Gene info: ID 2629

Gene: GBA

GENE ID: 2629

Synonyms: GBA1|GCB|GLUC

Description: glucosylceramidase beta

Gene type: protein-coding

Location: 1q22

dbXrefs: Ensembl:ENSG00000177628 MIM:606463 Vega:OTTHUMG00000035841 UniprotKB:P04062

RefSeq: NG_009783.1

Retrived from: PubMed

SNPs: 0 ANCO-SNPs

Phenotype: ND

# Publications: 3

Sherlock p-value : NA (AD) NA (ND) (Frontal_Cortex)

Pascal p-value : 4.704e-1 (AD) 3.988e-1 (ND)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
STRIP1	0.924
DHDDS	0.923
RNF121	0.922
APEH	0.921
MTOR	0.918
AREL1	0.914
C16orf58	0.914
SLC27A4	0.914
RNF26	0.914
AFG3L2	0.913

Top 10 negatively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
OR4F5	-0.542
OR4F29	-0.49
MTRNR2L6	-0.446
CLEC2B	-0.433
MTRNR2L9	-0.433
RAI14	-0.416
MTRNR2L10	-0.405
YES1	-0.399
HEY2	-0.394
PPBP	-0.393

ID	Drug Name	Drug Type	CAS Num	Status	Role
DB03106	scyllo-inositol	Small Molecule	488-59-5	Investigational	Target
DB03740	N-acetyl-alpha-D-glucosamine	Small Molecule	10036-64-3	Experimental	Target
DB06720	Velaglucerase alfa	BiotechDrug	884604-91-5	Approved\|Investigational	Target
DB08283	(2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3,4,5-TRIOL	Small Molecule		Experimental	Target

ID	Drug Name	Action	PubMed
C002202	4-oxoretinoic acid	4-oxoretinoic acid results in decreased expression of GBA mRNA	15982314
D000082	Acetaminophen	Acetaminophen affects the expression of GBA mRNA	17562736
D020106	Acrylamide	Acrylamide results in increased expression of GBA mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of GBA gene	27153756
C103303	alitretinoin	alitretinoin results in decreased expression of GBA mRNA	15982314
D013196	Dihydrotestosterone	Dihydrotestosterone results in decreased activity of GBA protein	9101438
C006632	arsenic trioxide	arsenic trioxide results in increased expression of GBA mRNA	15761015
C547126	AZM551248	AZM551248 results in increased expression of GBA mRNA	22323515
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in decreased expression of GBA mRNA	26377693
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of GBA mRNA	22228805
C006780	bisphenol A	bisphenol A results in increased expression of GBA mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of GBA mRNA	22687993
C006780	bisphenol A	bisphenol A affects the expression of GBA mRNA	25181051
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of GBA mRNA	23741332
C011423	conduritol epoxide	[conduritol epoxide binds to and results in decreased activity of GBA protein] which results in increased expression of SNCA protein	19576930
C011423	conduritol epoxide	[conduritol epoxide binds to and results in decreased activity of GBA protein] which affects the localization of SNCA protein	19576930
C011423	conduritol epoxide	[conduritol epoxide binds to and results in decreased activity of GBA protein] which results in increased expression of SNCA protein	19576930
C011423	conduritol epoxide	conduritol epoxide analog results in decreased activity of GBA protein	9101438
C011423	conduritol epoxide	conduritol epoxide binds to and results in decreased activity of GBA protein	19576930
D003907	Dexamethasone	Dexamethasone results in increased activity of GBA protein	9101438
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of GBA mRNA	17361019
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased activity of GBA protein	9101438
C522917	eliglustat	eliglustat results in decreased activity of and affects the localization of GBA protein	21250698
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of GBA mRNA	17942748
D018120	Finasteride	Finasteride results in increased expression of GBA mRNA	24136188
D005839	Gentamicins	Gentamicins results in increased expression of GBA mRNA	22061828
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of GBA mRNA	25613284
C098432	isofagomine	isofagomine results in decreased activity of GBA protein	21250698
C544151	jinfukang	jinfukang results in increased expression of GBA mRNA	27392435
D048628	Ketolides	Ketolides analog results in increased expression of GBA mRNA	24967691
C045463	leflunomide	leflunomide results in increased expression of GBA mRNA	24136188
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of GBA mRNA	25613284
D037742	Nanotubes, Carbon	"Nanotubes, Carbon analog results in increased expression of GBA mRNA"	25554681
D037742	Nanotubes, Carbon	"Nanotubes, Carbon results in increased expression of GBA mRNA"	25554681
C112150	N-nonyl-1-deoxynojirimycin	N-nonyl-1-deoxynojirimycin results in decreased activity of GBA protein	21370884
D010634	Phenobarbital	Phenobarbital results in decreased expression of GBA mRNA	25270620
C059514	resveratrol	resveratrol inhibits the reaction [GBA protein mutant form results in decreased expression of ACAT1 protein]	26027833
C059514	resveratrol	resveratrol inhibits the reaction [GBA protein mutant form results in decreased expression of CS protein]	26027833
C059514	resveratrol	resveratrol inhibits the reaction [GBA protein mutant form results in decreased expression of PDHX protein]	26027833
C059514	resveratrol	resveratrol inhibits the reaction [GBA protein mutant form results in increased cleavage of CASP3 protein]	26027833
C059514	resveratrol	resveratrol inhibits the reaction [GBA protein mutant form results in increased expression of AIFM1 protein]	26027833
C059514	resveratrol	resveratrol inhibits the reaction [GBA protein mutant form results in increased expression of BAX protein]	26027833
D015474	Isotretinoin	Isotretinoin results in decreased expression of GBA mRNA	15982314
D013467	Sulindac	Sulindac inhibits the reaction [CDKN1A protein results in increased expression of GBA mRNA]	15190207
D014284	Triiodothyronine	Triiodothyronine results in increased activity of GBA protein	9101438
C021751	tanshinone	tanshinone results in increased expression of GBA mRNA	15849732
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of GBA mRNA	21296121
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of GBA mRNA	23152189
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GBA mRNA	21570461
D013755	Tetradecanoylphorbol Acetate	GBA mutant form promotes the reaction [Tetradecanoylphorbol Acetate results in increased expression of IL6 protein]	24951586
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of GBA mRNA	25613284
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of GBA mRNA	28065790
D014212	Tretinoin	Tretinoin metabolite results in decreased expression of GBA mRNA	15982314
C029297	vinylidene chloride	vinylidene chloride results in increased expression of GBA mRNA	26682919
D014800	Vitallium	Vitallium analog results in increased expression of GBA mRNA	23825117

GO/Pathway

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0004348	glucosylceramidase activity	-	IBA	21873635
GO:0004348	glucosylceramidase activity	-	IDA	19279011
GO:0004348	glucosylceramidase activity	-	IMP	21700325 23580063
GO:0005102	signaling receptor binding	-	ISS	18022370
GO:0005124	scavenger receptor binding	-	IPI	25202012
GO:0005515	protein binding	-	IPI	21098288 24162852
GO:0016787	hydrolase activity	-	IBA	21873635

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0006680	glucosylceramide catabolic process	-	IBA	21873635
GO:0006680	glucosylceramide catabolic process	-	IMP	19279011 21700325
GO:0007005	mitochondrion organization	NOT	IMP	25456120
GO:0009267	cellular response to starvation	-	IEA	-
GO:0009268	response to pH	-	IEA	-
GO:0016241	regulation of macroautophagy	-	TAS	26388395
GO:0023021	termination of signal transduction	-	IMP	19279008
GO:0031175	neuron projection development	NOT	IMP	25456120
GO:0032268	regulation of cellular protein metabolic process	-	IMP	25456120
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	-	IEA	-
GO:0032463	negative regulation of protein homooligomerization	-	IDA	26392287
GO:0032715	negative regulation of interleukin-6 production	-	IDA	19279008
GO:0033561	regulation of water loss via skin	-	IEA	-
GO:0033574	response to testosterone	-	IEA	-
GO:0035307	positive regulation of protein dephosphorylation	-	IMP	19279008
GO:0036473	cell death in response to oxidative stress	NOT	IMP	25456120
GO:0043243	positive regulation of protein complex disassembly	-	IDA	26392287
GO:0043407	negative regulation of MAP kinase activity	-	IMP	19279008
GO:0043589	skin morphogenesis	-	IEA	-
GO:0043627	response to estrogen	-	IEA	-
GO:0046512	sphingosine biosynthetic process	-	IMP	19279011
GO:0046513	ceramide biosynthetic process	-	IMP	19279011
GO:0050728	negative regulation of inflammatory response	-	IC	19279008
GO:0051247	positive regulation of protein metabolic process	-	IGI	26392287
GO:0071356	cellular response to tumor necrosis factor	-	IMP	19279008
GO:0071548	response to dexamethasone	-	IEA	-
GO:0097066	response to thyroid hormone	-	IEA	-
GO:1901215	negative regulation of neuron death	-	IGI	26392287
GO:1901805	beta-glucoside catabolic process	-	IEA	-
GO:1903052	positive regulation of proteolysis involved in cellular protein catabolic process	-	IMP	21700325
GO:1903061	positive regulation of protein lipidation	-	IGI	26392287
GO:1904457	positive regulation of neuronal action potential	-	IMP	25456120
GO:1904925	positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization	-	IEA	-
GO:1905037	autophagosome organization	-	IEA	-
GO:1905165	regulation of lysosomal protein catabolic process	-	TAS	25456120

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005764	lysosome	-	IMP	25202012
GO:0005765	lysosomal membrane	-	HDA	17897319
GO:0005765	lysosomal membrane	-	ISS	18022370
GO:0005765	lysosomal membrane	-	TAS	-
GO:0019898	extrinsic component of membrane	-	NAS	25202012
GO:0043202	lysosomal lumen	-	ISS	18022370
GO:0070062	extracellular exosome	-	HDA	23533145

KEGG ID	KEGG Term
hsa00511	Other glycan degradation
hsa00600	Sphingolipid metabolism
hsa01100	Metabolic pathways
hsa04142	Lysosome

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1660662	Glycosphingolipid metabolism	TAS
R-HSA-390466	Chaperonin-mediated protein folding	IEA
R-HSA-390471	Association of TriC/CCT with target proteins during biosynthesis	IEA
R-HSA-391251	Protein folding	IEA
R-HSA-392499	Metabolism of proteins	IEA
R-HSA-428157	Sphingolipid metabolism	TAS
R-HSA-556833	Metabolism of lipids	TAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID	Title (Year)	Author	Journal
27590295	Impulsive-compulsive behaviors in parkin-associated Parkinson disease. (2016 Oct 4)	Morgante F	Neurology
28472425	Prodromal Parkinsonism and Neurodegenerative Risk Stratification in REM Sleep Behavior Disorder. (2017 Aug 1)	Barber TR	Sleep
23055790	Environmental-genetic interactions in the pathogenesis of Parkinson's disease. (2012 Sep)	Tsuboi Y	Exp Neurobiol