SI

Summary

SI (sucrase-isomaltase, HGNC:10856) is a protein-coding gene on chromosome 3q26.1, encoding Sucrase-isomaltase, intestinal (P14410). Plays an important role in the final stage of carbohydrate digestion.

This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.

Source: NCBI Gene 6476 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital sucrase-isomaltase deficiency (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 1,708 total — 71 pathogenic, 82 likely-pathogenic
• Phenotypes (HPO): 19
• Druggable target: yes — 9 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_001041

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10856
Approved symbol	SI
Name	sucrase-isomaltase
Location	3q26.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000090402
Ensembl biotype	protein_coding
OMIM	609845
Entrez	6476

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 1 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000264382, ENST00000463607, ENST00000476593

RefSeq mRNA: 1 — MANE Select: NM_001041 NM_001041

CCDS: CCDS3196

Canonical transcript exons

ENST00000264382 — 48 exons

Exon	Start	End
ENSE00000780125	165033395	165033444
ENSE00000968042	165036389	165036477
ENSE00000968043	165017970	165018066
ENSE00000968044	165017761	165017873
ENSE00000968045	165017548	165017673
ENSE00000968046	165015952	165016080
ENSE00000968047	165015123	165015233
ENSE00000999825	164987138	164987226
ENSE00000999828	164992313	164992397
ENSE00000999830	164983002	164983051
ENSE00000999831	164996738	164996772
ENSE00000999834	164991353	164991477
ENSE00000999836	164994257	164994405
ENSE00000999838	164992177	164992233
ENSE00000999840	165019602	165019770
ENSE00001074401	165032522	165032692
ENSE00001074402	164998540	164998673
ENSE00001074403	165023570	165023776
ENSE00001074404	164982243	164982410
ENSE00001074406	165009279	165009395
ENSE00001074416	164996535	164996651
ENSE00001074424	165021229	165021383
ENSE00001074427	165006816	165006954
ENSE00001074432	165030712	165030867
ENSE00001074436	165007911	165007998
ENSE00001074439	165012980	165013042
ENSE00001156230	164978898	164979430
ENSE00001340404	165037900	165038024
ENSE00001340406	165039078	165039134
ENSE00001340408	165039887	165039971
ENSE00001340409	165040940	165041094
ENSE00001340411	165043059	165043175
ENSE00001340413	165046841	165047012
ENSE00001340416	165049127	165049244
ENSE00001340419	165049791	165049875
ENSE00001340423	165055194	165055307
ENSE00001340426	165058963	165059082
ENSE00001340429	165059168	165059299
ENSE00001340432	165059902	165060027
ENSE00001340435	165062371	165062483
ENSE00001340436	165063442	165063541
ENSE00001340440	165065261	165065432
ENSE00001340441	165067340	165067491
ENSE00001340442	165068722	165068831
ENSE00001340446	165074531	165074667
ENSE00001340448	165075895	165076012
ENSE00003626978	165069078	165069195
ENSE00003848409	165078433	165078496

Expression profiles

Bgee: expression breadth broad, 66 present calls, max score 99.96.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.4623 / max 1113.6860, expressed in 14 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
45422	1.4573	14
45423	0.0050	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	99.96	gold quality
ileal mucosa	UBERON:0000331	99.02	gold quality
ileum	UBERON:0002116	98.92	silver quality
mucosa of sigmoid colon	UBERON:0004993	97.98	gold quality
colonic mucosa	UBERON:0000317	96.45	gold quality
duodenum	UBERON:0002114	96.02	gold quality
sperm	CL:0000019	93.06	gold quality
rectum	UBERON:0001052	92.85	gold quality
small intestine	UBERON:0002108	89.58	gold quality
small intestine Peyer’s patch	UBERON:0003454	89.52	gold quality
male germ cell	CL:0000015	89.34	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.17	gold quality
jejunum	UBERON:0002115	82.27	gold quality
colonic epithelium	UBERON:0000397	77.18	gold quality
mucosa of transverse colon	UBERON:0004991	75.61	gold quality
vermiform appendix	UBERON:0001154	74.29	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.76	gold quality
intestine	UBERON:0000160	70.61	gold quality
caecum	UBERON:0001153	70.10	gold quality
transverse colon	UBERON:0001157	66.19	gold quality
bone marrow cell	CL:0002092	65.39	silver quality
large intestine	UBERON:0000059	63.80	gold quality
colon	UBERON:0001155	62.42	gold quality
smooth muscle tissue	UBERON:0001135	53.35	gold quality
lower lobe of lung	UBERON:0008949	50.52	silver quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
quadriceps femoris	UBERON:0001377	49.60	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	1221.15
E-ANND-3	yes	17.60

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CDX1, CDX2, CUX1, EZH2, GATA4, HNF1A, HNF1B, ONECUT1, PBX1, PDX1, PIAS1

miRNA regulators (miRDB)

25 targeting SI, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-549A-3P	99.54	68.17	825
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-4686	98.77	66.87	964
HSA-MIR-548AO-5P	98.55	69.57	1362
HSA-MIR-548AX	98.55	69.58	1362
HSA-MIR-6873-5P	98.45	66.14	1417
HSA-MIR-532-5P	98.43	67.53	760
HSA-MIR-3691-3P	97.90	65.97	791
HSA-MIR-3674	97.01	68.86	1171
HSA-MIR-4633-5P	96.17	66.36	501

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 20)

• These results suggest that sucrase-isomaltase transcription might be unchanged or lower in maturity-onset diabetes of the young (MODY) type 3, but greater in MODY5. (PMID:15522234)
• phenylalanine cluster is required for shielding a folding determinant in the extracellular domain of SI; substitution of a Q by a P at residue 1098 of sucrase disrupts this determinant and elicits retention of SI(Q1098P) in ER and cis-Golgi (PMID:15944403)
• The sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency was analysed.In six out of the 11 patients the phenotype of CSID could be explained by compound heterozygosity. (PMID:16329100)
• analysis of a mutation which affects an epitope responsible for the apical targeting fidelity of sucrase-isomaltase in congenital sucrase-isomaltase deficiency (PMID:16543230)
• hepatocyte nuclear factor (HNF)-1alpha and HNF-1beta would contribute to constitutive expression of the SI gene in the differentiated state in Caco-2 cells (PMID:16802690)
• glucose regulation of sucrase-isomaltase gene expression was attenuated in HNF-1alphaT539fsdelC cells, but was well maintained in empty vector & HNF-1betaR177X cells.Results suggest that HNF-1alpha participates in glucose regulation of SI gene expression. (PMID:17194452)
• The effects of mutations in the sucrase domain of SIC1229Y and SIF1745C indicate the importance of a direct interaction between isomaltase and sucrose and the role of sucrose as an intermolecular chaperone in the intracellular transport of SI (PMID:19121318)
• Core2 O-glycan structure is essential for expression of SI and DDP-IV during intestinal cell differentiation. (PMID:20841351)
• investigation of EIS (enzyme-inhibitor-substrate) complex of sucrase: kinetic studies of complex formation/stability; role of complex in prevention of hyperglycemia by L-arabinose (PMID:21165628)
• study found four common mutations in the SI gene (3 of the 4 are in the sucrase domain, with 1 in the isomaltase domain) account for 59 percent of clinical symptoms of congenital sucrase-isomaltase deficiency (CSID); the remaining 41 percent were rare events (PMID:23103650)
• SI mutations result in loss of enzyme function by preventing the biosynthesis of catalytically competent SI at the cell surface in lymphocytic leukemia (PMID:23418305)
• A common mutation was found in the sucrase-isomaltase gene, c.273_274delAG, to be responsible for the high prevalence of congenital sucrase-isomaltase deficiency among Inuit people. (PMID:25452324)
• Novel compound heterozygote V577G/C1531W SI mutations, which lead to lack of SI expression in the duodenal brush border, were found in a family with congenital sucrase-isomaltase deficiency. (PMID:27749612)
• Three biosynthetic phenotypes for the novel SI mutations were identified. The first biosynthetic phenotype was defined by mutants that are intracellularly transported in a fashion similar to wild type SI and with normal, but varying, levels of enzymatic activity. The second biosynthetic phenotype was defined by mutants with delayed maturation and trafficking kinetics and reduced activity. The third is inactive. (PMID:28062276)
• Through a 2-step computational and experimental strategy, the present study found increased prevalence new dysfunctional SI variants associated with irritable bowel syndrome. (PMID:29408290)
• Rare Hypomorphic Sucrase Isomaltase Variants in Relation to Irritable Bowel Syndrome Risk in UK Biobank. (PMID:34186061)
• The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency. (PMID:34242650)
• Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients. (PMID:36878682)
• Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates. (PMID:37349966)
• Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations. (PMID:39128102)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-236l14.4	ENSDARG00000062059
mus_musculus	Sis	ENSMUSG00000027790
rattus_norvegicus	Si	ENSRNOG00000031067
drosophila_melanogaster	GCS2alpha	FBGN0027588
drosophila_melanogaster	tobi	FBGN0261575
caenorhabditis_elegans		WBGENE00018682
caenorhabditis_elegans		WBGENE00019895

Paralogs (6): GANAB (ENSG00000089597), MYORG (ENSG00000164976), GAA (ENSG00000171298), GANC (ENSG00000214013), MGAM (ENSG00000257335), MGAM2 (ENSG00000257743)

Protein

Protein identifiers

Sucrase-isomaltase, intestinal — P14410 (reviewed: P14410)

All UniProt accessions (2): P14410, F8WF21

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides.

Subunit / interactions. The resulting sucrase and isomaltase subunits stay associated with one another in a complex by non-covalent linkages.

Subcellular location. Apical cell membrane.

Tissue specificity. Expressed in the poorly differentiated crypt cells of the small intestine as well as in the mature villous cells. Expressed at very low levels in the colon.

Post-translational modifications. The precursor is proteolytically cleaved when exposed to pancreatic proteases in the intestinal lumen. Sulfated.

Disease relevance. Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] Autosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. There is a high degree of homology between the isomaltase and sucrase portions (41% of amino acid identity) indicating that this protein is evolved by partial gene duplication.

Similarity. Belongs to the glycosyl hydrolase 31 family.

RefSeq proteins (1): NP_001032* (*=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 3.2.1.10 — oligo-1,6-glucosidase (BRENDA: 43 organisms, 190 substrates, 195 inhibitors, 113 Km, 55 kcat entries)
• EC 3.2.1.48 — sucrose alpha-glucosidase (BRENDA: 24 organisms, 52 substrates, 65 inhibitors, 74 Km, 15 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
SUCROSE	0.0607–138	33
ISOMALTOSE	0.45–37	23
4-NITROPHENYL ALPHA-D-GLUCOPYRANOSIDE	0.012–13.3	21
MALTOSE	0.135–13.5	15
ISOMALTOSE	0.455–19	11
SUCROSE	10.2–191	8
MALTOSE	0.13–62.8	7
PALATINOSE	3.5–27.2	7
ISOMALTOTRIOSE	1.7–16.7	6
TREHALOSE	2–320	5
P-NITROPHENYL-ALPHA-D-GLUCOPYRANOSIDE	0.21–0.81	4
PANOSE	1–15	4
ISOMALTOPENTAOSE	4.6–21	3
ISOMALTOTETRAOSE	2.8–13	3
ISOMALTRIOSE	72–128	3

UniProt features (175 total): strand 56, helix 26, glycosylation site 18, sequence variant 15, sequence conflict 15, turn 10, modified residue 8, active site 5, disulfide bond 5, binding site 4, chain 3, region of interest 3, topological domain 2, domain 2, initiator methionine 1, compositionally biased region 1, transmembrane region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3LPP	X-RAY DIFFRACTION	2.15
3LPO	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P14410-F1	93.86	0.86

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 (5): 505 (nucleophile; for isomaltase activity); 604 (for isomaltase activity); 1394 (nucleophile; for sucrase activity); 1397 (for sucrase activity); 1500 (proton donor; for isomaltase activity)

Ligand- & substrate-binding residues (4): 264; 388; 588; 662

Post-translational modifications (8): 7, 237, 239, 391, 400, 667, 763, 765

Disulfide bonds (5): 63–94, 77–93, 88–106, 520–545, 635–646

Glycosylation sites (18): 99, 437, 455, 823, 855, 904, 926, 1235, 1303, 1340, 1354, 1403, 1535, 1572, 1675, 1748, 1763, 1815

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-189085	Digestion of dietary carbohydrate
R-HSA-5659898	Intestinal saccharidase deficiencies
R-HSA-1643685	Disease
R-HSA-5663084	Diseases of carbohydrate metabolism
R-HSA-5668914	Diseases of metabolism
R-HSA-8935690	Digestion
R-HSA-8963743	Digestion and absorption

MSigDB gene sets: 104 (showing top): GOBP_DIGESTION, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, REACTOME_DIGESTION_OF_DIETARY_CARBOHYDRATE, GOBP_OLIGOSACCHARIDE_CATABOLIC_PROCESS, HNF1_Q6, chr3q26, MODULE_59, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, RYTAAWNNNTGAY_UNKNOWN, KEGG_STARCH_AND_SUCROSE_METABOLISM, GOCC_APICAL_PLASMA_MEMBRANE, AACTTT_UNKNOWN, GOBP_CARBOHYDRATE_CATABOLIC_PROCESS, SABATES_COLORECTAL_ADENOMA_DN, LIU_CDX2_TARGETS_UP

GO Biological Process (4): sucrose catabolic process (GO:0005987), polysaccharide digestion (GO:0044245), carbohydrate metabolic process (GO:0005975), disaccharide catabolic process (GO:0046352)

GO Molecular Function (10): alpha-1,4-glucosidase activity (GO:0004558), oligo-1,6-glucosidase activity (GO:0004574), sucrose alpha-glucosidase activity (GO:0004575), carbohydrate binding (GO:0030246), catalytic activity (GO:0003824), hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798), alpha-glucosidase activity (GO:0090599)

GO Cellular Component (6): Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), brush border (GO:0005903), apical plasma membrane (GO:0016324), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Digestion	1
Diseases of carbohydrate metabolism	1
Diseases of metabolism	1
Disease	1
Digestion and absorption	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
alpha-glucosidase activity	3
binding	2
apical part of cell	2
sucrose metabolic process	1
disaccharide catabolic process	1
digestion	1
primary metabolic process	1
disaccharide metabolic process	1
oligosaccharide catabolic process	1
beta-fructofuranosidase activity	1
molecular_function	1
hydrolase activity, acting on glycosyl bonds	1
catalytic activity	1
hydrolase activity	1
glucosidase activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
microvillus	1
cluster of actin-based cell projections	1
plasma membrane region	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2398 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SI	AMY2A	P04746	926
SI	AMY1B	P04745	924
SI	AMY2B	P19961	924
SI	DPP4	P27487	886
SI	INS	P01308	877
SI	LCT	P09848	840
SI	MOGS	Q13724	833
SI	IDUA	P35475	832
SI	SLC5A2	P31639	810
SI	GCG	P01275	791
SI	GLP1R	P43220	790
SI	ACHE	P22303	786
SI	GLB1	P16278	776
SI	BCHE	P06276	771
SI	GLA	P06280	737
SI	TREH	O43280	737

IntAct

6 interactions, top by confidence:

A	B	Type	Score
SI	DHRS2	psi-mi:“MI:0915”(physical association)	0.400
SI	MGAM	psi-mi:“MI:0915”(physical association)	0.400
SI	ADRB2	psi-mi:“MI:0915”(physical association)	0.370
	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): DHRS2 (Proximity Label-MS), SI (Two-hybrid), SI (Affinity Capture-MS), HIST1H1B (Cross-Linking-MS (XL-MS)), SI (Co-fractionation)

ESM2 similar proteins: A1CNK4, A1D1E6, A1D1Z9, A1DJ58, A2QAN3, A2QTU5, B0XAA1, B0XMP7, B0XNL6, B0XXE7, B8MZ41, B8N6V7, B8NWY6, B8QGZ3, B9F676, D4B0X3, F4J6T7, O04893, O04931, O43451, O62653, O74254, P14410, P22861, P29064, P38138, P56526, Q0CMA7, Q0CVH2, Q12558, Q2TW69, Q2UCU3, Q2UQV7, Q4WG05, Q4WRH9, Q4WS33, Q4ZHV7, Q5AWI5, Q5BFC4, Q8BVW0

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
PKA	unknown	SI	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

1708 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	71
Likely pathogenic	82
Uncertain significance	773
Likely benign	600
Benign	37

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1179095	NM_001041.4(SI):c.2025dup (p.Gly676fs)	Pathogenic
1179179	NM_001041.4(SI):c.793del (p.Gln265fs)	Pathogenic
1323594	NM_001041.4(SI):c.2242C>T (p.Gln748Ter)	Pathogenic
1360953	NM_001041.4(SI):c.4575T>G (p.Tyr1525Ter)	Pathogenic
1380540	NM_001041.4(SI):c.2649_2650insGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATCCTTGGGTTG (p.Thr884delinsAlaGlyArgSerGlySerArgLeuTer)	Pathogenic
1399272	NM_001041.4(SI):c.1079G>A (p.Trp360Ter)	Pathogenic
1413	NM_001041.4(SI):c.1022T>C (p.Leu341Pro)	Pathogenic
1414	NM_001041.4(SI):c.350A>G (p.Gln117Arg)	Pathogenic
1415	NM_001041.4(SI):c.1859T>C (p.Leu620Pro)	Pathogenic
1416	NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr)	Pathogenic
1444065	NM_001041.4(SI):c.4977C>G (p.Tyr1659Ter)	Pathogenic
1451987	NM_001041.4(SI):c.717T>A (p.Tyr239Ter)	Pathogenic
1452198	NM_001041.4(SI):c.887dup (p.Leu296fs)	Pathogenic
1452711	NC_000003.11:g.(?164737370)(164737578_?)del	Pathogenic
1454102	NM_001041.4(SI):c.3229C>T (p.Arg1077Ter)	Pathogenic
1454103	NM_001041.4(SI):c.1936del (p.Cys646fs)	Pathogenic
1456487	NM_001041.4(SI):c.4510C>T (p.Arg1504Ter)	Pathogenic
1457223	NM_001041.4(SI):c.1940del (p.Arg647fs)	Pathogenic
1459716	NM_001041.4(SI):c.4685del (p.Asn1562fs)	Pathogenic
1909508	NM_001041.4(SI):c.3080dup (p.Asn1027fs)	Pathogenic
1996357	NM_001041.4(SI):c.667_670dup (p.Asp224delinsValTer)	Pathogenic
2000687	NM_001041.4(SI):c.880del (p.Val294fs)	Pathogenic
2020136	NM_001041.4(SI):c.3121A>T (p.Arg1041Ter)	Pathogenic
2028537	NM_001041.4(SI):c.35_38del (p.Ile11_Ser12insTer)	Pathogenic
2032698	NM_001041.4(SI):c.4528A>T (p.Lys1510Ter)	Pathogenic
2060397	NM_001041.4(SI):c.586C>T (p.Gln196Ter)	Pathogenic
2060918	NM_001041.4(SI):c.5005G>T (p.Gly1669Ter)	Pathogenic
2079365	NM_001041.4(SI):c.2636_2643del (p.Lys879fs)	Pathogenic
2083854	NM_001041.4(SI):c.1692C>G (p.Tyr564Ter)	Pathogenic
2098964	NM_001041.4(SI):c.3187dup (p.Tyr1063fs)	Pathogenic

SpliceAI

5577 predictions. Top by Δscore:

Variant	Effect	Δscore
3:164982406:GTGGT:G	acceptor_gain	1.0000
3:164982407:TGGT:T	acceptor_gain	1.0000
3:164982408:GGT:G	acceptor_gain	1.0000
3:164982409:GT:G	acceptor_gain	1.0000
3:164982410:TC:T	acceptor_loss	1.0000
3:164982411:C:CA	acceptor_loss	1.0000
3:164982411:C:CC	acceptor_gain	1.0000
3:164982412:T:C	acceptor_loss	1.0000
3:164982413:A:AC	acceptor_gain	1.0000
3:164982413:A:C	acceptor_gain	1.0000
3:164982417:A:AC	acceptor_gain	1.0000
3:164982417:A:C	acceptor_gain	1.0000
3:164987227:C:CC	acceptor_gain	1.0000
3:164991348:CTTA:C	donor_loss	1.0000
3:164991349:TTAC:T	donor_loss	1.0000
3:164991350:TACCT:T	donor_loss	1.0000
3:164991351:A:AC	donor_gain	1.0000
3:164991351:AC:A	donor_gain	1.0000
3:164991351:ACCTG:A	donor_loss	1.0000
3:164991352:C:CA	donor_gain	1.0000
3:164991352:CC:C	donor_gain	1.0000
3:164991352:CCT:C	donor_gain	1.0000
3:164991352:CCTGT:C	donor_gain	1.0000
3:164991476:CC:C	acceptor_gain	1.0000
3:164991477:CC:C	acceptor_gain	1.0000
3:164991478:C:A	acceptor_loss	1.0000
3:164991479:T:A	acceptor_loss	1.0000
3:164991484:A:AC	acceptor_gain	1.0000
3:164992175:A:AC	donor_gain	1.0000
3:164992176:C:CG	donor_gain	1.0000

AlphaMissense

12115 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:164996555:G:C	H1558D	0.999
3:164996559:C:A	R1556S	0.999
3:164996559:C:G	R1556S	0.999
3:164996560:C:A	R1556M	0.999
3:164996560:C:G	R1556T	0.999
3:164996594:A:G	W1545R	0.999
3:164996594:A:T	W1545R	0.999
3:164996601:A:C	C1542W	0.999
3:164996628:A:C	F1533L	0.999
3:164996628:A:T	F1533L	0.999
3:164996630:A:G	F1533L	0.999
3:164996634:A:C	C1531W	0.999
3:164996635:C:T	C1531Y	0.999
3:164998565:C:A	W1505C	0.999
3:164998565:C:G	W1505C	0.999
3:164996550:G:C	N1559K	0.998
3:164996550:G:T	N1559K	0.998
3:164996553:G:C	H1558Q	0.998
3:164996553:G:T	H1558Q	0.998
3:164996556:A:C	N1557K	0.998
3:164996556:A:T	N1557K	0.998
3:164996592:C:A	W1545C	0.998
3:164996592:C:G	W1545C	0.998
3:164996602:C:G	C1542S	0.998
3:164996602:C:T	C1542Y	0.998
3:164996603:A:G	C1542R	0.998
3:164996603:A:T	C1542S	0.998
3:164996635:C:A	C1531F	0.998
3:164996635:C:G	C1531S	0.998
3:164996636:A:G	C1531R	0.998

dbSNP variants (sampled 300 via entrez): RS1000026420 (3:165050040 A>G), RS1000056324 (3:165011582 CT>C), RS1000067840 (3:165089825 G>A), RS1000071460 (3:165125092 C>A,G,T), RS1000095710 (3:165005256 G>A), RS1000099523 (3:165051187 C>T), RS1000108338 (3:165088340 C>G), RS1000109548 (3:165011261 A>T), RS1000117798 (3:164989411 A>G), RS1000127530 (3:165060991 A>G), RS1000129538 (3:165076979 T>TTTG), RS1000134057 (3:165126375 T>C), RS1000145399 (3:165006370 A>T), RS1000155010 (3:165155912 G>A,T), RS1000176165 (3:165038336 T>G)

Disease associations

OMIM: gene MIM:609845 | disease phenotypes: MIM:222900

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital sucrase-isomaltase deficiency	Strong	Autosomal recessive

Mondo (2): congenital sucrase-isomaltase deficiency (MONDO:0009114), prostate cancer (MONDO:0008315)

Orphanet (2): Congenital sucrase-isomaltase deficiency (Orphanet:35122), Familial prostate cancer (Orphanet:1331)

HPO phenotypes

19 total (19 of 19 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000787	Nephrolithiasis
HP:0001508	Failure to thrive
HP:0002013	Vomiting
HP:0002014	Diarrhea
HP:0002018	Nausea
HP:0002019	Constipation
HP:0002020	Gastroesophageal reflux
HP:0002024	Malabsorption
HP:0002027	Abdominal pain
HP:0002607	Bowel incontinence
HP:0003270	Abdominal distention
HP:0003593	Infantile onset
HP:0004396	Poor appetite
HP:0011848	Abdominal colic
HP:0012378	Fatigue
HP:0025085	Bloody diarrhea
HP:0033589	Flatulence
HP:0033597	Decreased mucosal sucrase-isomaltase activity

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004643_5	1,5-anhydroglucitol levels	4.000000e-17
GCST009391_1341	Metabolite levels	5.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008009	1,5 anhydroglucitol measurement
EFO:0010362	lysophosphatidylcholine 20:3 measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
C538139	Sucrase-isomaltase deficiency, congenital (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2748 (SINGLE PROTEIN), CHEMBL3833502 (PROTEIN FAMILY)

Molecules with ChEMBL bioactivity

9 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 176,559 (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
CHEMBL1029	MIGLUSTAT	4	4,770
CHEMBL110458	MIGALASTAT	4	430
CHEMBL1561	MIGLITOL	4	29,089
CHEMBL404271	ACARBOSE	4	16
CHEMBL1086997	LUCERASTAT	3	74
CHEMBL50	QUERCETIN	3	74,559
CHEMBL85398	THIAZOLIDINEDIONE	3	54,290
CHEMBL307429	DUVOGLUSTAT	2	4,739
CHEMBL8260	BAICALEIN	2	8,592

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

Binding affinities (BindingDB)

2 measured of 3 human assays (3 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
N-[5-(Adamantan-1-yl-methoxy)-pentyl]-D-galacto-1-deoxynojirimycin	IC50	3500 nM
N-[5-(Adamantan-1-yl-methoxy)-pentyl]-L-altro-1-deoxynojirimycin	IC50	1e+06 nM

ChEMBL bioactivities

487 potent at pChembl≥5 of 793 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.64	IC50	2.3	nM	CHEMBL3349437
8.54	IC50	2.9	nM	CHEMBL2374254
8.48	IC50	3.3	nM	CHEMBL3349441
8.34	IC50	4.6	nM	CHEMBL3349431
8.28	IC50	5.2	nM	CHEMBL3349432
8.18	IC50	6.6	nM	CHEMBL2374253
8.17	IC50	6.8	nM	CHEMBL3349442
8.15	Ki	7	nM	CHEMBL1258644
8.12	IC50	7.5	nM	CHEMBL2051761
8.03	IC50	9.3	nM	CHEMBL3349433
8.00	IC50	10	nM	CHEMBL2051983
7.96	IC50	11	nM	CHEMBL3349438
7.85	IC50	14	nM	CHEMBL3349443
7.82	IC50	15	nM	CHEMBL3349435
7.82	IC50	15	nM	CHEMBL3349446
7.82	IC50	15	nM	CHEMBL3349434
7.46	IC50	35	nM	CHEMBL2051982
7.46	Ki	35	nM	CHEMBL1258644
7.44	IC50	36	nM	CHEMBL2051762
7.40	IC50	40	nM	CHEMBL498833
7.31	IC50	49	nM	VALIOLAMINE
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
7.10	IC50	80	nM	CHEMBL2051981
7.09	IC50	82	nM	CHEMBL4854113
7.05	IC50	90	nM	CHEMBL4475313
7.05	IC50	90	nM	CHEMBL4531736

PubChem BioAssay actives

453 with measured affinity, of 953 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
(1S,2S,3R,4S,5S)-1-(hydroxymethyl)-5-(2-phenylethylamino)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0023	uM
(1S,2R,3S,4S,5S)-1-(hydroxymethyl)-5-[[(2R)-2-hydroxy-2-phenylethyl]amino]cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0029	uM
(1S,2S,3R,4S,5S)-1-(hydroxymethyl)-5-(thiophen-2-ylmethylamino)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0033	uM
(1S,2S,3R,4S,5S)-5-[bis(hydroxymethyl)amino]-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0046	uM
(1S,2S,3R,4S,5S)-5-[[(1R,2R)-2-hydroxycyclohexyl]amino]-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0052	uM
(1S,2S,3R,4S,5S)-1-(hydroxymethyl)-5-[[(1R)-2-hydroxy-1-phenylethyl]amino]cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0066	uM
(1S,2S,3R,4S,5S)-5-[(3,5-ditert-butyl-4-hydroxyphenyl)methylamino]-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0068	uM
(2S,3R,4S,5S)-6-[(2R,3S,4S)-3,4-dihydroxy-2-(hydroxymethyl)thiolan-1-ium-1-yl]-4-methoxyhexane-1,2,3,5-tetrol chloride	625718: Inhibition of human recombinant C-terminal Sucrase-isomaltase by Lineweaver-Burk plot analysis	ki	0.0070	uM
(1S,2S,3R,4S,5S)-5-[[(1R,2S,3S,4S,6S)-4-amino-2,3-dihydroxy-6-methylcyclohexyl]amino]-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0075	uM
(1S,2S,3R,4S,5S)-5-(cyclohexylmethylamino)-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0093	uM
(1S,2S,3R,4S,5S)-5-[[(2R,3S,4S,5R,6S)-4,5-dihydroxy-6-methoxy-2-methyloxan-3-yl]amino]-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0100	uM
(1S,2S,3R,4S,5S)-5-[[(2E)-3,7-dimethylocta-2,6-dienyl]amino]-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0110	uM
(1S,2S,3R,4S,5S)-1-(hydroxymethyl)-5-[[(E)-3-phenylprop-2-enyl]amino]cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0140	uM
(1S,2S,3R,4S,5S)-5-(cyclohexylamino)-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0150	uM
(1S,2S,3R,4S,5S)-5-[(4-bromophenyl)methylamino]-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0150	uM
(1S,2S,3R,4S,5S)-1-(hydroxymethyl)-5-(pyridin-3-ylmethylamino)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0150	uM
(1S,2S,3R,4S,5S)-1-(hydroxymethyl)-5-[[(1S,2S,3S,4R,6S)-2,3,4-trihydroxy-6-methylcyclohexyl]amino]cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0350	uM
(1S,2S,3R,4S,5S)-1-(hydroxymethyl)-5-[[(1S,2S,3S,4S,6S)-2,3,4-trihydroxy-6-methylcyclohexyl]amino]cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0360	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
(1S,2S,3R,4S,5S)-5-amino-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0490	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-[[(2S,3S,4S,5R,6S)-4,5-dihydroxy-2-(hydroxymethyl)-6-methoxyoxan-3-yl]amino]-1-(hydroxymethyl)cyclohexane-1,2,3,4-tetrol	208984: Alpha-D-glucosidase inhibitory activity and enzyme inhibition in vitro against porcine sucrase	ic50	0.0800	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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
naringenin	affects binding, decreases activity	1
arsenic acid	decreases expression	1
4-phenylenediamine	increases expression	1
N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide	decreases expression, decreases reaction	1
azaspiracid	decreases expression	1
trans-10,cis-12-conjugated linoleic acid	decreases expression	1
Arsenic Trioxide	decreases expression	1
Ascorbic Acid	affects cotreatment, decreases expression	1
Aspirin	increases activity	1
Berberine	decreases expression, decreases reaction	1
Calcitriol	decreases expression, affects cotreatment	1
Dinitrochlorobenzene	increases expression	1
Quercetin	affects cotreatment, decreases expression	1
Smoke	increases expression	1
Testosterone	decreases expression, affects cotreatment	1
Aflatoxin B1	decreases methylation	1

ChEMBL screening assays

148 unique, capped per target: 148 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1007703	Binding	Inhibition of sucrase	Sesterterpenoids, terretonins A-D, and an alkaloid, asterrelenin, from Aspergillus terreus. — J Nat Prod

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05480761	PHASE4	TERMINATED	7-Day Trial of Sucraid for Alleviating CSID Symptoms in Subjects With Low, Moderate, and Normal Sucrase Levels
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer