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GAA Gene

protein-coding   GIFtS: 71
GCID: GC17P078075

Glucosidase, Alpha; Acid

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glucosidase, Alpha; Acid1 2     Glycogen Storage Disease Type II1
Acid Maltase2 3     Pompe Disease1
Aglucosidase Alfa2 3     LYAG2
EC 3.2.1.203 8     Lysosomal Alpha-Glucosidase2

External Ids:    HGNC: 40651   Entrez Gene: 25482   Ensembl: ENSG000001712987   OMIM: 6068005   UniProtKB: P102533   

Export aliases for GAA gene to outside databases

Previous GC identifers: GC17M077620 GC17P081361 GC17P078637 GC17P078775 GC17P075689 GC17P073516


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GAA Gene:
This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in
lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene
are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive
disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for
this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for GAA Gene:
GAA (glucosidase, alpha; acid) is a protein-coding gene. Diseases associated with GAA include glycogen storage disease due to acid maltase deficiency, infantile onset, and glycogen storage disease ii. GO annotations related to this gene include carbohydrate binding and maltose alpha-glucosidase activity. An important paralog of this gene is SI.

UniProtKB/Swiss-Prot: LYAG_HUMAN, P10253
Function: Essential for the degradation of glygogen to glucose in lysosomes

Gene Wiki entry for GAA (Acid alpha-glucosidase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GAA gene promoter:
         Max1   STAT1   Pax-6   STAT1beta   AP-2gamma   NF-E2 p45   STAT1alpha   PPAR-alpha   NF-E2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAA promoter sequence
   Search Chromatin IP Primers for GAA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GAA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.2-q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.2-q25.3

GAA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GAA gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P078075:  view genomic region     (about GC identifiers)

Start:
78,075,355 bp from pter      End:
78,093,679 bp from pter
Size:
18,325 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LYAG_HUMAN, P10253 (See protein sequence)
Recommended Name: Lysosomal alpha-glucosidase precursor  
Size: 952 amino acids; 105324 Da
Secondary accessions: Q09GN4 Q14351 Q16302 Q8IWE7

Explore the universe of human proteins at neXtProt for GAA: NX_P10253

Explore proteomics data for GAA at MOPED

Post-translational modifications: 

  • The different forms of acid glucosidase are obtained by proteolytic processing1
  • Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose
    6-phosphate receptor1
  • Glycosylation2 at Ser46, Thr52, Ser61, Asn140, Asn233, Asn390, Asn470, Asn652, Asn882, Asn925
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GAA (P10253) (see all 19)
     PTFFPKD  YGSHPFY  PFMRNHN  TINVHLR 


    See GAA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000143.2  NP_001073271.1  NP_001073272.1  

    ENSEMBL proteins: 
     ENSP00000460543   ENSP00000458306   ENSP00000374665   ENSP00000305692   ENSP00000459972  

    GAA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins for GAA
    OriGene Protein Over-expression Lysate for GAA
    OriGene MassSpec for GAA
    OriGene Custom Protein Services for GAA
    GenScript Custom Purified and Recombinant Proteins Services for GAA
    Novus Biologicals GAA Proteins
    Novus Biologicals GAA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    GAA Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GAA
    Browse R&D Systems for Antibodies
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    Novus Biologicals GAA Antibodies
    Abcam antibodies for GAA
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for GAA
    LSBio Antibodies in human, mouse, rat for GAA

    GAA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GAA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GAA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR000519 P_trefoil
     IPR017853 Glycoside_hydrolase_SF
     IPR017957 P_trefoil_CS
     IPR000322 Glyco_hydro_31
     IPR011013 Gal_mutarotase_SF_dom

    Graphical View of Domain Structure for InterPro Entry P10253

    ProtoNet protein and cluster: P10253

    2 Blocks protein domains:
    IPB000322 Glycoside hydrolase
    IPB000519 P-type trefoil domain


    UniProtKB/Swiss-Prot: LYAG_HUMAN, P10253
    Similarity: Belongs to the glycosyl hydrolase 31 family
    Similarity: Contains 1 P-type (trefoil) domain


    GAA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LYAG_HUMAN, P10253
    Function: Essential for the degradation of glygogen to glucose in lysosomes
    Catalytic activity: Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of
    alpha-D-glucose

         Genatlas biochemistry entry for GAA:
    glucosidase,alpha-,acid,lysosomal,catalyzing the hydrolysis of alpha 1,4 and alpha 1,6-glucosidic linkages of
    glycogen

         Enzyme Number (IUBMB): EC 3.2.1.201 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004558alpha-glucosidase activity IDA9505277
    GO:0030246carbohydrate binding IEA--
    GO:0032450maltose alpha-glucosidase activity IEA--
         
    GAA for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GAA:
     Increased S DNA content  Upregulation of Wnt/beta-caten 

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Gaa):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  homeostasis/metabolism 
     muscle  skeleton 

    GAA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GAA: Gaatm1Vdp Gaatm1.1Rabn Gaatm1Rabn Gaatm2Rabn

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GAA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GAA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GAA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GAA

    miRNA
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    Block miRNA regulation of human, mouse, rat GAA using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GAA:
    hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidGAA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GAA
    Predesigned siRNA for gene silencing in human, mouse, rat GAA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GAA

    Clone
    Products:
         
    OriGene clones in human, mouse for GAA (see all 17)
    OriGene ORF clones in mouse, rat for GAA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): GAA (NM_000152)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GAA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAA

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for GAA
    Browse ESI BIO Cell Lines and PureStem Progenitors for GAA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LYAG_HUMAN, P10253: Lysosome. Lysosome membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    golgi apparatus2
    plasma membrane2
    endoplasmic reticulum1
    endosome1
    extracellular1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA9505277
    GO:0005765lysosomal membrane IDA17897319
    GO:0070062extracellular vesicular exosome IDA19056867

    GAA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GAA About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Galactose metabolism
    Galactose metabolism0.44
    2Glucuronidation
    Starch and sucrose metabolism0.41
    3Metabolism
    Metabolic pathways0.38
    4Immune response Fc epsilon RI pathway
    VEGF - VEGF R2 Signaling Pathways0.35
    5Notch-mediated HES/HEY network
    Notch-mediated HES/HEY network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GAA
        VEGF - VEGF R2 Signaling Pathways


    1 BioSystems Pathway for GAA
        Notch-mediated HES/HEY network


    4 Kegg Pathways  (Kegg details for GAA):
        Galactose metabolism
    Starch and sucrose metabolism
    Metabolic pathways
    Lysosome


    GAA for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GAA: 
              Autophagy in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GAA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GAA (P102532, 3 ENSP000003056924) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCF1P145983, ENSP000002894734I2D: score=1 STRING: ENSP00000289473
    SLC2A4P146723I2D: score=1 
    AGLENSP000002947244STRING: ENSP00000294724
    GLAENSP000002185164STRING: ENSP00000218516
    SIENSP000002643824STRING: ENSP00000264382
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000023maltose metabolic process IC9505277
    GO:0002026regulation of the force of heart contraction IEA--
    GO:0002086diaphragm contraction IMP16917947
    GO:0003007heart morphogenesis ----
    GO:0005975carbohydrate metabolic process ----

    GAA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GAA available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KifunensineInhibitor of class I alpha-mannosidases[109944-15-2]
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[73465-43-7]
    Miglitolalpha-glucosidase inhibitor[72432-03-2]
    OGT 2115Antiangiogenic. Heparanase inhibitor[853929-59-6]

    9 HMDB Compounds for GAA    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    D-FructoseBeta-d-arabino-hexulose (see all 16)53188-23-1--
    D-Galactose(+)-Galactose (see all 14)59-23-4--
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    D-Maltosealpha-Malt sugar (see all 40)69-79-4--
    Melibiose6-(D-galactosido)-D-glucose (see all 17)585-99-9--
    Sucrose(+)-Sucrose (see all 11)57-50-1--
    Uridine diphosphate glucose(UPD)-glucose (see all 24)133-89-1--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 DrugBank Compounds for GAA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Acarbose-- 56180-94-0targetinhibitor16763908 3539207 3467980 15292070 1594557 11752352 16702880 11404235
    Miglitol-- 72432-03-2targetantagonist19818342 19085811

    Selected Novoseek inferred chemical compound relationships for GAA gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 91 334 15922959 (4), 15993875 (4), 16987711 (3), 18176891 (3) (see all 99)
    mannose 6-phosphate 79.7 15 15839836 (2), 11268285 (1), 19277015 (1), 15520017 (1) (see all 10)
    acarbose 68.5 14 16702880 (2), 20033296 (2), 20441705 (1), 16702881 (1) (see all 10)
    saci 51 3 7945303 (1), 1970872 (1)
    maltotetraose 49.8 2 2256108 (2)
    miglustat 47.1 7 17213836 (1)
    isomaltose 43.5 2 2256108 (2)
    carnitine 35.2 4 10331465 (1), 8257975 (1)
    mannose 34.6 2 15383547 (1), 1991835 (1)
    maltose 30.4 5 2256108 (2), 16702880 (2), 15313146 (1)



    GAA for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GAA gene (3 alternative transcripts): 
    NM_000152.3  NM_001079803.1  NM_001079804.1  

    Unigene Cluster for GAA:

    Glucosidase, alpha; acid
    Hs.1437  [show with all ESTs]
    Unigene Representative Sequence: NM_000152
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000570803 ENST00000577106 ENST00000390015(uc002jxo.3 uc002jxq.3)
    ENST00000574376 ENST00000302262(uc002jxp.3) ENST00000572080 ENST00000572803
    ENST00000570716 ENST00000573556
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate GAA:
    hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidGAA 3' UTR sequence
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): GAA (NM_000152)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GAA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAA
    Primer
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    OriGene qPCR primer pairs and template standards for GAA
    OriGene qSTAR qPCR primer pairs in human, mouse for GAA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GAA
      QuantiTect SYBR Green Assays in human, mouse, rat GAA
      QuantiFast Probe-based Assays in human, mouse, rat GAA

    Additional mRNA sequence: 

    AK299462.1 BC015908.1 BC040431.1 BC065262.1 BC113831.1 DQ907243.1 M34424.1 S76893.1 
    Y00839.1 

    13 DOTS entries:

    DT.40106107  DT.446486  DT.95214327  DT.100829308  DT.97800364  DT.100766056  DT.100797310  DT.91749846 
    DT.99965597  DT.100797311  DT.121625835  DT.95214329  DT.92476036 

    Selected AceView cDNA sequences (see all 280):

    CR617840 BU630327 AL043559 BF725755 BC065262 BI962528 AI797181 CD370886 
    BQ711289 BU151485 BU684614 CO249323 AI374996 BQ687169 BX355818 CR602301 
    AI818623 CA428696 BQ013827 CA946329 CB529362 BU527968 BX357745 BX376791 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GAA (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b · 17c ^ 18 ^
    SP1:              -                                                                             -                 -                       -                     
    SP2:                                                                                            -                 -                       -                     
    SP3:                                                                                                                                      -                     
    SP4:                                                                                                              -                                             
    SP5:              -     -                                                                                                                                       

    ExUns: 19 ^ 20 ^ 21
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for GAA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GAA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGGTAGTAT
    GAA Expression
    About this image


    GAA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Endochondral Facial Bones
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Cartilage (Muscoskeletal System)
             Meckel's Cartilage
     
     Neural Tube (Nervous System)
             Metencephalon
    GAA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GAA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1437
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GAA: 
              Autophagy in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GAA
    OriGene qSTAR qPCR primer pairs in human, mouse for GAA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GAA
    QuantiTect SYBR Green Assays in human, mouse, rat GAA
    QuantiFast Probe-based Assays in human, mouse, rat GAA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GAA gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gaa1 , 5 glucosidase, alpha, acid1, 5 80.93(n)1
    80.34(a)1
      11 (83.35 cM)5
    143871  NM_008064.31  NP_032090.31 
     1192678875 
    chicken
    (Gallus gallus)
    Aves LOC4220821 lysosomal alpha-glucosidase-like 74.06(n)
    71.18(a)
      422082  XM_420085.4  XP_420085.4 
    lizard
    (Anolis carolinensis)
    Reptilia GAA6
    glucosidase, alpha; acid
    70(a)
    1 ↔ 1
    2(100596073-100619591)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB185105.12   -- 77.33(n)    CB185105.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gaa1 glucosidase, alpha; acid (Pompe disease, glycogen storage more 60.83(n)
    58.17(a)
      100002366  XM_001921922.2  XP_001921957.2 
    worm
    (Caenorhabditis elegans)
    Secernentea D2096.33   -- 36(a)
    (best of 3)
      IV(8363651-8375533)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G459401 AT3G45940 48.65(n)
    42.46(a)
      823737  NM_114463.1  NP_190180.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g01304001 Os01g0130400 54.62(n)
    42.94(a)
      4325976  NM_001048457.1  NP_001041922.1 


    ENSEMBL Gene Tree for GAA (if available)
    TreeFam Gene Tree for GAA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GAA gene
    SI2  MGAM2  GANC2  GANAB2  LOC934322  
    2 SIMAP similar genes for GAA using alignment to 4 protein entries:     LYAG_HUMAN (see all proteins):
    SI    MGAM

    GAA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    LYAG_HUMAN, P10253: There are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele
    GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer


    Selected SNPs for GAA (see all 925)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2018968151,2,,4
    Glycogen storage disease 2 (GSD2)4 --78081447(+) TCGCCA/GAGCAC 6 K E mis10--------
    rs289379091,2,,4
    CGlycogen storage disease 2 (GSD2)4 pathogenic178086713(+) TGGTCA/GGGGCC 6 R G mis10--------
    rs289408681,2,,4
    CGlycogen storage disease 2 (GSD2)4 pathogenic178086721(+) GCCGAA/CGTCTG 6 E D mis1 ese30--------
    VAR_0686204
    Glycogen storage disease 2 (GSD2)4--see VAR_0686202 S P mis40--------
    VAR_0685954
    Glycogen storage disease 2 (GSD2)4--see VAR_0685952 D V mis40--------
    VAR_0685904
    Glycogen storage disease 2 (GSD2)4--see VAR_0685902 G R mis40--------
    VAR_0290394
    Glycogen storage disease 2 (GSD2)4--see VAR_0290392 L Q mis40--------
    VAR_0290324
    Glycogen storage disease 2 (GSD2)4--see VAR_0290322 G R mis40--------
    VAR_0180874
    Glycogen storage disease 2 (GSD2)4--see VAR_0180872 C R mis40--------
    VAR_0180884
    Glycogen storage disease 2 (GSD2)4--see VAR_0180882 L P mis40--------

    HapMap Linkage Disequilibrium report for GAA (78075355 - 78093679 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GAA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833562CNV Loss17160897
    nsv469591CNV Loss16826518
    nsv908972CNV Loss21882294
    nsv833561CNV Loss17160897
    nsv9596CNV Gain18304495

    Human Gene Mutation Database (HGMD): GAA
    Locus Specific Mutation Databases (LSDB): GAA

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GAA
    DNA2.0 Custom Variant and Variant Library Synthesis for GAA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606800   
    OMIM disorders: 232300  
    UniProtKB/Swiss-Prot: LYAG_HUMAN, P10253
  • Glycogen storage disease 2 (GSD2) [MIM:232300]: A metabolic disorder with a broad clinical spectrum. The
    severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart
    and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is
    less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the
    lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of
    clinical symptoms for most of their life but finally develop a slowly progressive myopathy. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for GAA (see all 46):    
    About MalaCards
    glycogen storage disease due to acid maltase deficiency, infantile onset    glycogen storage disease ii    glycogen storage disease due to acid maltase deficiency, adult onset    glycogen storage disease due to acid maltase deficiency, juvenile onset
    glycogen storage disease    x-linked myopathy with excessive autophagy    rigid spine syndrome    danon disease
    carotid artery dissection    rippling muscle disease    vacuolar myopathy    respiratory failure
    krabbe disease    neuromuscular disease    dysphagia    sleep disorder
    lysosomal storage disease    polymyositis    motor neuron disease    dermatomyositis

    10 diseases from the University of Copenhagen DISEASES database for GAA:
    Glycogen storage disease     Danon disease     Fabry disease     Myopathy
    Gaucher's disease     Hypertrophic cardiomyopathy     Mucopolysaccharidosis     Krabbe disease
    Carotid artery dissection     Respiratory failure

    GAA for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for GAA gene (see all 44)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pompe disease 99.4 700 2112630 (5), 12467732 (5), 18703766 (4), 18176891 (4) (see all 99)
    glycogen storage disease 88.4 23 9382133 (2), 8577057 (2), 9694159 (1), 10331465 (1) (see all 19)
    myopathy 86.1 65 10658172 (2), 11268285 (2), 1895140 (1), 1915449 (1) (see all 43)
    danon disease 85.7 6 16640643 (1), 16901453 (1), 7699392 (1), 17541230 (1) (see all 6)
    infantile glycogen storage disease type ii 83.4 3 11286229 (1), 8884087 (1)
    glycogen storage disease type iv 77.8 5 10331465 (1), 10658172 (1), 8795843 (1), 15038665 (1)
    rigid spine syndrome 77.3 3 9052818 (1), 7719139 (1), 16531044 (1)
    enzyme deficiency 77 9 10658172 (1), 20464284 (1), 11268285 (1), 18425781 (1) (see all 8)
    lysosomal storage diseases 74.1 15 11949932 (1), 11991748 (1), 15668445 (1), 17924344 (1) (see all 8)
    respiratory failure 72.7 13 11591850 (2), 18176891 (2), 2112630 (1), 14592241 (1) (see all 9)

    GeneTests: GAA
    GeneReviews: GAA
    Genetic Association Database (GAD): GAA
    Human Genome Epidemiology (HuGE) Navigator: GAA (27 documents)

    Export disorders for GAA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GAA gene, integrated from 10 sources (see all 358):
    (articles sorted by number of sources associating them with GAA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. (PubMed id 20080426)1, 2, 4, 9 Labrousse P.... Hwu W.L. (Mol. Genet. Metab. 2010)
    2. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. (PubMed id 7717400)1, 2, 4, 9 Boerkoel C.F.... Raben N. (Am. J. Hum. Genet. 1995)
    3. Sequence of the cDNA and 5'-flanking region for human acid alpha- glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. (PubMed id 2111708)1, 2, 9 Martiniuk F.... Hirschhorn R. (DNA Cell Biol. 1990)
    4. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. (PubMed id 14695532)1, 2, 9 Hermans M.M.P.... Reuser A.J.J. (Hum. Mutat. 2004)
    5. Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype. (PubMed id 8834250)1, 2, 9 Tsunoda H....Martiniuk F. (Hum. Genet. 1996)
    6. The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (Pro545Leu) on the expression of lysosomal alpha- glucosidase in patients with glycogen storage disease type II. (PubMed id 7881422)1, 2, 9 Hermans M.M.P.... Reuser A.J.J. (Hum. Mol. Genet. 1994)
    7. The conservative substitution Asp-645-->Glu in lysosomal alpha- glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. (PubMed id 8094613)1, 2, 9 Hermans M.M.P.... Reuser A.J.J. (Biochem. J. 1993)
    8. Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells. (PubMed id 2203258)1, 2, 9 Martiniuk F.... Hirschhorn R. (Am. J. Hum. Genet. 1990)
    9. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. (PubMed id 16917947)1, 2, 9 Montalvo A.L.... Pittis M.G. (Hum. Mutat. 2006)
    10. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. (PubMed id 10737124)1, 2, 9 Vorgerd M.... Kilimann M.W. (Neurogenetics 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2548 HGNC: 4065 AceView: GAA Ensembl:ENSG00000171298 euGenes: HUgn2548
    ECgene: GAA Kegg: 2548 H-InvDB: GAA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GAA Pharmacogenomics, SNPs, Pathways
    GAAhttp://cluster15.erasmusmc.nl/klgn/pompe/mutations.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GAA[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Alpha-glucosidase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GAA gene:
    Search GeneIP for patents involving GAA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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