GAA

Summary

GAA (alpha glucosidase, HGNC:4065) is a protein-coding gene on chromosome 17q25.3, encoding Lysosomal alpha-glucosidase (P10253). Essential for the degradation of glycogen in lysosomes.

This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe’s disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 2548 — RefSeq curated summary.

At a glance

• Gene–disease (curated): glycogen storage disease II (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 3,199 total — 368 pathogenic, 324 likely-pathogenic
• Phenotypes (HPO): 72
• Druggable target: yes — 112 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_000152

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4065
Approved symbol	GAA
Name	alpha glucosidase
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171298
Ensembl biotype	protein_coding
OMIM	606800
Entrez	2548

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 14 protein_coding, 3 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000302262, ENST00000390015, ENST00000570716, ENST00000570803, ENST00000572080, ENST00000572803, ENST00000573556, ENST00000574376, ENST00000577106, ENST00000714054, ENST00000714055, ENST00000714056, ENST00000714057, ENST00000714058, ENST00000714061, ENST00000714062, ENST00000933404, ENST00000933405, ENST00000933406, ENST00000945487, ENST00000945488

RefSeq mRNA: 5 — MANE Select: NM_000152 NM_000152, NM_001079803, NM_001079804, NM_001406741, NM_001406742

CCDS: CCDS32760

Canonical transcript exons

ENST00000302262 — 20 exons

Exon	Start	End
ENSE00001164152	80105749	80105894
ENSE00001291648	80104555	80105132
ENSE00002649717	80107557	80107722
ENSE00004011642	80108697	80108828
ENSE00004011644	80116968	80117109
ENSE00004011645	80118653	80118805
ENSE00004011647	80118193	80118357
ENSE00004011649	80110727	80110840
ENSE00004011650	80107800	80107896
ENSE00004011653	80112578	80112711
ENSE00004011654	80117600	80117749
ENSE00004011655	80109945	80110055
ENSE00004011656	80112876	80113027
ENSE00004011657	80113218	80113366
ENSE00004011658	80110941	80111025
ENSE00004011659	80108290	80108409
ENSE00004011661	80108489	80108607
ENSE00004011663	80111983	80112100
ENSE00004022684	80119272	80119881
ENSE00004022685	80101581	80101890

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 97.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.1776 / max 394.8464, expressed in 1807 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163207	31.6608	1797
163206	13.5547	1742
163211	0.8573	431
163213	0.4903	254
163212	0.2162	89
163208	0.2133	100
163210	0.1048	27
163209	0.0803	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	97.32	gold quality
left testis	UBERON:0004533	97.21	gold quality
right testis	UBERON:0004534	97.13	gold quality
right uterine tube	UBERON:0001302	96.93	gold quality
monocyte	CL:0000576	96.46	gold quality
mononuclear cell	CL:0000842	96.05	gold quality
leukocyte	CL:0000738	96.00	gold quality
metanephros cortex	UBERON:0010533	96.00	gold quality
adenohypophysis	UBERON:0002196	95.89	gold quality
right lung	UBERON:0002167	95.60	gold quality
spleen	UBERON:0002106	95.33	gold quality
pituitary gland	UBERON:0000007	95.25	gold quality
upper lobe of left lung	UBERON:0008952	95.13	gold quality
apex of heart	UBERON:0002098	95.06	gold quality
mucosa of stomach	UBERON:0001199	94.85	gold quality
stromal cell of endometrium	CL:0002255	94.80	gold quality
testis	UBERON:0000473	94.54	gold quality
right frontal lobe	UBERON:0002810	94.52	gold quality
right lobe of thyroid gland	UBERON:0001119	94.51	gold quality
upper lobe of lung	UBERON:0008948	94.44	gold quality
right adrenal gland cortex	UBERON:0035827	94.41	gold quality
right coronary artery	UBERON:0001625	94.33	gold quality
minor salivary gland	UBERON:0001830	94.33	gold quality
tibial nerve	UBERON:0001323	94.32	gold quality
left uterine tube	UBERON:0001303	94.19	gold quality
right lobe of liver	UBERON:0001114	94.12	gold quality
right adrenal gland	UBERON:0001233	94.09	gold quality
left lobe of thyroid gland	UBERON:0001120	94.08	gold quality
ascending aorta	UBERON:0001496	94.01	gold quality
thoracic aorta	UBERON:0001515	93.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	18.47

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HES1, YY1

miRNA regulators (miRDB)

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

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-4325	99.49	72.20	1342
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-3960	99.41	66.11	96
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-8072	98.27	66.24	83
HSA-MIR-7703	97.64	67.00	965
HSA-MIR-2276-5P	96.27	65.85	937

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II (PMID:11854868)
• novel target of the Notch-1/Hes-1 signaling pathway (PMID:12065598)
• 2 novel mutations of the acid alpha-glucosidase gene, P361L and R437C, were found in a juvenile-onset glycogen storage disease type II (GSDII) 16-year-old Chinese patient. The asymptomatic 13-year-old brother of the proband is also compound heterozygote (PMID:12601120)
• mutations in the alpha glucosidase gene is associated with infantile onset glycogen storage disease type II. (PMID:12923862)
• Childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. (PMID:15145338)
• data show that the mature forms of GAA characterized by polypeptides of 76 or 70 kDa are in fact larger molecular mass multicomponent enzyme complexes; peptides released during proteolytic processing remained tightly associated with the major species (PMID:15520017)
• 2 novel mutations (Ala237Val and Gly293Arg) were foundin the acid alpha-glucosidase gene in a Pompe disease patient with vascular involvement. (PMID:15668445)
• Acid-alpha-glucosidase activity and specific activity, and lysosomal glycogen content are useful predictors of age of onset in Pompe disease (PMID:15993875)
• Complete molecular analysis of the GAA gene of patients with late onset glycogen storage disease type II shows missense mutations and splicing mutations. (PMID:16917947)
• From 14 Argentinean patients diagnosed with either infantile or late-onset disease, we identified 14 distinct mutations in the acid alpha-glucosidase (GAA) gene including nine novel variants. (PMID:17056254)
• Two new missense mutations (p.266Pro>Ser and p.439Met>Lys) were new missense mutations causing late onset GSD II. (PMID:17092519)
• Patients with the same c.-32-13T–>G haplotype (c.q. GAA genotype) may manifest first symptoms at different ages, indicating that secondary factors may substantially influence the clinical course of patients with this mutation. (PMID:17210890)
• demonstrated a significant increase of GAA activity (1.3-7.5-fold) after imino sugar treatment in fibroblasts from patients carrying the mutations L552P (three patients) and G549R (one patient) (PMID:17213836)
• N-glycans of recombinant human GAA were expressed in the milk of transgenic rabbits. (PMID:17293352)
• The role of autophagy in Pompe disease was examined by analyzing single muscle fibers. (PMID:17592248)
• Mutations in glucosidase alpha is asspciated with glycogen storage disease type II (PMID:17616415)
• Despite a common genotype, patients present with a wide variability in residual enzyme activity, age of appearance of clinical signs and rate of disease progression suggesting other factors in Pompe disease. (PMID:17915575)
• In Glycogen Storage Disease Type II suggesting a loss alpha-Glucosidase of function rather than abnormal protein processing and expression (PMID:18285536)
• Polymorphism in acid alpha-glucosidase is associated with Pompe disease (PMID:18301443)
• The clinical heterogeneity of Pompe disease is explained by the kind and severity of mutations in the GAA gene with 107 sequence variations (95 being novel) discovered; but secondary factors, as yet unknown, have a substantial impact. (PMID:18425781)
• Study characterized 29 unrelated Itatlian infant patients presenting with the severe form of Pompe disease and identified 26 pathogenic mutations divided over 28 different genotypes in GAA. (PMID:18429042)
• We performed a molecular genetic study on 29 patients with infantile-onset glycogen-storage disease type II (GSDII), 6 with juvenile-onset GSDII and one carrier for GSDII. Seventeen different mutations were identified among them; 8 were novel mutations. (PMID:18458862)
• Report genetic testing to indentify GAA mutations in German patients with late-onset glycogen storage disease type II. (PMID:18607768)
• Mutation in alpha-glucosidases results in processing/transport defect in Pompe disease. (PMID:19343043)
• c.[1726A; 2065A] homozygosity among apparently healthy individuals complicates newborn screening for glycogen storage disease type II in Japan and one or more pathogenic mutations are associated with the c.[1726A; 2065A] allele. (PMID:19362502)
• Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing (PMID:19609281)
• Data show that p.R1147G missense mutation impaired glucosidase activity. (PMID:19834502)
• The enzymatic screening of Pompe disease can be justified in patients with myopathies of unknown etiology in this report of a Mexican patient with late-onset glycogen-storage disease type 2. (PMID:20350966)
• Mutation analysis of the GAA gene revealed the p.D645E in all patients with Pompe disease, suggesting it as the most common mutation in the Thai population. (PMID:21039225)
• No common mutation is found in association with low levels of acid alpha-glucosidase activity in late-onset Pompe disease; most patients produce unprocessed forms of GAA protein compared with patients who have higher GAA activity. (PMID:21484825)
• we define a critical role for endoplasmic reticulum stress in the activation of autophagy due to the 546G>T acid alpha glucosidase mutation (PMID:21982629)
• Study gave an update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. (PMID:22644586)
• Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients (PMID:22658377)
• Adult patients with alpha-glucosidase mutations other than c.-32-13 T>G can have very low alpha-glucosidase activity in fibroblasts but express higher activity in muscle and store less glycogen in muscle than patients with infantile Pompe disease. (PMID:23000108)
• Mutations in the GAA gene is associated with glycogen storage disease type II. (PMID:23884227)
• Data shows the largest informative family with late-onset Pompe disease described in the literature showing a peculiar complex set of mutations of GAA gene that may partially elucidate the clinical heterogeneity of this family. (PMID:24107549)
• This study demonstrates that the c.-32-13T>G mutation of GAA gene abrogates the binding of the splicing factor U2AF65 to the polypyrimidine tract of exon 2 and that several splicing factors affect exon 2 inclusion. (PMID:24150945)
• The phenotype LO-GSDII with GAA mutation in the North of Italy seems not significantly different from other LO-GSDII populations in Europe or the USA. (PMID:24158270)
• 7 of 27 in: Gene. 2014 Mar 1;537(1) Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease. (PMID:24384324)
• study describes two unrelated cases affected with classical early-onset Pompe disease, both pertaining to the same small Mexican region, with the same novel homozygous frameshift mutation at gene GAA (c.1987delC) (PMID:24399866)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	gaa	ENSDARG00000090714
danio_rerio	GAA	ENSDARG00000116493
mus_musculus	Gaa	ENSMUSG00000025579
rattus_norvegicus	Gaa	ENSRNOG00000047656
drosophila_melanogaster	GCS2alpha	FBGN0027588
drosophila_melanogaster	tobi	FBGN0261575
caenorhabditis_elegans		WBGENE00018682
caenorhabditis_elegans		WBGENE00019895

Paralogs (6): GANAB (ENSG00000089597), SI (ENSG00000090402), MYORG (ENSG00000164976), GANC (ENSG00000214013), MGAM (ENSG00000257335), MGAM2 (ENSG00000257743)

Protein

Protein identifiers

Lysosomal alpha-glucosidase — P10253 (reviewed: P10253)

Alternative names: Acid maltase, Aglucosidase alfa

All UniProt accessions (9): A0AAQ5BHD3, A0AAQ5BHE1, A0AAQ5BHE2, A0AAQ5BHE5, A0AAQ5BHG9, P10253, I3L0S5, I3L2V9, I3L3L3

UniProt curated annotations — full annotation on UniProt →

Function. Essential for the degradation of glycogen in lysosomes. Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans.

Subcellular location. Lysosome. Lysosome membrane.

Post-translational modifications. The different forms of acid glucosidase are obtained by proteolytic processing. Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor.

Disease relevance. Pompe disease, infantile-onset (IOPD) [MIM:232300] An early-onset form of Pompe disease, an autosomal recessive lysosomal storage disease characterized by lysosomal alpha-glucosidase deficiency, a broad clinical spectrum and age at onset ranging from infancy to adulthood. The classic early-onset form of IOPD presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. A milder infantile form manifests as progressive muscular disorder of childhood and patients have better prognosis. The disease is caused by variants affecting the gene represented in this entry. Pompe disease, late-onset (LOPD) [MIM:621314] A late-onset form of Pompe disease, an autosomal recessive lysosomal storage disease characterized by lysosomal alpha-glucosidase deficiency, a broad clinical spectrum and age at onset ranging from infancy to adulthood. LOPD includes juvenile and adult forms and manifests as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. The disease is caused by variants affecting the gene represented in this entry.

Polymorphism. There are three common alleles of GAA: GAA1, GAA2 and GAA4. The sequence shown is that of allele GAA1, which is the most common. Alleles GAA2 and GAA4 are much rarer.

Similarity. Belongs to the glycosyl hydrolase 31 family.

RefSeq proteins (5): NP_000143, NP_001073271, NP_001073272, NP_001393670, NP_001393671 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000322	Glyco_hydro_31_TIM	Domain
IPR000519	P_trefoil_dom	Domain
IPR011013	Gal_mutarotase_sf_dom	Homologous_superfamily
IPR013780	Glyco_hydro_b	Homologous_superfamily
IPR017853	GH_hydrolase_sf	Homologous_superfamily
IPR017957	P_trefoil_CS	Conserved_site
IPR025887	Glyco_hydro_31_N_dom	Domain
IPR030458	Glyco_hydro_31_AS	Active_site
IPR030459	Glyco_hydro_31_CS	Conserved_site
IPR044913	P_trefoil_dom_sf	Homologous_superfamily
IPR048395	Glyco_hydro_31_C	Domain

Pfam: PF00088, PF01055, PF13802, PF21365

Enzyme classification (BRENDA):

• EC 3.2.1.20 — alpha-glucosidase (BRENDA: 138 organisms, 507 substrates, 642 inhibitors, 449 Km, 159 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
MALTOSE	0.135–100	94
MALTOTRIOSE	0.18–26.7	39
ISOMALTOSE	0.455–56	27
MALTOTETRAOSE	0.1–25	25
MALTOPENTAOSE	0.14–63	22
4-NITROPHENYL ALPHA-D-GLUCOPYRANOSIDE	0.23–13	21
MALTOHEPTAOSE	0.38–76	15
MALTOHEXAOSE	0.35–63	15
SUCROSE	0.32–71.4	14
KOJIBIOSE	0.34–67	13
NIGEROSE	0.14–55	13
P-NITROPHENYL-ALPHA-D-GLUCOSIDE	0.21–8.6	11
PHENYL ALPHA-MALTOSIDE	0.41–14.3	10
P-NITROPHENYL-ALPHA-D-GLUCOPYRANOSIDE	0.23–11.11	9
PHENYL ALPHA-GLUCOSIDE	0.34–7.3	9

UniProt features (279 total): sequence variant 165, strand 52, helix 26, turn 9, glycosylation site 7, disulfide bond 5, binding site 4, chain 3, mutagenesis site 2, active site 2, signal peptide 1, propeptide 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

19 structures.

PDB	Method	Resolution (Å)
8CB1	X-RAY DIFFRACTION	1.75
9GTW	X-RAY DIFFRACTION	1.75
9GSV	X-RAY DIFFRACTION	1.8
9GTN	X-RAY DIFFRACTION	1.8
7P32	X-RAY DIFFRACTION	1.82
5NN4	X-RAY DIFFRACTION	1.83
7P2Z	X-RAY DIFFRACTION	1.85
5NN3	X-RAY DIFFRACTION	1.9
8CB6	X-RAY DIFFRACTION	1.9
9GSW	X-RAY DIFFRACTION	1.95
5KZW	X-RAY DIFFRACTION	2
5KZX	X-RAY DIFFRACTION	2
5NN5	X-RAY DIFFRACTION	2
5NN6	X-RAY DIFFRACTION	2
9GTL	X-RAY DIFFRACTION	2
9GTD	X-RAY DIFFRACTION	2.25
9GTT	X-RAY DIFFRACTION	2.35
5NN8	X-RAY DIFFRACTION	2.45
9GTC	X-RAY DIFFRACTION	2.58

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P10253-F1	92.32	0.88

Functional residue map

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

Catalytic / active sites (2): 518 (nucleophile); 521

Ligand- & substrate-binding residues (4): 600; 616; 674; 404

Disulfide bonds (5): 82–109, 92–108, 103–127, 533–558, 647–658

Glycosylation sites (7): 140, 233, 390, 470, 652, 882, 925

Mutagenesis-validated functional residues (2):

Position	Phenotype
516	loss of activity.
518	loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-5357609	Glycogen storage disease type II (GAA)
R-HSA-6798695	Neutrophil degranulation
R-HSA-70221	Glycogen breakdown (glycogenolysis)
R-HSA-1430728	Metabolism
R-HSA-1643685	Disease
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-3229121	Glycogen storage diseases
R-HSA-5663084	Diseases of carbohydrate metabolism
R-HSA-5668914	Diseases of metabolism
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives
R-HSA-8982491	Glycogen metabolism

MSigDB gene sets: 356 (showing top): GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, REACTOME_INNATE_IMMUNE_SYSTEM, MOOTHA_GLYCOGEN_METABOLISM, GOBP_BEHAVIOR, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, MODULE_151, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, KEGG_LYSOSOME, GOBP_RESPIRATORY_SYSTEM_PROCESS, GOBP_ARTERY_DEVELOPMENT, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT

GO Biological Process (21): maltose metabolic process (GO:0000023), regulation of the force of heart contraction (GO:0002026), diaphragm contraction (GO:0002086), heart morphogenesis (GO:0003007), glycogen catabolic process (GO:0005980), sucrose metabolic process (GO:0005985), glucose metabolic process (GO:0006006), lysosome organization (GO:0007040), locomotory behavior (GO:0007626), tissue development (GO:0009888), aorta development (GO:0035904), obsolete vacuolar sequestering (GO:0043181), muscle cell cellular homeostasis (GO:0046716), neuromuscular process controlling posture (GO:0050884), neuromuscular process controlling balance (GO:0050885), cardiac muscle contraction (GO:0060048), glycophagy (GO:0061723), carbohydrate metabolic process (GO:0005975), glycogen metabolic process (GO:0005977), disaccharide metabolic process (GO:0005984), striated muscle contraction (GO:0006941)

GO Molecular Function (8): alpha-1,4-glucosidase activity (GO:0004558), carbohydrate binding (GO:0030246), glucan 1,6-alpha-glucosidase activity (GO:0043896), alpha-glucosidase activity (GO:0090599), catalytic activity (GO:0003824), hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798)

GO Cellular Component (11): lysosome (GO:0005764), lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), membrane (GO:0016020), azurophil granule membrane (GO:0035577), lysosomal lumen (GO:0043202), extracellular exosome (GO:0070062), tertiary granule membrane (GO:0070821), ficolin-1-rich granule membrane (GO:0101003), autolysosome lumen (GO:0120282), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Glycogen storage diseases	1
Innate Immune System	1
Glycogen metabolism	1
Immune System	1
Diseases of carbohydrate metabolism	1
Diseases of metabolism	1
Disease	1
Metabolism	1
Metabolism of carbohydrates and carbohydrate derivatives	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
secretory granule membrane	3
disaccharide metabolic process	2
musculoskeletal movement	2
neuromuscular process	2
alpha-glucosidase activity	2
lysosome	2
cellular anatomical structure	2
vacuolar lumen	2
tertiary granule	2
regulation of heart contraction	1
regulation of biological quality	1
involuntary skeletal muscle contraction	1
respiratory system process	1
heart development	1
animal organ morphogenesis	1
glycogen metabolic process	1
glucan catabolic process	1
hexose metabolic process	1
lytic vacuole organization	1
behavior	1
anatomical structure development	1
artery development	1
cellular homeostasis	1
striated muscle contraction	1
heart contraction	1
glycogen catabolic process	1
macroautophagy	1
primary metabolic process	1
energy reserve metabolic process	1
glucan metabolic process	1
oligosaccharide metabolic process	1
binding	1
glucosidase activity	1
molecular_function	1
hydrolase activity, acting on glycosyl bonds	1
catalytic activity	1
hydrolase activity	1
lytic vacuole	1
lytic vacuole membrane	1
membrane	1

Protein interactions and networks

STRING

1936 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GAA	HES1	Q14469	580
GAA	AMY2A	P04746	530
GAA	AGL	P35573	490
GAA	GBE1	Q04446	479
GAA	PYGM	P11217	478
GAA	PYGL	P06737	474
GAA	GLA	P06280	457
GAA	PYGB	P11216	456
GAA	GYG1	P46976	452
GAA	CPAMD8	Q8IZJ3	448
GAA	GBA1	P04062	442
GAA	SI	P14410	431
GAA	LAMP2	P13473	431
GAA	MGAM	O43451	420
GAA	EPM2A	O95278	392

IntAct

43 interactions, top by confidence:

A	B	Type	Score
POGLUT1	ZZEF1	psi-mi:“MI:0914”(association)	0.530
GAA	B3GAT3	psi-mi:“MI:0914”(association)	0.530
POGLUT1	CLGN	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
GAA	CLGN	psi-mi:“MI:0914”(association)	0.530
SLC25A6	GAA	psi-mi:“MI:0915”(physical association)	0.400
	GNAT3	psi-mi:“MI:0915”(physical association)	0.400
GAA	ompA	psi-mi:“MI:0915”(physical association)	0.370
GAA	STAT2	psi-mi:“MI:0915”(physical association)	0.370
GAA	EP300	psi-mi:“MI:0915”(physical association)	0.370
GAA	HIVEP1	psi-mi:“MI:0915”(physical association)	0.370
NUMBL	GAA	psi-mi:“MI:0915”(physical association)	0.370
GAA		psi-mi:“MI:0915”(physical association)	0.370
FOXI2	DDX39A	psi-mi:“MI:0914”(association)	0.350
GALNT7	GAA	psi-mi:“MI:0914”(association)	0.350
PDLIM7	CRYBG2	psi-mi:“MI:0914”(association)	0.350
SH2D3C	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
	VPS37C	psi-mi:“MI:0914”(association)	0.350
HLA-A	AIP	psi-mi:“MI:0914”(association)	0.350
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
DHFR2	MANBA	psi-mi:“MI:0914”(association)	0.350
GAA	ENTPD6	psi-mi:“MI:0914”(association)	0.350
HLA-C	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CRLF1	MANBA	psi-mi:“MI:0914”(association)	0.350
CNTNAP3	ADAM10	psi-mi:“MI:0914”(association)	0.350
GAA	ADAM10	psi-mi:“MI:0914”(association)	0.350
IGF2R	MANBA	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
DNAJC30	UBA6	psi-mi:“MI:0914”(association)	0.350
FBXO6	TMEM131L	psi-mi:“MI:0914”(association)	0.350

BioGRID (137): ESD (Co-fractionation), GAA (Co-fractionation), GAA (Co-fractionation), GAA (Co-fractionation), GAA (Co-fractionation), GAA (Co-fractionation), GAA (Co-fractionation), GAA (Co-fractionation), GOT1 (Co-fractionation), PMPCA (Co-fractionation), GAA (Affinity Capture-MS), GAA (Affinity Capture-MS), LRRC24 (Affinity Capture-MS), DHFRL1 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS)

ESM2 similar proteins: A0JMP0, A4IG42, A5PJN5, A6QLU7, A6QQ07, F1N2K1, O00462, O18835, O43280, O77695, O95479, O97524, P08236, P10253, P12265, P19813, P70699, P82450, Q3U4H6, Q4FAT7, Q4FZV0, Q5E985, Q5FVF9, Q5R5N6, Q5R7A9, Q5R8R3, Q5RFU0, Q5XHI4, Q641Z7, Q6P6V7, Q6P7A9, Q6QR59, Q6RHW4, Q76HN1, Q865R1, Q8BFW6, Q8BNE1, Q8BP56, Q8C0L6, Q8CFX1

Diamond homologs: A1CNK4, A1D1E6, B0XNL6, B8MZ41, D4B0X3, F4J6T7, O00906, O04893, O04931, O43451, O62653, O74254, P07768, P10253, P14410, P22861, P23739, P29064, P56526, P70699, Q09901, Q0CMA7, Q12558, Q2M2H8, Q2UQV7, Q43763, Q4WRH9, Q5AWI5, Q5R7A9, Q653V7, Q6P7A9, Q92442, Q9C0Y4, Q9MYM4, Q9S7Y7, Q9URX4, P19965, Q9P999, Q8RQU9, Q69ZQ1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TFE3	“up-regulates quantity by expression”	GAA	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

3199 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	368
Likely pathogenic	324
Uncertain significance	1003
Likely benign	1113
Benign	87

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1002225	NM_000152.5(GAA):c.1844G>T (p.Gly615Val)	Pathogenic
1065143	NM_000152.5(GAA):c.1551+1G>A	Pathogenic
1068509	NM_000152.5(GAA):c.1336dup (p.Ile446fs)	Pathogenic
1068640	NM_000152.5(GAA):c.340_341insT (p.Lys114fs)	Pathogenic
1069100	NM_000152.5(GAA):c.1704dup (p.Tyr569fs)	Pathogenic
1070357	NM_000152.5(GAA):c.1987C>T (p.Gln663Ter)	Pathogenic
1070552	NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter)	Pathogenic
1072074	NC_000017.10:g.(?78091972)(78092176_?)del	Pathogenic
1072075	NC_000017.10:g.(?_78091652)_78092189del	Pathogenic
1072806	NM_000152.5(GAA):c.683dup (p.Arg229fs)	Pathogenic
1072906	NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)	Pathogenic
1073372	NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)	Pathogenic
1074160	NM_000152.5(GAA):c.199del (p.Asp67fs)	Pathogenic
1075601	NM_000152.5(GAA):c.2173del (p.Arg725fs)	Pathogenic
1076447	NM_000152.5(GAA):c.1308del (p.Arg437fs)	Pathogenic
1322949	NM_000152.5(GAA):c.2261dup (p.Val755fs)	Pathogenic
1322950	NM_000152.5(GAA):c.2431dup (p.Leu811fs)	Pathogenic
1322952	NM_000152.5(GAA):c.1494G>A (p.Trp498Ter)	Pathogenic
1322955	NM_000152.5(GAA):c.1846del (p.Asp616fs)	Pathogenic
1322956	NM_000152.5(GAA):c.2623C>T (p.Gln875Ter)	Pathogenic
1322958	NM_000152.5(GAA):c.2431del (p.Leu811fs)	Pathogenic
1322962	NM_000152.5(GAA):c.2466C>G (p.Tyr822Ter)	Pathogenic
1322963	NM_000152.5(GAA):c.309C>A (p.Cys103Ter)	Pathogenic
1322965	NM_000152.5(GAA):c.2055C>A (p.Tyr685Ter)	Pathogenic
1322967	NM_000152.5(GAA):c.2161G>T (p.Glu721Ter)	Pathogenic
1322969	NM_000152.5(GAA):c.3_4delinsTT (p.Met1_Gly2delinsIleTer)	Pathogenic
1322970	NM_000152.5(GAA):c.1559del (p.Asn520fs)	Pathogenic
1327499	NM_000152.5(GAA):c.1057del (p.Gln353fs)	Pathogenic
1327500	NM_000152.5(GAA):c.2385del (p.Glu795fs)	Pathogenic
1327501	NM_000152.5(GAA):c.971dup (p.Ser325fs)	Pathogenic

SpliceAI

3813 predictions. Top by Δscore:

Variant	Effect	Δscore
17:80105106:GAGAC:G	donor_gain	1.0000
17:80105745:CTA:C	acceptor_loss	1.0000
17:80105745:CTAGA:C	acceptor_gain	1.0000
17:80105746:TA:T	acceptor_loss	1.0000
17:80105746:TAG:T	acceptor_gain	1.0000
17:80105747:A:AG	acceptor_gain	1.0000
17:80105747:A:AT	acceptor_gain	1.0000
17:80105748:G:A	acceptor_gain	1.0000
17:80105748:G:GT	acceptor_gain	1.0000
17:80105748:GA:G	acceptor_gain	1.0000
17:80105748:GATC:G	acceptor_gain	1.0000
17:80105863:ATC:A	donor_gain	1.0000
17:80105890:GTGCT:G	donor_gain	1.0000
17:80105891:TGCT:T	donor_gain	1.0000
17:80105892:GCT:G	donor_gain	1.0000
17:80105892:GCTG:G	donor_gain	1.0000
17:80105894:TG:T	donor_loss	1.0000
17:80105895:G:GG	donor_gain	1.0000
17:80105896:TGAGT:T	donor_loss	1.0000
17:80105900:T:G	donor_gain	1.0000
17:80107689:G:GT	donor_gain	1.0000
17:80107792:T:G	acceptor_gain	1.0000
17:80107895:GG:G	donor_gain	1.0000
17:80107896:GG:G	donor_gain	1.0000
17:80107896:GGTAA:G	donor_loss	1.0000
17:80107897:G:GG	donor_gain	1.0000
17:80107897:GT:G	donor_loss	1.0000
17:80108688:T:TA	acceptor_gain	1.0000
17:80108689:G:A	acceptor_gain	1.0000
17:80108694:CA:C	acceptor_loss	1.0000

AlphaMissense

6192 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:80107699:T:A	W279R	0.995
17:80107699:T:C	W279R	0.995
17:80108322:T:A	W330R	0.995
17:80108322:T:C	W330R	0.995
17:80112968:T:A	W661R	0.995
17:80112968:T:C	W661R	0.995
17:80104893:T:A	C103S	0.994
17:80104894:G:C	C103S	0.994
17:80110949:C:A	N520K	0.994
17:80110949:C:G	N520K	0.994
17:80112932:T:C	F649L	0.994
17:80112934:C:A	F649L	0.994
17:80112934:C:G	F649L	0.994
17:80112970:G:C	W661C	0.994
17:80112970:G:T	W661C	0.994
17:80104965:T:A	C127S	0.993
17:80104966:G:C	C127S	0.993
17:80107884:A:C	S315R	0.993
17:80107886:C:A	S315R	0.993
17:80107886:C:G	S315R	0.993
17:80110748:T:C	F487L	0.993
17:80110750:C:A	F487L	0.993
17:80110750:C:G	F487L	0.993
17:80112686:G:C	W621C	0.993
17:80112686:G:T	W621C	0.993
17:80107818:G:T	G293W	0.992
17:80112018:T:A	C558S	0.992
17:80112019:G:A	C558Y	0.992
17:80112019:G:C	C558S	0.992
17:80112060:C:G	H572D	0.992

dbSNP variants (sampled 300 via entrez): RS1000237347 (17:80105572 G>A,C,T), RS1000263892 (17:80114737 T>C), RS1000920731 (17:80102724 C>A), RS1001018149 (17:80108815 A>C,T), RS1001091851 (17:80108998 C>G), RS1001268042 (17:80102999 C>T), RS1001312957 (17:80119740 C>T), RS1001452509 (17:80113495 C>A,G,T), RS1001458871 (17:80113270 C>A,T), RS1001474257 (17:80106051 C>A,T), RS1001495473 (17:80106295 A>T), RS1001580052 (17:80101601 G>A), RS1001679119 (17:80119515 G>A,C), RS1001717479 (17:80110277 C>G), RS1001784352 (17:80114826 C>G)

Disease associations

OMIM: gene MIM:606800 | disease phenotypes: MIM:621314, MIM:232200, MIM:232500, MIM:232900

GenCC curated gene-disease

Disease	Classification	Inheritance
glycogen storage disease II	Definitive	Autosomal recessive
glycogen storage disease due to acid maltase deficiency, infantile onset	Supportive	Autosomal recessive
glycogen storage disease due to acid maltase deficiency, late-onset	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
glycogen storage disease II	Definitive	AR

Mondo (15): glycogen storage disease II (MONDO:0009290), glycogen storage disease due to acid maltase deficiency, late-onset (MONDO:0018485), muscular dystrophy (MONDO:0020121), ventricular fibrillation (MONDO:0000190), disorder of glycogen metabolism (MONDO:0002412), hypertrophic cardiomyopathy (MONDO:0005045), dilated cardiomyopathy (MONDO:0005021), long QT syndrome (MONDO:0002442), cardiomyopathy (MONDO:0004994), myopathy (MONDO:0005336), glycogen storage disease due to glycogen branching enzyme deficiency (MONDO:0009292), metabolic myopathy (MONDO:0020123), glycoprotein storage disease (MONDO:0009296), glycogen storage disease due to glucose-6-phosphatase deficiency type IA (MONDO:0009287), glycogen storage disease due to acid maltase deficiency, infantile onset (MONDO:0017694)

Orphanet (12): Glycogen storage disease due to acid maltase deficiency (Orphanet:365), Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet:420429), Muscular dystrophy (Orphanet:98473), Glycogen storage disease (Orphanet:79201), Rare hypertrophic cardiomyopathy (Orphanet:217569), Dilated cardiomyopathy (Orphanet:217604), Rare cardiomyopathy (Orphanet:167848), Rare genetic deafness (Orphanet:96210), Glycogen storage disease due to glycogen branching enzyme deficiency (Orphanet:367), Metabolic myopathy (Orphanet:98486), Glycogen storage disease due to glucose-6-phosphatase deficiency (Orphanet:364), Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (Orphanet:79258)

HPO phenotypes

72 total (30 of 72 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000158	Macroglossia
HP:0000183	Tongue muscle weakness
HP:0000297	Facial hypotonia
HP:0000365	Hearing impairment
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001324	Muscle weakness
HP:0001508	Failure to thrive
HP:0001638	Cardiomyopathy
HP:0001639	Hypertrophic cardiomyopathy
HP:0001640	Cardiomegaly
HP:0001712	Left ventricular hypertrophy
HP:0001716	Wolff-Parkinson-White syndrome
HP:0001744	Splenomegaly
HP:0001790	Nonimmune hydrops fetalis
HP:0001945	Fever
HP:0002093	Respiratory insufficiency
HP:0002094	Dyspnea
HP:0002098	Respiratory distress
HP:0002138	Subarachnoid hemorrhage
HP:0002202	Pleural effusion
HP:0002205	Recurrent respiratory infections
HP:0002240	Hepatomegaly
HP:0002747	Respiratory insufficiency due to muscle weakness

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006585_2181	Blood protein levels	1.000000e-48
GCST90002400_236	Plateletcrit	1.000000e-15
GCST90002401_558	Platelet distribution width	7.000000e-15

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D006008	Glycogen Storage Disease	C16.320.565.202.449; C18.452.648.202.449
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
D009136	Muscular Dystrophies	C05.651.534.500; C10.668.491.175.500; C16.320.577
D014693	Ventricular Fibrillation	C14.280.067.922; C23.550.073.922
C565538	Glycoprotein Storage Disease (supp.)
C538655	Hepatorenal form of glycogen storage disease (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2608 (SINGLE PROTEIN), CHEMBL3833502 (PROTEIN FAMILY)

Molecules with ChEMBL bioactivity

112 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 196,541 (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
CHEMBL1018	DIENESTROL	4	5,607
CHEMBL1029	MIGLUSTAT	4	4,770
CHEMBL1034	DICLOFENAC SODIUM	4	45,460
CHEMBL1086	DIBUCAINE	4	17,231
CHEMBL1096	AMLEXANOX	4	4,195
CHEMBL110458	MIGALASTAT	4	430
CHEMBL1112	ARIPIPRAZOLE	4	24,205
CHEMBL1175	DULOXETINE	4	28,527
CHEMBL1200323	LABETALOL HYDROCHLORIDE	4	2,621
CHEMBL1200334	MORICIZINE HYDROCHLORIDE	4	1,471
CHEMBL1200339	PHENYLEPHRINE HYDROCHLORIDE	4	8,981
CHEMBL1200474	DEMECLOCYCLINE HYDROCHLORIDE	4	1,867
CHEMBL1200561	DOXAZOSIN MESYLATE	4	11,917
CHEMBL1200586	PRILOCAINE HYDROCHLORIDE	4	907
CHEMBL1200600	FLUOROMETHOLONE	4	24,094
CHEMBL1200895	PHENELZINE SULFATE	4	5,019
CHEMBL1200930	RABEPRAZOLE SODIUM	4	3,361
CHEMBL1200938	METHYSERGIDE MALEATE	4	4
CHEMBL1201038	ACRISORCIN	4	1,956
CHEMBL1201049	ECONAZOLE NITRATE	4	3,918
CHEMBL1201153	ISOETHARINE MESYLATE	4
CHEMBL1201165	QUINESTROL	4
CHEMBL1234	DEFEROXAMINE MESYLATE	4
CHEMBL1237135	MAPROTILINE HYDROCHLORIDE	4
CHEMBL1256958	EPINEPHRINE BITARTRATE	4
CHEMBL1314751	PROCHLORPERAZINE MALEATE	4
CHEMBL1513	IRBESARTAN	4
CHEMBL1517	OXYTETRACYCLINE	4
CHEMBL1557	DOPAMINE HYDROCHLORIDE	4
CHEMBL1558	PRAZOSIN HYDROCHLORIDE	4

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — 3.2.1.- Glycosidases

Most potent curated ligand interactions (4 total), top 4:

Ligand	Action	Affinity	Parameter
migalastat	Binding	7.4	pIC50
1-deoxynojirimycin	Inhibition	6.82	pKi
miglitol	Inhibition	6.46	pIC50
trilobatin	Inhibition	3.62	pIC50

Binding affinities (BindingDB)

2 measured of 4 human assays (4 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
(2R,3R,4R,5S)-1-[5-(Adamantan-1-ylmethoxy)-pentyl]-2-hydroxymethyl-piperidine-3,4,5-triol	IC50	400 nM
(2R,3R,4R,5S)-2-[2-(1-adamantyl)ethyl]-2-(hydroxymethyl)piperidine-3,4,5-triol	IC50	29500 nM	US-20230339856: NOVEL PHARMACOLOGICAL CHAPERONE COMPOUNDS OF HUMAN ACID ALPHA-GLUCOSIDASE AND THE THERAPEUTIC USE THEREOF

ChEMBL bioactivities

6100 potent at pChembl≥5 of 6100 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.33	Ki	4.7	nM	CHEMBL5028005
8.21	Ki	6.1	nM	CHEMBL5028265
7.99	IC50	10.3	nM	CHEMBL86772
7.72	Ki	19	nM	CHEMBL5029066
7.44	Potency	36.6	nM	DUVOGLUSTAT
7.43	Ki	37	nM	CHEMBL5027974
7.40	IC50	40	nM	CHEMBL498833
7.23	Ki	59	nM	DUVOGLUSTAT
7.23	Ki	59	nM	CHEMBL5028138
7.23	Ki	59	nM	CHEMBL75971
7.22	IC50	60	nM	DUVOGLUSTAT
7.19	Potency	65.1	nM	DUVOGLUSTAT
7.16	IC50	70	nM	CHEMBL4538427
7.16	IC50	70	nM	CHEMBL4574481
7.16	IC50	70	nM	CHEMBL4552230
7.16	IC50	70	nM	CHEMBL4451108
7.16	IC50	70	nM	CHEMBL4461780
7.16	IC50	70	nM	CHEMBL4466971
7.16	IC50	70	nM	CHEMBL4448033
7.16	IC50	70	nM	CHEMBL4448529
7.16	IC50	70	nM	CHEMBL4467305
7.16	IC50	70	nM	CHEMBL4461882
7.16	IC50	70	nM	CHEMBL4464119
7.16	IC50	70	nM	CHEMBL4449167
7.16	IC50	70	nM	CHEMBL4549137
7.16	IC50	70	nM	CHEMBL4468520
7.16	IC50	70	nM	CHEMBL4453742
7.16	IC50	70	nM	CHEMBL4547928
7.16	IC50	70	nM	CHEMBL4549180
7.16	IC50	70	nM	CHEMBL4551617
7.16	IC50	70	nM	CHEMBL4535608
7.16	IC50	70	nM	CHEMBL4459113
7.16	IC50	70	nM	CHEMBL4438224
7.16	IC50	70	nM	CHEMBL4468873
7.16	IC50	70	nM	CHEMBL4533762
7.16	IC50	70	nM	CHEMBL4513326
7.16	IC50	70	nM	CHEMBL4448264
7.16	IC50	70	nM	VOGLIBOSE
7.10	Potency	79.4	nM	CHEMBL1502798
7.09	IC50	82	nM	CHEMBL4854113
7.08	Potency	82.3	nM	MIGALASTAT
7.05	IC50	90	nM	CHEMBL4475313
7.05	IC50	90	nM	CHEMBL4531736
7.05	IC50	90	nM	CHEMBL4591646
7.05	IC50	90	nM	CHEMBL4516968
7.05	IC50	90	nM	CHEMBL4441658
7.05	IC50	90	nM	CHEMBL4589823
7.05	IC50	90	nM	CHEMBL4127059
7.05	IC50	90	nM	CHEMBL4469426
7.05	IC50	90	nM	CHEMBL4457539

PubChem BioAssay actives

471 with measured affinity, of 1475 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
(2R,3R,4R,5S)-2-heptyl-2-(hydroxymethyl)piperidine-3,4,5-triol	1819245: Inhibition of human GAA using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate preincubated for 45 min followed by substrate addition and measured after 30 min by fluorescence spectrophotometer analysis	ki	0.0047	uM
(2R,3R,4R,5S)-2-hexyl-2-(hydroxymethyl)piperidine-3,4,5-triol	1819245: Inhibition of human GAA using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate preincubated for 45 min followed by substrate addition and measured after 30 min by fluorescence spectrophotometer analysis	ki	0.0061	uM
(2R,3R,4R,5S)-2-(hydroxymethyl)-2-pentylpiperidine-3,4,5-triol	1819245: Inhibition of human GAA using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate preincubated for 45 min followed by substrate addition and measured after 30 min by fluorescence spectrophotometer analysis	ki	0.0190	uM
(2R,3R,4R,5S)-2-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol	1819245: Inhibition of human GAA using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate preincubated for 45 min followed by substrate addition and measured after 30 min by fluorescence spectrophotometer analysis	ki	0.0370	uM
(1R,2R,14R,17R,18R,21S,24R,25R,26R)-2,13,13,17,18-pentamethyl-24-prop-1-en-2-yl-11-azaheptacyclo[15.11.0.02,14.04,12.05,10.018,26.021,25]octacosa-4(12),5,7,9-tetraene-21-carboxylic acid	2005243: Inhibition of alpha glucosidase (unknown origin) measured after 60 mins	ic50	0.0400	uM
(2R,3R,4R,5S)-2-(hydroxymethyl)-2-propylpiperidine-3,4,5-triol	1819245: Inhibition of human GAA using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate preincubated for 45 min followed by substrate addition and measured after 30 min by fluorescence spectrophotometer analysis	ki	0.0590	uM
(2R,3R,4R,5S)-2-(hydroxymethyl)piperidine-3,4,5-triol	1819245: Inhibition of human GAA using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate preincubated for 45 min followed by substrate addition and measured after 30 min by fluorescence spectrophotometer analysis	ki	0.0590	uM
(2R,3R,4R,5S)-2-(hydroxymethyl)-1-methylpiperidine-3,4,5-triol	1819245: Inhibition of human GAA using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate preincubated for 45 min followed by substrate addition and measured after 30 min by fluorescence spectrophotometer analysis	ki	0.0590	uM
3-[4-[(2,4-dichlorophenyl)-[4-[[(2,4-dichlorophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(3-bromophenyl)-[4-[4-[[(3-bromophenyl)-[5-(2-oxochromen-3-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenoxy]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(2,4-dichlorophenyl)-[4-[4-[[(2,4-dichlorophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenyl]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-methylphenyl)-[4-[4-[[(4-methylphenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenyl]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-chlorophenyl)-[4-[[(4-chlorophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-nitrophenyl)-[4-[4-[[(4-nitrophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenyl]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(2,4-dichlorophenyl)-[4-[4-[[(2,4-dichlorophenyl)-[5-(2-oxochromen-3-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenoxy]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(3-bromophenyl)-[4-[[(3-bromophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(3-chlorophenyl)-[4-[4-[[(3-chlorophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenyl]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(3-methoxyphenyl)-[4-[4-[[(3-methoxyphenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenyl]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-chlorophenyl)-[4-[4-[[(4-chlorophenyl)-[5-(2-oxochromen-3-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenoxy]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(3-bromophenyl)-[4-[4-[[(3-bromophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenyl]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[[4-(dimethylamino)phenyl]-[4-[4-[[[4-(dimethylamino)phenyl]-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenyl]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-methylphenyl)-[4-[[(4-methylphenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-nitrophenyl)-[4-[4-[[(4-nitrophenyl)-[5-(2-oxochromen-3-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenoxy]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(3-methoxyphenyl)-[4-[[(3-methoxyphenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[[4-(dimethylamino)phenyl]-[4-[[[4-(dimethylamino)phenyl]-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(3-chlorophenyl)-[4-[[(3-chlorophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-bromophenyl)-[4-[4-[[(4-bromophenyl)-[5-(2-oxochromen-3-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenoxy]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-fluorophenyl)-[4-[[(4-fluorophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[[4-(dimethylamino)phenyl]-[4-[4-[[[4-(dimethylamino)phenyl]-[5-(2-oxochromen-3-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenoxy]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-methylphenyl)-[4-[4-[[(4-methylphenyl)-[5-(2-oxochromen-3-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenoxy]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-bromophenyl)-[4-[4-[[(4-bromophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenyl]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-nitrophenyl)-[4-[[(4-nitrophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
3-[4-[(4-chlorophenyl)-[4-[4-[[(4-chlorophenyl)-[5-(2-oxochromen-4-yl)-2-sulfanylidene-1,3,4-oxadiazol-3-yl]methyl]amino]phenyl]anilino]methyl]-5-sulfanylidene-1,3,4-oxadiazol-2-yl]chromen-2-one	1509489: Inhibition of alpha-glucosidase (unknown origin) using p-nitro phenyl glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0700	uM
(1S,2S,3R,4S,5S)-5-(1,3-dihydroxypropan-2-ylamino)-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	342811: Inhibition of maltase in human Caco-2 cell model system after 2 hrs	ic50	0.0700	uM
S-(5-methyl-1,3,4-thiadiazol-2-yl) 5-(3-fluorophenyl)furan-2-carbothioate	1951122: Inhibition of alpha glucosidase (unknown origin)	ic50	0.0820	uM
N-[(Z)-[(5Z)-5-[(4-fluorophenyl)methylidene]-3-(4-methylphenyl)-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
N-[(Z)-[(5Z)-5-[(4-fluorophenyl)methylidene]-3-(2-methylphenyl)-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
N-[(Z)-[(5Z)-5-[(4-fluorophenyl)methylidene]-3-(4-methoxyphenyl)-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
N-[(Z)-[(5Z)-5-[(4-fluorophenyl)methylidene]-3-(2-methoxyphenyl)-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
N-[(Z)-[(5Z)-5-[(4-fluorophenyl)methylidene]-3-(3-methoxyphenyl)-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
N-[(Z)-[(5Z)-3-(2-chlorophenyl)-5-[(4-fluorophenyl)methylidene]-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
N-[(Z)-[(5Z)-3-(4-chlorophenyl)-5-[(4-fluorophenyl)methylidene]-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
N-[(Z)-[(5Z)-3-(3,4-dimethylphenyl)-5-[(4-fluorophenyl)methylidene]-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
N-[(Z)-[(5Z)-3-(2,6-dimethylphenyl)-5-[(4-fluorophenyl)methylidene]-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
N-[(Z)-[(5Z)-3-(2,4-dimethylphenyl)-5-[(4-fluorophenyl)methylidene]-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
N-[(Z)-[(5Z)-3-(3,5-dimethylphenyl)-5-[(4-fluorophenyl)methylidene]-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
N-[(Z)-[(5Z)-5-[(4-fluorophenyl)methylidene]-3-(3-methylphenyl)-4-oxo-1,3-thiazolidin-2-ylidene]amino]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.0900	uM
(2R,3R,4R,5S)-1-heptyl-2-(hydroxymethyl)piperidine-3,4,5-triol	1819245: Inhibition of human GAA using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate preincubated for 45 min followed by substrate addition and measured after 30 min by fluorescence spectrophotometer analysis	ki	0.0950	uM
3-methyl-N-[4-methyl-3-(2,4,5-trichlorophenyl)-1,3-thiazol-2-ylidene]benzamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.1000	uM
N-[4-methyl-3-(2,4,5-trichlorophenyl)-1,3-thiazol-2-ylidene]-2-oxochromene-3-carboxamide	1509481: Inhibition of alpha-glucosidase (unknown origin) using p-nitrophenyl-alpha-d-glucopyranoside as substrate preincubated for 5 mins followed by substrate addition measured after 30 mins	ic50	0.1000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases expression, increases expression	4
sodium arsenite	decreases expression, increases abundance, affects expression, affects cotreatment, increases expression	3
methacrylaldehyde	increases abundance, affects cotreatment, increases expression	2
Acrolein	affects cotreatment, increases expression, increases abundance	2
Ozone	increases expression, increases abundance, affects cotreatment	2
Smoke	decreases expression	2
aristolochic acid I	increases expression	1
beauvericin	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
4-methylumbelliferyl glucoside	decreases reaction, increases metabolic processing	1
manganese chloride	decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, increases expression	1
coumarin	affects phosphorylation	1
epigallocatechin gallate	affects cotreatment, increases expression	1
4-hydroxy-equilenin	increases expression	1
yessotoxin	increases expression	1
azoxystrobin	decreases expression	1
enniatins	affects cotreatment, decreases expression	1
deguelin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
pyrimidifen	decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
pyrachlostrobin	decreases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
picoxystrobin	decreases expression	1
(+)-JQ1 compound	increases expression	1
MT19c compound	decreases expression	1

ChEMBL screening assays

280 unique, capped per target: 267 binding, 13 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1000915	Binding	Inhibition of alpha-glucosidase	Phenolic and triterpene glycosides from the stems of Ilex litseaefolia. — J Nat Prod
CHEMBL1614031	Functional	PUBCHEM_BIOASSAY: qHTS Assay for Activators of Human alpha-Glucosidase as a Potential Chaperone Treatment of Pompe Disease. (Class of assay: confirmatory) [Related pubchem assays: 1467, 2100, 2112, 1473, 1466 ]	PubChem BioAssay data set

Cellosaurus cell lines

94 cell lines: 44 transformed cell line, 23 induced pluripotent stem cell, 21 finite cell line, 4 cancer cell line, 2 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_0H81	GM11661	Finite cell line	Male
CVCL_0H82	GM20124	Finite cell line	Male
CVCL_0H83	ITPD-iPSC	Induced pluripotent stem cell	Male
CVCL_0H84	LOTPD-iPSC	Induced pluripotent stem cell	Male
CVCL_1K46	GM00248	Finite cell line	Male
CVCL_1K47	GM00338	Finite cell line	Male
CVCL_1K48	GM00443	Finite cell line	Male
CVCL_1K51	GM01464	Transformed cell line	Female
CVCL_1K54	GM01935	Finite cell line	Female
CVCL_1K55	GM03329	Finite cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00455195	PHASE4	COMPLETED	Late-Onset Treatment Study Extension Protocol
NCT00483379	PHASE4	COMPLETED	High Dose or High Dose Frequency Study of Alglucosidase Alfa
NCT00486889	PHASE4	COMPLETED	Growth and Development Study of Alglucosidase Alfa
NCT00701129	PHASE4	COMPLETED	An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease
NCT00701701	PHASE4	TERMINATED	Immune Tolerance Induction Study
NCT01288027	PHASE4	COMPLETED	Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
NCT01410890	PHASE4	COMPLETED	Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease
NCT01526785	PHASE4	TERMINATED	A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
NCT01597596	PHASE4	TERMINATED	A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease
NCT02405598	PHASE4	COMPLETED	Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease
NCT02405624	PHASE4	UNKNOWN	CPAP for Infantile Pompe Disease
NCT02525172	PHASE4	UNKNOWN	Immune Modulation Therapy for Pompe Disease
NCT03687333	PHASE4	COMPLETED	Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment
NCT05164055	PHASE4	ACTIVE_NOT_RECRUITING	Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)
NCT06575829	PHASE4	NOT_YET_RECRUITING	Treatment Frequency Reduction in Pompe Disease
NCT06666413	PHASE4	RECRUITING	China Post-approval Commitment (PAC) Study of Avalglucosidase Alfa in Participants With IOPD
NCT00158600	PHASE3	COMPLETED	A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease
NCT00268944	PHASE3	COMPLETED	Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support
NCT03729362	PHASE3	COMPLETED	A Study Comparing ATB200/AT2221 With Alglucosidase Alfa/Placebo in Adult Subjects With Late-onset Pompe Disease
NCT03911505	PHASE3	ACTIVE_NOT_RECRUITING	ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD
NCT04138277	PHASE3	COMPLETED	A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With Late-Onset Pompe Disease (LOPD)
NCT04910776	PHASE3	ACTIVE_NOT_RECRUITING	Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa
NCT00025896	PHASE2	COMPLETED	Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease
NCT00051935	PHASE2	COMPLETED	A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
NCT00250939	PHASE2	COMPLETED	A Study of rhGAA in Patients With Late-Onset Pompe Disease
NCT00688597	PHASE2	TERMINATED	Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease
NCT00763932	PHASE2	COMPLETED	Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies
NCT01380743	PHASE2	COMPLETED	Drug-drug Interaction Study
NCT01435772	PHASE2	TERMINATED	Extension Study for Patients Who Have Participated in a BMN 701 Study
NCT01656590	PHASE2	WITHDRAWN	High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease
NCT04094948	PHASE2	WITHDRAWN	Phase II Clinical Trial of Clenbuterol in Adult Patients With Pompe Disease
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