00IC501nMCHEMBL6048166
9.00IC501nMCHEMBL5960634
9.00IC501nMCHEMBL5986274
9.00IC501nMCHEMBL5779894
9.00IC501nMCHEMBL5965136
9.00IC501nMCHEMBL6046535
8.98IC501.05nMCHEMBL5883234
8.98IC501.04nMCHEMBL6036045
8.97IC501.06nMCHEMBL5840224
8.96IC501.1nMCHEMBL4465236
8.96IC501.1nMCHEMBL4457459
8.96IC501.1nMCHEMBL5934884
8.96IC501.1nMCHEMBL5803244
8.95IC501.12nMCHEMBL5998821
8.94IC501.14nMCHEMBL5757628
8.94IC501.15nMCHEMBL5890961
8.93IC501.17nMCHEMBL6004478
8.92IC501.2nMCHEMBL3581717
8.92IC501.2nMCHEMBL5817097
8.92IC501.2nMCHEMBL6016017
8.92IC501.2nMCHEMBL5753020
8.92IC501.21nMCHEMBL5755241
8.91IC501.24nMCHEMBL5985571
8.90IC501.25nMCHEMBL5838599

PubChem BioAssay actives

153 with measured affinity, of 183 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.

CompoundAssayTypeValueUnit
(2S)-4-(5-cyclopropylthiophen-2-yl)-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-one1573551: Inhibition of recombinant human MGAT2ic500.0002uM
4-(5-ethylthiophen-2-yl)-3-(2H-tetrazol-5-yl)-6-[4-(6,6,6-trifluorohexoxy)-2-(trifluoromethyl)phenyl]-1H-pyridin-2-one1573551: Inhibition of recombinant human MGAT2ic500.0003uM
2-cyclobutylsulfanyl-6-[3-(2,3-dihydro-1H-inden-2-ylamino)propanoyl]-3-phenyl-7,8-dihydro-5H-pyrido[4,3-d]pyrimidin-4-one1573540: Inhibition of recombinant human MGAT2 using 2-monooleoyl glycerol/[1-14C]-oleoyl CoA as substrate after 30 mins by liquid scintillation counting methodic500.0004uM
(2S)-N-(4-methoxyphenyl)-4-(4-methylphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamide1785300: Inhibition of human MGAT2 in mouse STC-1 cell based assayic500.0006uM
2-cyclobutylsulfanyl-3-phenyl-6-[2-[5-[4-(trifluoromethyl)phenoxy]pentylamino]acetyl]-7,8-dihydro-5H-pyrido[4,3-d]pyrimidin-4-one1573551: Inhibition of recombinant human MGAT2ic500.0006uM
N-[[(2S)-4-[5-(2-hydroxypropan-2-yl)-2-pyridinyl]-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-5-yl]methyl]-2-methylsulfonylacetamide1573551: Inhibition of recombinant human MGAT2ic500.0007uM
N-[5-[(2,4-difluorophenyl)sulfamoyl]-1-(2-phenylethyl)-2,3-dihydroindol-7-yl]acetamide1228343: In vitro inhibition of full length human MGAT2 transfected in FreeStyle293 cells assessed as dioleoylglycerol by RapidFire/MS assayic500.0010uM
3-[(3S)-4’-(2-cyclopropyl-1,3-thiazol-5-yl)-6’-oxo-6-(4,4,4-trifluorobutoxy)spiro[1,2-dihydroindene-3,2’-1,3-dihydropyridine]-5’-yl]-4H-1,2,4-oxadiazol-5-one1573551: Inhibition of recombinant human MGAT2ic500.0010uM
(2S)-4-[4-(difluoromethyl)phenyl]-2-[2-fluoro-4-(6,6,6-trifluorohexoxy)phenyl]-N-methylsulfonyl-6-oxo-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamide1573551: Inhibition of recombinant human MGAT2ic500.0010uM
2-cyclobutylsulfanyl-6-[3-(2,3-dihydro-1,4-benzodioxin-3-ylmethylamino)propanoyl]-3-phenyl-7,8-dihydro-5H-pyrido[4,3-d]pyrimidin-4-one1573551: Inhibition of recombinant human MGAT2ic500.0011uM
N-[5-[(2,4-difluorophenyl)sulfamoyl]-1-[2-(4-fluorophenyl)ethyl]-2,3-dihydroindol-7-yl]acetamide1228343: In vitro inhibition of full length human MGAT2 transfected in FreeStyle293 cells assessed as dioleoylglycerol by RapidFire/MS assayic500.0012uM
2-[(1R)-1-(3,5-difluorophenyl)ethyl]-N-[3-(pyrrolidine-1-carbonyl)-1,2,4-oxadiazol-5-yl]-3,4-dihydro-1H-isoquinoline-7-sulfonamide1573551: Inhibition of recombinant human MGAT2ic500.0016uM
N-(2,4-difluorophenyl)-3,3-diethyl-5-oxo-2,4-dihydro-1H-1,4-benzodiazepine-7-sulfonamide745096: Inhibition of human recombinant MGAT2 expressed in insect cell membrane using 2-oleoyl-sn-glycerol and oleoyl coenzyme A as substrate after 40 mins by Ellmans assay based rapidfire LCMS analysisic500.0016uM
(2S)-4-[1-(cyclopropylmethyl)pyrazol-3-yl]-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-one2015133: Inhibition of human MGAT2 using 2-oleoylglycerol and oleoyl-coenzyme A as substrate by LC-MS analysisic500.0019uM
(2S)-4-(5-cyclopropyl-1,3-thiazol-2-yl)-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-5-(5-oxo-1H-tetrazol-4-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-one2015133: Inhibition of human MGAT2 using 2-oleoylglycerol and oleoyl-coenzyme A as substrate by LC-MS analysisic500.0019uM
(2S)-N-cyclopentyl-4-(4-methylphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamide1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0019uM
N-[5-[(2,4-difluorophenyl)sulfamoyl]-1-(2-phenylethyl)indol-7-yl]acetamide1228343: In vitro inhibition of full length human MGAT2 transfected in FreeStyle293 cells assessed as dioleoylglycerol by RapidFire/MS assayic500.0021uM
N-[5-[(4-methoxyphenyl)sulfamoyl]-1-(2-phenylethyl)-2,3-dihydroindol-7-yl]acetamide1228343: In vitro inhibition of full length human MGAT2 transfected in FreeStyle293 cells assessed as dioleoylglycerol by RapidFire/MS assayic500.0022uM
benzyl 5-[(2,4-difluorophenyl)sulfamoyl]-7-(2-oxo-1,3-diazinan-1-yl)-2,3-dihydroindole-1-carboxylate1228343: In vitro inhibition of full length human MGAT2 transfected in FreeStyle293 cells assessed as dioleoylglycerol by RapidFire/MS assayic500.0022uM
(2S)-4-(5-cyclopropyl-1,3-thiazol-2-yl)-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-one2015133: Inhibition of human MGAT2 using 2-oleoylglycerol and oleoyl-coenzyme A as substrate by LC-MS analysisic500.0024uM
5-[(2,4-difluorophenyl)sulfamoyl]-7-(2-oxoimidazolidin-1-yl)-N-[4-(trifluoromethyl)phenyl]-2,3-dihydroindole-1-carboxamide1228343: In vitro inhibition of full length human MGAT2 transfected in FreeStyle293 cells assessed as dioleoylglycerol by RapidFire/MS assayic500.0025uM
4-(4-methoxyphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carbonitrile1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0025uM
(2S)-4-(5-ethylthiophen-2-yl)-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-5-(5-oxo-1H-tetrazol-4-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-one2015133: Inhibition of human MGAT2 using 2-oleoylglycerol and oleoyl-coenzyme A as substrate by LC-MS analysisic500.0025uM
(2S)-4-(4-methylphenyl)-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-2-[4-(5,5,5-trifluoropentyl)phenyl]-1,3-dihydropyridin-6-one1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0026uM
(2S)-2-[2-fluoro-4-(6,6,6-trifluorohexoxy)phenyl]-4-(4-methylphenyl)-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-one1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0026uM
5-[(2,4-difluorophenyl)sulfamoyl]-7-(2-oxopyrrolidin-1-yl)-N-[4-(trifluoromethyl)phenyl]-2,3-dihydroindole-1-carboxamide1228343: In vitro inhibition of full length human MGAT2 transfected in FreeStyle293 cells assessed as dioleoylglycerol by RapidFire/MS assayic500.0031uM
N-(2,4-difluorophenyl)-3,3-diethyl-2,5-dioxo-1,4-dihydro-1,4-benzodiazepine-7-sulfonamide745096: Inhibition of human recombinant MGAT2 expressed in insect cell membrane using 2-oleoyl-sn-glycerol and oleoyl coenzyme A as substrate after 40 mins by Ellmans assay based rapidfire LCMS analysisic500.0032uM
benzyl 5-[(2,4-difluorophenyl)sulfamoyl]-7-(2-oxoimidazolidin-1-yl)-2,3-dihydroindole-1-carboxylate1228343: In vitro inhibition of full length human MGAT2 transfected in FreeStyle293 cells assessed as dioleoylglycerol by RapidFire/MS assayic500.0034uM
N-(4-tert-butylphenyl)-5-[(2,4-difluorophenyl)sulfamoyl]-7-(2-oxopyrrolidin-1-yl)-2,3-dihydroindole-1-carboxamide1228343: In vitro inhibition of full length human MGAT2 transfected in FreeStyle293 cells assessed as dioleoylglycerol by RapidFire/MS assayic500.0036uM
N-[5-[(2,4-difluorophenyl)sulfamoyl]-1-(3-phenylpropyl)-2,3-dihydroindol-7-yl]acetamide1228343: In vitro inhibition of full length human MGAT2 transfected in FreeStyle293 cells assessed as dioleoylglycerol by RapidFire/MS assayic500.0037uM
N-[(1S)-1-[4-[[[(3S)-2,3-dihydro-[1,4]dioxino[2,3-b]pyridin-3-yl]methylamino]methyl]phenyl]-2,2,2-trifluoroethyl]methanesulfonamide1573548: Inhibition of recombinant human MGAT2 expressed in sf9 cells using 2-monooleoyl glycerol/[14C]-oleoyl CoA as substrate by microscintillation counting methodic500.0038uM
4-(4-methylphenyl)-6-oxo-N-phenyl-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamide1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0040uM
ethyl 3-[4-[[3-(2-cyclohexylsulfanyl-4-oxo-3-phenyl-7,8-dihydro-5H-pyrido[4,3-d]pyrimidine-6-carbonyl)azetidin-1-yl]methyl]phenyl]propanoate1573551: Inhibition of recombinant human MGAT2ic500.0040uM
3-ethyl-N-(4-methoxyphenyl)-3-methyl-2,5-dioxo-1,4-dihydro-1,4-benzodiazepine-7-sulfonamide745096: Inhibition of human recombinant MGAT2 expressed in insect cell membrane using 2-oleoyl-sn-glycerol and oleoyl coenzyme A as substrate after 40 mins by Ellmans assay based rapidfire LCMS analysisic500.0040uM
(2S)-4-(4-methylphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-N-[4-(trifluoromethoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamide1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0042uM
(2S)-4-(4-methylphenyl)-5-(tetrazol-1-yl)-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-6-one2015133: Inhibition of human MGAT2 using 2-oleoylglycerol and oleoyl-coenzyme A as substrate by LC-MS analysisic500.0045uM
(2S)-4-[1-(cyclopropylmethyl)pyrazol-3-yl]-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-5-(5-oxo-1H-tetrazol-4-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-one2015133: Inhibition of human MGAT2 using 2-oleoylglycerol and oleoyl-coenzyme A as substrate by LC-MS analysisic500.0046uM
(2S)-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-4-(4-methylphenyl)-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-one1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0050uM
(2S)-N-(6-methoxy-3-pyridinyl)-4-(4-methylphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamide1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0050uM
(2S)-N-methyl-4-(4-methylphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamide1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0052uM
4-(4-ethoxyphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carbonitrile1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0053uM
(2S)-2-(4-butylsulfanylphenyl)-4-(4-methylphenyl)-5-(2H-tetrazol-5-yl)-2-(trifluoromethyl)-1,3-dihydropyridin-6-one1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0055uM
(2S)-4-(4-methylphenyl)-5-(2H-tetrazol-5-yl)-2-[4-(6,6,6-trifluorohexoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-6-one1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0061uM
(3S)-N-(2,4-difluorophenyl)-3-ethyl-3-methyl-2,5-dioxo-1,4-dihydro-1,4-benzodiazepine-7-sulfonamide1573551: Inhibition of recombinant human MGAT2ic500.0063uM
N-(2,4-difluorophenyl)-7-(2-oxopyrrolidin-1-yl)-1-(2-phenylethyl)-2,3-dihydroindole-5-sulfonamide1228343: In vitro inhibition of full length human MGAT2 transfected in FreeStyle293 cells assessed as dioleoylglycerol by RapidFire/MS assayic500.0067uM
N-(4-methoxyphenyl)-4-(4-methylphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamide1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0067uM
(2S)-2-[2-fluoro-4-(4,4,4-trifluorobutoxy)phenyl]-4-(4-methylphenyl)-6-oxo-N-[4-(2H-tetrazol-5-yl)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamide1573551: Inhibition of recombinant human MGAT2ic500.0070uM
(2S)-N-(6-methoxypyridazin-3-yl)-4-(4-methylphenyl)-6-oxo-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridine-5-carboxamide1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0071uM
(2S)-4-(4-methylphenyl)-5-(2H-tetrazol-5-yl)-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-6-one1785280: Inhibition of human recombinant MGAT2 expressed in Sf9 cell membrane using 2-monooleglycerol and [H3]-oleoyl-CoA as substrates incubated for 20 mins by scintillation proximity assayic500.0071uM
4-(4-methylphenyl)-5-(2H-tetrazol-5-yl)-2-[4-(4,4,4-trifluorobutoxy)phenyl]-2-(trifluoromethyl)-1,3-dihydropyridin-6-one2015133: Inhibition of human MGAT2 using 2-oleoylglycerol and oleoyl-coenzyme A as substrate by LC-MS analysisic500.0071uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Cadmiumincreases expression, decreases expression, increases abundance2
Nickelincreases expression2
Valproic Aciddecreases methylation, increases expression2
Cyclosporinedecreases expression, increases expression2
Cadmium Chloridedecreases expression, increases abundance, increases expression2
aristolochic acid Iincreases expression1
GSK-J4decreases expression1
7-(4,6-di-tert-butylpyrimidin-2-yl)-3-(4-trifluoromethoxyphenyl)-5,6,7,8-tetrahydro(1,2,4)triazolo(4,3-a)pyrazinedecreases activity1
bisphenol Faffects cotreatment, increases expression1
alpha phellandrenedecreases expression1
triphenyl phosphateaffects expression1
bisphenol Adecreases expression1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
isobutyl alcoholaffects cotreatment, decreases expression, increases abundance1
2,3-dimethoxy-1,4-naphthoquinonedecreases expression1
di-n-butylphosphoric acidaffects expression1
Lycopeneincreases expression1
Ethanolaffects cotreatment, decreases expression, increases abundance1
Antimonydecreases expression1
Antimony Potassium Tartratedecreases expression1
Atrazineincreases expression1
Chromiumdecreases expression1
Cisplatindecreases expression, decreases reaction1
Dexamethasoneaffects cotreatment, increases expression1
Dimethylnitrosaminedecreases expression1
Fluorouracilaffects response to substance1
Gasolineaffects cotreatment, decreases expression, increases abundance1
Indomethacinaffects cotreatment, increases expression1
Mercurydecreases expression1
Methyl Methanesulfonatedecreases expression1

ChEMBL screening assays

32 unique, capped per target: 32 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL2329320BindingInhibition of human GNT2 GalNAc-transferase using GnMan3-octyl as substrate at 0.5 mM after 1 hr in presence of phosphatidylcholineSelective inhibition of glycosyltransferases by bivalent imidazolium salts. — Bioorg Med Chem

Cellosaurus cell lines

8 cell lines: 6 spontaneously immortalized cell line, 2 cancer cell line

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

CellosaurusNameCategorySex
CVCL_C3MDSfSWT-4Spontaneously immortalized cell lineFemale
CVCL_C3MESfSWT-5Spontaneously immortalized cell lineFemale
CVCL_C3MFSfSWT-6Spontaneously immortalized cell lineFemale
CVCL_C3MGSfSWT-7Spontaneously immortalized cell lineFemale
CVCL_SY25HAP1 MGAT2 (-) 1Cancer cell lineMale
CVCL_SY26HAP1 MGAT2 (-) 2Cancer cell lineMale
CVCL_Z366SfSWT-1Spontaneously immortalized cell lineFemale
CVCL_Z367SfSWT-3Spontaneously immortalized cell lineFemale

Clinical trials (associated diseases)

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