Gene info: ID 2548

Gene: GAA

GENE ID: 2548

Synonyms: LYAG

Description: glucosidase alpha, acid

Gene type: protein-coding

Location: 17q25.3

dbXrefs: Ensembl:ENSG00000171298 MIM:606800 Vega:OTTHUMG00000177537 UniprotKB:P10253

RefSeq: NG_009822.1

Retrived from: PubMed

SNPs: 0 ANCO-SNPs

Phenotype: ND

# Publications: 5

Sherlock p-value : 7.476e-1 (AD) 5.775e-1 (ND) (Frontal_Cortex)

Pascal p-value : 3.856e-1 (AD) 7.911e-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
LMF2	0.916
ATP13A1	0.907
CC2D1A	0.905
HDAC6	0.902
ZNF76	0.897
ARSA	0.897
UNC45A	0.895
ANAPC2	0.894
TMEM175	0.893
MOGS	0.893

Top 10 negatively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
OR4F5	-0.633
OR4F29	-0.574
MTRNR2L9	-0.321
MTRNR2L6	-0.316
MTRNR2L10	-0.294
OR6C74	-0.274
HMHB1	-0.263
TTLL10-AS1	-0.253
C9orf153	-0.253
KLRB1	-0.245

ID	Drug Name	Drug Type	CAS Num	Status	Role
DB00284	Acarbose	Small Molecule	56180-94-0	Approved\|Investigational	Target
DB00491	Miglitol	Small Molecule	72432-03-2	Approved	Target
DB05200	AT2220	Small Molecule	-	Investigational	Target

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of GAA mRNA"	25510870
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	"2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of GAA mRNA"	19114083
C081766	2,4,4'-trichlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of GAA mRNA"	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of GAA mRNA"	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of GAA mRNA"	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of GAA mRNA"	25510870
C023514	2,6-dinitrotoluene	"2,6-dinitrotoluene affects the expression of GAA mRNA"	21346803
C035207	4-amino-2,6-dinitrotoluene	"4-amino-2,6-dinitrotoluene affects the expression of GAA mRNA"	21346803
C065250	4-hydroxy-equilenin	4-hydroxy-equilenin results in increased expression of GAA mRNA	15135645
C014110	4-methylumbelliferyl glucoside	GAA gene SNP inhibits the reaction [GAA protein results in increased metabolism of 4-methylumbelliferyl glucoside]	21963784\|2196378
C014110	4-methylumbelliferyl glucoside	GAA protein results in increased metabolism of 4-methylumbelliferyl glucoside	21963784
D000082	Acetaminophen	[Dietary Carbohydrates co-treated with Acetaminophen] results in increased expression of GAA mRNA	17093179
D000082	Acetaminophen	Acetaminophen affects the expression of GAA mRNA	17562736
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of GAA mRNA	26377693
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of GAA mRNA	27195522
D004958	Estradiol	Estradiol results in increased expression of GAA mRNA	16705744
C006780	bisphenol A	bisphenol A results in increased expression of GAA mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of GAA gene	28505145
D002104	Cadmium	Cadmium results in increased expression of GAA mRNA	24376830
D019256	Cadmium Chloride	Cadmium Chloride affects the methylation of GAA promoter	22457795
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of GAA mRNA	23650126
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of GAA mRNA	18178546
C018021	cobaltous chloride	cobaltous chloride results in increased expression of GAA mRNA	24386269
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of GAA mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of GAA mRNA	27392435
D004040	Dietary Carbohydrates	[Dietary Carbohydrates co-treated with Acetaminophen] results in increased expression of GAA mRNA	17093179
D004041	Dietary Fats	Dietary Fats results in decreased expression of GAA mRNA	18042831
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of GAA mRNA	22079256
D018120	Finasteride	Finasteride results in increased expression of GAA mRNA	24136188
D015073	2-Acetylaminofluorene	2-Acetylaminofluorene results in increased expression of GAA mRNA	17317680
D005485	Flutamide	Flutamide results in increased expression of GAA mRNA	24136188
D019833	Genistein	Genistein results in increased expression of GAA mRNA	16705744
D005839	Gentamicins	Gentamicins results in increased expression of GAA mRNA	22061828
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of GAA mRNA	20044591
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of GAA mRNA	27392435
C544151	jinfukang	jinfukang results in increased expression of GAA mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of GAA mRNA	26752646
C008261	lead acetate	lead acetate results in increased expression of GAA mRNA	11578147
C045463	leflunomide	leflunomide results in increased expression of GAA mRNA	24136188
D018817	N-Methyl-3,4-methylenedioxyamphetamine	"N-Methyl-3,4-methylenedioxyamphetamine affects the methylation of GAA promoter"	26251327
D018817	N-Methyl-3,4-methylenedioxyamphetamine	"N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of GAA mRNA"	26251327
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of GAA protein	26558463
C568376	MT19c compound	MT19c compound results in decreased expression of GAA mRNA	21781307
D037742	Nanotubes, Carbon	"Nanotubes, Carbon analog results in decreased expression of GAA mRNA"	25554681
D037742	Nanotubes, Carbon	"Nanotubes, Carbon results in decreased expression of GAA mRNA"	25554681\|2562005
C051752	nefazodone	nefazodone results in increased expression of GAA mRNA	24136188
C028007	nickel monoxide	nickel monoxide results in increased expression of GAA mRNA	19167457
C012655	nimesulide	nimesulide results in increased expression of GAA mRNA	24136188
D000073878	Palm Oil	Palm Oil results in decreased expression of GAA mRNA	18042831
C410127	PCB 180	"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of GAA mRNA"	25510870
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid affects the expression of GAA mRNA	19429403
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of GAA protein	26178269
C023036	perfluorooctanoic acid	perfluorooctanoic acid affects the expression of GAA mRNA	19429403
D010634	Phenobarbital	Phenobarbital results in increased expression of GAA mRNA	19162173
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of GAA mRNA	15728792
D010882	Piperonyl Butoxide	Piperonyl Butoxide results in increased expression of GAA mRNA	22484513
C006253	pirinixic acid	pirinixic acid results in increased expression of GAA mRNA	18301758\|2381119
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of GAA mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of GAA mRNA	22079256
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of GAA mRNA	19162173
D011374	Progesterone	Progesterone results in decreased expression of GAA mRNA	20631399
D011794	Quercetin	Quercetin results in increased expression of GAA mRNA	21632981
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of GAA mRNA	25895662
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in increased expression of GAA protein	27239688
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GAA mRNA	21570461
C406224	valdecoxib	valdecoxib results in increased expression of GAA mRNA	24136188
D014635	Valproic Acid	Valproic Acid results in increased methylation of GAA gene	29154799
C025643	vinclozolin	vinclozolin results in decreased expression of GAA mRNA	18042343
D024483	Vitamin K 3	Vitamin K 3 affects the expression of GAA mRNA	20044591
C102817	voglibose	voglibose results in decreased activity of GAA protein	12560160

GO/Pathway

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0004558	alpha-1,4-glucosidase activity	-	IDA	9505277 29061980
GO:0030246	carbohydrate binding	-	IEA	-
GO:0032450	maltose alpha-glucosidase activity	-	IEA	-
GO:0090599	alpha-glucosidase activity	-	EXP	5264799

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0000023	maltose metabolic process	-	IC	9505277
GO:0002026	regulation of the force of heart contraction	-	IEA	-
GO:0002086	diaphragm contraction	-	IMP	16917947
GO:0003007	heart morphogenesis	-	IEA	-
GO:0005980	glycogen catabolic process	-	IDA	9505277 29061980
GO:0005980	glycogen catabolic process	-	TAS	-
GO:0005985	sucrose metabolic process	-	IC	9505277
GO:0006006	glucose metabolic process	-	IC	9505277
GO:0007040	lysosome organization	-	IMP	7717400
GO:0007626	locomotory behavior	-	IEA	-
GO:0009888	tissue development	-	IEA	-
GO:0043181	vacuolar sequestering	-	IMP	10931430
GO:0043312	neutrophil degranulation	-	TAS	-
GO:0046716	muscle cell cellular homeostasis	-	IEA	-
GO:0050884	neuromuscular process controlling posture	-	IEA	-
GO:0050885	neuromuscular process controlling balance	-	IEA	-
GO:0060048	cardiac muscle contraction	-	IMP	10931430

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005764	lysosome	-	IDA	9505277
GO:0005765	lysosomal membrane	-	HDA	17897319
GO:0005886	plasma membrane	-	TAS	-
GO:0016020	membrane	-	HDA	19946888
GO:0035577	azurophil granule membrane	-	TAS	-
GO:0043202	lysosomal lumen	-	TAS	-
GO:0070062	extracellular exosome	-	HDA	19056867 23533145
GO:0070821	tertiary granule membrane	-	TAS	-
GO:0101003	ficolin-1-rich granule membrane	-	TAS	-

KEGG ID	KEGG Term
hsa00052	Galactose metabolism
hsa00500	Starch and sucrose metabolism
hsa01100	Metabolic pathways
hsa04142	Lysosome

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1643685	Disease	TAS
R-HSA-168249	Innate Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-3229121	Glycogen storage diseases	TAS
R-HSA-5357609	Glycogen storage disease type II (GAA)	TAS
R-HSA-5663084	Diseases of carbohydrate metabolism	TAS
R-HSA-5668914	Diseases of metabolism	TAS
R-HSA-6798695	Neutrophil degranulation	TAS
R-HSA-70221	Glycogen breakdown (glycogenolysis)	TAS
R-HSA-71387	Metabolism of carbohydrates	TAS
R-HSA-8982491	Glycogen metabolism	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
21159183	p53 in head and neck cancer: functional consequences and environmental implications of TP53 mutations. (2010 Dec 15)	Peltonen JK	Head Neck Oncol
18782274	Gene-environment interaction between MBL2 genotype and smoking, and the risk of gram-positive bacteraemia. (2008 Oct)	Huttunen R	Scand J Immunol
23226559	Impacts of CA9 gene polymorphisms and environmental factors on oral-cancer susceptibility and clinicopathologic characteristics in Taiwan. (2012)	Chien MH	PLoS One
26580301	Altered expression of lysosomal hydrolase, acid alpha-glucosidase, gene in coronary artery disease. (2016 Mar)	Zhang J	Coron Artery Dis
19494730	Subjective improvement in proprioception in 2 patients with atypical Friedreich ataxia treated with varenicline (Chantix). (2009 Jun)	Zesiewicz TA	J Clin Neuromuscul Dis