GBA3

gene
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Also known as GLUCKLrPCBGL1

Summary

GBA3 (glucosylceramidase beta 3 (gene/pseudogene), HGNC:19069) is a protein-coding gene on chromosome 4p15.2, encoding Cytosolic beta-glucosidase (Q9H227). Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides.

The protein encoded by this gene is a cytosolic enzyme that can hydrolyze several types of glycosides. The enzyme has its highest activity at neutral pH and is predominantly expressed in human liver, kidney, intestine, and spleen. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 57733 — RefSeq curated summary.

At a glance

  • GWAS associations: 17
  • Clinical variants (ClinVar): 76 total
  • Druggable target: yes — 1 molecules with ChEMBL bioactivity

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:19069
Approved symbolGBA3
Nameglucosylceramidase beta 3 (gene/pseudogene)
Location4p15.2
Locus typegene with protein product
StatusApproved
AliasesGLUC, KLrP, CBGL1
Ensembl geneENSG00000249948
Ensembl biotypeprotein_coding
OMIM606619
Entrez57733

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding_LoF, 2 protein_coding_CDS_not_defined

ENST00000503442, ENST00000504802, ENST00000508166, ENST00000508264, ENST00000511446

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000503442 — 3 exons

ExonStartEnd
ENSE000020482862269292522693073
ENSE000020792852281872122819575
ENSE000035037162273598122736208

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 99.77.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.0484 / max 558.3957, expressed in 43 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter IDTPM avgSamples expressed
470830.486432
470840.287327
470820.119414
470850.059414
470880.04876
470860.043014
470810.00412

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
jejunal mucosaUBERON:000039999.77gold quality
ileal mucosaUBERON:000033197.64gold quality
duodenumUBERON:000211495.30gold quality
adult mammalian kidneyUBERON:000008294.46gold quality
liverUBERON:000210794.26gold quality
right lobe of liverUBERON:000111493.89gold quality
renal medullaUBERON:000036293.47gold quality
adult organismUBERON:000702392.21gold quality
kidneyUBERON:000211388.92gold quality
nephron tubuleUBERON:000123187.08gold quality
small intestine Peyer’s patchUBERON:000345486.65gold quality
small intestineUBERON:000210886.64gold quality
kidney epitheliumUBERON:000481985.52gold quality
buccal mucosa cellCL:000233683.39silver quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047383.28gold quality
gall bladderUBERON:000211081.93gold quality
jejunumUBERON:000211581.37gold quality
colonic mucosaUBERON:000031781.03gold quality
metanephros cortexUBERON:001053381.02gold quality
mucosa of transverse colonUBERON:000499180.57gold quality
cortex of kidneyUBERON:000122580.43gold quality
mucosa of sigmoid colonUBERON:000499378.44gold quality
renal glomerulusUBERON:000007477.35gold quality
metanephric glomerulusUBERON:000473676.94gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099176.15gold quality
metanephrosUBERON:000008174.84gold quality
right uterine tubeUBERON:000130272.32gold quality
spleenUBERON:000210672.02gold quality
rectumUBERON:000105269.59gold quality
transverse colonUBERON:000115769.37gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-GEOD-125970yes17.16
E-ANND-3yes9.36

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 7)

  • The positioning of a substrate molecule (quercetin-4’-glucoside) by homology modelling revealed that hydrophobic interactions dominate the binding of the aglycone moiety. (PMID:17555766)
  • The crystal structure of a covalent intermediate of the KLrP mutant E165Q, in which glucose was covalently bound to a nucleophile, Glu(373), is reported. (PMID:18662675)
  • No correlation was observed between GBA3 1368A/T haplotypes and severity of type 1 Gaucher disease manifestation (PMID:20728381)
  • cytosolic GBA3 is likely involved in the catabolism of cytosolic sialyl free N-glycans, possibly by stabilizing the activity of the NEU2 protein (PMID:26193330)
  • Decreased expression of GBA3 correlates with a poor prognosis in hepatocellular carcinoma patients. (PMID:32412773)
  • GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution. (PMID:32665690)
  • GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription. (PMID:38428407)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriogba3ENSDARG00000031150
rattus_norvegicusGba3ENSRNOG00000024634
drosophila_melanogasterCG9701FBGN0036659
caenorhabditis_elegansWBGENE00016848
caenorhabditis_elegansWBGENE00017103

Paralogs (4): LCT (ENSG00000115850), KL (ENSG00000133116), KLB (ENSG00000134962), LCTL (ENSG00000188501)

Protein

Protein identifiers

Cytosolic beta-glucosidaseQ9H227 (reviewed: Q9H227)

Alternative names: Cytosolic beta-glucosidase-like protein 1, Cytosolic galactosylceramidase, Cytosolic glucosylceramidase, Cytosolic glycosylceramidase, Glucosidase beta acid 3, Glucosylceramidase beta 3, Klotho-related protein

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides. Has a significant glucosylceramidase activity in vitro. However, that activity is relatively low and its significance in vivo is not clear. Hydrolyzes galactosylceramides/GalCers, glucosylsphingosines/GlcSphs and galactosylsphingosines/GalSphs. However, the in vivo relevance of these activities is unclear. It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics. Possesses transxylosylase activity in vitro using xylosylated ceramides/XylCers (such as beta-D-xylosyl-(1<->1’)-N-acylsphing-4-enine) as xylosyl donors and cholesterol as acceptor. Could also play a role in the catabolism of cytosolic sialyl free N-glycans.

Subunit / interactions. May interact with NEU2.

Subcellular location. Cytoplasm. Cytosol.

Tissue specificity. Present in small intestine (at protein level). Expressed in liver, small intestine, colon, spleen and kidney. Down-regulated in renal cell carcinomas and hepatocellular carcinomas.

Post-translational modifications. The N-terminus is blocked.

Activity regulation. Inhibited by 2,4-dinitrophenyl-2-fluoro-2-deoxy-beta-D-glucopyranoside. Inhibited by sodium taurocholate. Inhibited by alpha-1-C-nonyl-DIX/AnDIX. The glucosylceramidase activity is slightly inhibited by conduritol B epoxide/CBE while the galactosylceramidase activity is not.

Polymorphism. The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 456 in the reference genome, leading to the synthesis of a truncated protein lacking enzymatic activity in vitro. The sequence shown in this entry is that of variant p.Ter456Tyr, which has a frequency of about 88% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2) and gives rise to a fully active beta-glucosidase.

Similarity. Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.

Isoforms (2)

UniProt IDNamesCanonical?
Q9H227-11yes
Q9H227-22

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001360Glyco_hydro_1Family
IPR017853GH_hydrolase_sfHomologous_superfamily
IPR033132GH_1_N_CSConserved_site

Pfam: PF00232

Enzyme classification (BRENDA):

  • EC 3.2.1.21 — beta-glucosidase (BRENDA: 355 organisms, 1036 substrates, 816 inhibitors, 1052 Km, 608 kcat entries)

Substrate kinetics (BRENDA)

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

SubstrateKm (mM)Measurements
CELLOBIOSE0.002–200149
4-NITROPHENYL BETA-D-GLUCOPYRANOSIDE0.006–68134
4-NITROPHENYL-BETA-D-GLUCOPYRANOSIDE0.001–10.34121
P-NITROPHENYL-BETA-D-GLUCOPYRANOSIDE0.007–1234
2-NITROPHENYL BETA-D-GLUCOPYRANOSIDE0.023–6.633
DHURRIN0.031–224
SALICIN0.12–37.1424
4-NITROPHENYL BETA-D-GLUCOSIDE0.114–6.0919
4-NITROPHENYL-BETA-D-FUCOSIDE0.12–2.719
GENTIOBIOSE0.21–10018
4-NITROPHENYL-BETA-D-GALACTOSIDE0.11–16.615
4-NITROPHENYL BETA-D-FUCOPYRANOSIDE0.14–514
4-NITROPHENYL-BETA-D-GALACTOPYRANOSIDE0.23–10.213
4-NITROPHENYL BETA-D-GALACTOPYRANOSIDE0.64–17.612
CELLOTRIOSE0.0468–3912

Catalyzed reactions (Rhea), 7 shown:

  • a beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-glucose (RHEA:13269)
  • a beta-D-galactosyl-(1<->1’)-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose (RHEA:14297)
  • beta-D-galactosyl-(1<->1)-sphing-4-enine + H2O = sphing-4-enine + D-galactose (RHEA:43908)
  • beta-D-glucosyl-(1<->1)-N-octadecanoylsphing-4-enine + H2O = N-octadecanoylsphing-4-enine + D-glucose (RHEA:59284)
  • beta-D-glucosyl-(1<->1)-sphing-4-enine + H2O = sphing-4-enine + D-glucose (RHEA:59288)
  • beta-D-galactosyl-(1<->1’)-N-octadecanoylsphing-4-enine + H2O = N-octadecanoylsphing-4-enine + D-galactose (RHEA:59292)
  • a beta-D-xylosyl-(1<->1’)-N-acylsphing-4-enine + cholesterol = cholesteryl 3-beta-D-xyloside + an N-acylsphing-4-enine (RHEA:70239)

UniProt features (68 total): helix 22, strand 16, mutagenesis site 7, binding site 6, sequence variant 5, sequence conflict 5, turn 3, active site 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

5 structures.

PDBMethodResolution (Å)
2E9LX-RAY DIFFRACTION1.6
2E9MX-RAY DIFFRACTION1.8
2ZOXX-RAY DIFFRACTION1.9
3VKKX-RAY DIFFRACTION2
2JFEX-RAY DIFFRACTION2.7

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9H227-F197.300.97

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): 165 (proton donor); 373 (nucleophile)

Ligand- & substrate-binding residues (6): 17; 120; 164; 309; 417; 424–425

Mutagenesis-validated functional residues (7):

PositionPhenotype
1652-fold decreased glucosylceramidase activity.
165loss of glucosylceramidase activity.
168no change in temperature or ph dependence. decreased glucosidase activity.
225decreased glucosidase activity.
308decreased glucosidase activity.
3732-fold decreased glucosylceramidase activity.
373loss of glucosylceramidase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-9840310Glycosphingolipid catabolism

MSigDB gene sets: 64 (showing top): GOBP_CERAMIDE_CATABOLIC_PROCESS, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_OLIGOSACCHARIDE_CATABOLIC_PROCESS, GOBP_MEMBRANE_LIPID_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_GLYCOLIPID_CATABOLIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_PROTEIN_STABILIZATION, CAIRO_HEPATOBLASTOMA_DN, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, ZHAN_MULTIPLE_MYELOMA_HP_UP, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_LIPID_METABOLIC_PROCESS

GO Biological Process (8): glucosylceramide catabolic process (GO:0006680), galactosylceramide catabolic process (GO:0006683), oligosaccharide catabolic process (GO:0009313), glycoside catabolic process (GO:0016139), glycosylceramide catabolic process (GO:0046477), glycosphingolipid catabolic process (GO:0046479), protein stabilization (GO:0050821), beta-glucoside catabolic process (GO:1901805)

GO Molecular Function (5): galactosylceramidase activity (GO:0004336), glucosylceramidase activity (GO:0004348), beta-galactosidase activity (GO:0004565), beta-glucosidase activity (GO:0008422), glycosylceramidase activity (GO:0017042)

GO Cellular Component (3): cytosol (GO:0005829), membrane (GO:0016020), catalytic complex (GO:1902494)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Glycosphingolipid metabolism1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
glycosylceramide catabolic process2
glycosylceramidase activity2
cellular anatomical structure2
glucosylceramide metabolic process1
galactosylceramide metabolic process1
galactolipid catabolic process1
oligosaccharide metabolic process1
carbohydrate catabolic process1
glycoside metabolic process1
glycosyl compound catabolic process1
glycosylceramide metabolic process1
glycosphingolipid catabolic process1
ceramide catabolic process1
glycosphingolipid metabolic process1
glycolipid catabolic process1
sphingolipid catabolic process1
regulation of protein stability1
glycoside catabolic process1
galactosidase activity1
glucosidase activity1
hydrolase activity, hydrolyzing O-glycosyl compounds1
cytoplasm1
protein-containing complex1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

4 interactions, top by confidence:

ABTypeScore
PDCL3GBA3psi-mi:“MI:0915”(physical association)0.400
GBA3PRKCSHpsi-mi:“MI:0915”(physical association)0.370
GBA3DIRAS1psi-mi:“MI:0914”(association)0.350

BioGRID (11): GBA3 (Two-hybrid), GBA3 (Affinity Capture-MS), GBA3 (Affinity Capture-MS), GBA3 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), DIRAS1 (Affinity Capture-MS), PDCL (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), GLG1 (Cross-Linking-MS (XL-MS)), PRKCSH (Two-hybrid)

ESM2 similar proteins: A0AAW1I778, A2SY66, A3BMZ5, A3C053, B7F8N7, B8AVF0, B9FHH2, E3W9M3, O64879, O64882, P26205, P97265, Q0DA21, Q0J0G1, Q0J0N4, Q2QSR8, Q339X2, Q3ECS3, Q5JK35, Q5N863, Q5RF65, Q5Z9Z0, Q682B4, Q75W17, Q7F9K4, Q7XKV2, Q7XKV4, Q7XKV5, Q7XPY7, Q7XSK0, Q84YK7, Q8GRX1, Q8GU20, Q8L7J2, Q8RZL1, Q95X01, Q9FH03, Q9FIU7, Q9FIW4, Q9FLU8

Diamond homologs: A2SY66, A3BMZ5, A3RF67, A5IUX8, A6U3R9, A7X569, B6ZKM3, B6ZKM4, B6ZKN1, B8AVF0, B9K7M5, C7N8L9, D5MTF8, E4Q361, O05508, O48779, O64879, O64883, O80690, P09848, P09849, P0C946, P10482, P12614, P22073, P22505, P26208, P38645, P42403, P67767, P94248, P97265, Q00326, Q02401, Q03506, Q08638, Q0DA21, Q0J0G2, Q0J0N4, Q1XH04

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance65
Likely benign4
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1565 predictions. Top by Δscore:

VariantEffectΔscore
4:22735977:TCA:Tacceptor_loss1.0000
4:22735980:G:GTacceptor_loss1.0000
4:22735980:GGA:Gacceptor_gain1.0000
4:22748063:G:Tdonor_gain1.0000
4:22748831:TTTTA:Tacceptor_loss1.0000
4:22748832:TTTA:Tacceptor_loss1.0000
4:22748833:TTAG:Tacceptor_loss1.0000
4:22748834:TA:Tacceptor_loss1.0000
4:22748835:A:AGacceptor_gain1.0000
4:22748835:AGGAT:Aacceptor_loss1.0000
4:22748836:G:GAacceptor_loss1.0000
4:22748836:G:GGacceptor_gain1.0000
4:22748923:G:GTdonor_gain1.0000
4:22748948:G:GTdonor_gain1.0000
4:22803295:GCCTA:Gdonor_gain1.0000
4:22693071:AAGG:Adonor_loss0.9900
4:22693072:AGGTA:Adonor_loss0.9900
4:22693074:G:Cdonor_loss0.9900
4:22693075:T:Gdonor_loss0.9900
4:22710282:G:GGdonor_gain0.9900
4:22735979:A:AGacceptor_gain0.9900
4:22735979:AGGAG:Aacceptor_gain0.9900
4:22735980:G:GGacceptor_gain0.9900
4:22735980:GGAGG:Gacceptor_gain0.9900
4:22736103:G:GTdonor_gain0.9900
4:22736160:T:Aacceptor_gain0.9900
4:22748063:G:GTdonor_gain0.9900
4:22748835:AG:Aacceptor_gain0.9900
4:22748836:GG:Gacceptor_gain0.9900
4:22748836:GGAT:Gacceptor_gain0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS10000431 (4:22784411 T>C), RS1000048890 (4:22729596 C>T), RS1000068155 (4:22802848 A>C), RS1000079017 (4:22739911 C>T), RS1000093634 (4:22778684 C>T), RS1000110695 (4:22698195 G>T), RS1000121190 (4:22695526 G>A), RS1000125196 (4:22802721 A>G,T), RS1000142216 (4:22712461 T>G), RS1000155866 (4:22778771 T>A), RS1000225757 (4:22772793 A>C,G), RS1000231772 (4:22720931 C>G,T), RS1000233173 (4:22812743 G>A), RS1000262062 (4:22727214 A>G), RS1000328718 (4:22755082 T>TG)

Disease associations

OMIM: gene MIM:606619 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

StudyTraitp-value
GCST002682_6Tourette’s syndrome or obsessive-compulsive disorder9.000000e-06
GCST002932_8Manganese levels6.000000e-06
GCST003152_3White matter lesion progression (adjusted for white matter lesion burden at baseline)2.000000e-06
GCST005025_6Anti-saccade response2.000000e-06
GCST005790_91Rosacea symptom severity4.000000e-06
GCST005926_1Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma8.000000e-07
GCST006249_42Serum metabolite levels3.000000e-17
GCST007844_6Ankylosing spondylitis7.000000e-06
GCST009391_974Metabolite levels6.000000e-07
GCST009391_990Metabolite levels4.000000e-06
GCST009733_234Urinary metabolite levels in chronic kidney disease1.000000e-30
GCST009733_52Urinary metabolite levels in chronic kidney disease2.000000e-27
GCST009733_53Urinary metabolite levels in chronic kidney disease2.000000e-14
GCST009733_54Urinary metabolite levels in chronic kidney disease2.000000e-38
GCST009735_42Urinary metabolite modules (eigenmetabolites) in chronic kidney disease2.000000e-30
GCST011983_5Fasting glucose7.000000e-07
GCST012020_99Serum metabolite levels2.000000e-27

EFO canonical traits (8, from GWAS)

EFO IDTrait name
EFO:0007746white matter lesion progression measurement
EFO:0006874antisaccade response measurement
EFO:0009180rosacea severity measurement
EFO:0005843cortisol measurement
EFO:0009175response to synacthen
EFO:0010538taurocholate measurement
EFO:0010475deoxycholate measurement
EFO:0005116urinary metabolite measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3865 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 4,739 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL307429DUVOGLUSTAT24,739

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

ChEMBL bioactivities

1 potent at pChembl≥5 of 4 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
5.70IC502000nMCHEMBL2029773

PubChem BioAssay actives

1 with measured affinity, of 63 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
(2R,3S,4S,5R)-2-(2-octylsulfanylethyl)piperidine-3,4,5-triol;hydrochloride662919: Inhibition of human cytosolic beta-glucosidase using 4-methylumbelliferyl beta-D-glucopyranoside as substrate after 15 mins by fluorimetric analysisic502.0000uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Aflatoxin B1affects expression, decreases expression, decreases methylation4
sodium arsenitedecreases expression, increases expression2
Acetaminophenaffects cotreatment, decreases expression2
Benzo(a)pyrenedecreases expression, increases methylation, affects methylation2
Valproic Aciddecreases methylation, increases expression2
Cyclosporinedecreases expression2
methyleugenoldecreases expression1
propionaldehydedecreases expression1
bisphenol Aaffects methylation1
butyraldehydedecreases expression1
perfluorooctanoic aciddecreases expression1
benzo(e)pyreneincreases methylation1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression, affects cotreatment1
pentanaldecreases expression1
CGP 52608affects binding, increases reaction1
perfluoro-n-nonanoic aciddecreases expression1
belinostatdecreases expression1
Rosiglitazonedecreases expression1
Troglitazonedecreases expression1
Aldehydesdecreases expression1
Chenodeoxycholic Aciddecreases expression, affects cotreatment1
Deoxycholic Aciddecreases expression, affects cotreatment1
Estradioldecreases expression1
Glycochenodeoxycholic Acidaffects cotreatment, decreases expression1
Glycocholic Acidaffects cotreatment, decreases expression1
Glycodeoxycholic Acidaffects cotreatment, decreases expression1
Lipopolysaccharidesaffects response to substance, affects cotreatment, increases expression1
Methapyrileneincreases methylation1
Silicon Dioxidedecreases expression1
Tartrazineaffects cotreatment, decreases expression1

ChEMBL screening assays

14 unique, capped per target: 14 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1007694BindingInhibition of beta-glucosidaseIminosugar-producing Thai medicinal plants. — J Nat Prod

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ankylosing spondylitis