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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GAA Gene

protein-coding   GIFtS: 71
GCID: GC17P078075

Glucosidase, Alpha; Acid

Microbiology & Infectious Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 ii, and glycogen storage disease due to acid maltase deficiency, infantile onset, and among its related super-pathways are Galactose metabolism and Glucuronidation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GAA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LYAG_HUMAN, P10253 (See protein sequence)
Recommended Name: Lysosomal alpha-glucosidase precursor  
Size: 952 amino acids; 105324 Da
Subcellular location: Lysosome. Lysosome membrane
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:

  • UniProtKB: The different forms of acid glucosidase are obtained by proteolytic processing
  • UniProtKB: Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose
    6-phosphate receptor
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10253

  • 4/19 DME Specific Peptides for GAA (P10253) (see all 19)
     PTFFPKD  YGSHPFY  PFMRNHN  TINVHLR 

    GAA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000460543   ENSP00000458306   ENSP00000374665   ENSP00000305692   ENSP00000459972  

    Human Recombinant Protein Products for GAA: 
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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. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA9505277
    GO:0005765lysosomal membrane IDA17897319

    GAA for ontologies           About GeneDecksing



    GAA Antibody Products: 
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    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for GAA
    LSBio Antibodies in human, mouse, rat for GAA 

    Assay Products for GAA: 
    Browse Kits and Assays available from EMD Millipore
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    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)
    About This Section
    5/6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  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 - Custom generated mouse model solutions for GAA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GAA
    1 QIAGEN miScript miRNA Assays for microRNA that regulate GAA:
    hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidGAA 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    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
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAA


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GAA About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Galactose metabolism
    Galactose metabolism0.46
    2Glucuronidation
    Starch and sucrose metabolism0.41
    3Metabolism
    Metabolic pathways0.40
    4Development VEGF signaling via VEGFR2 - generic cascades
    VEGF - VEGF R2 Signaling Pathways 0.39
    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GAA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/12 Interacting proteins for GAA (P102532, 3 ENSP000003056924) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    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): 5/21 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GAA for compounds           About GeneDecksing

    EMD Millipore small molecules for GAA:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/24 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)

    Search CenterWatch for drugs/clinical trials and news about GAA / LYAG

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate GAA:
    hsa-miR-4325
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): GAA (NM_000152)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAA
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      QIAGEN 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 

    24/280 AceView cDNA sequences (see all 280):

    BM126630 BI962528 BM765790 BX357745 CA946329 BX355818 BQ711289 BU630327 
    CA428696 BC040431 CA306511 CD557081 BQ687169 AI818623 CD370886 BC065262 
    CO249323 BX357744 CR617840 BF725755 BF206270 BQ013827 CK906333 BU527968 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GAA expression in normal human tissues (normalized intensities)      GAA embryonic expression: see
    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 
     5/30 selected tissues (see all 30) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Globus Pallidus
             Olfactory Bulb   
     
     Bone (Muscoskeletal System)    fully expand to see all 11 entries
             Endochondral Facial Bones
             skeleton/pectoral girdle and thoracic body wall/scapula   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 7 entries
             Meckel's Cartilage
             skeleton/cranium/chondrocranium   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
             skeleton/cranium/chondrocranium   
     
     Breast (Uncategorized)    fully expand to see all 4 entries
             breast ; myoepithelial cells   
             breast lobular cells   

    See GAA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GAA

    SOURCE GeneReport for Unigene cluster: Hs.1437
        SABiosciences Expression via Pathway-Focused PCR Arrays including GAA: 
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GAA gene from 8/19 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 80.97(n)1
    80.44(a)1
      11 (83.35 cM)5
    143871  NM_001159324.11  NP_001152796.11 
     1192678875 
    chicken
    (Gallus gallus)
    Aves LOC4220821 lysosomal alpha-glucosidase-like 74.11(n)
    71.28(a)
      422082  XM_420085.3  XP_420085.3 
    lizard
    (Anolis carolinensis)
    Reptilia GAA6
    Uncharacterized protein
    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 61.22(n)
    58.59(a)
      100002366  XM_001921922.1  XP_001921957.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ROT26
    Glucosidase II catalytic subunit required for norm...
    22(a)
    1 → many
    II(676357-679221)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G459401 alpha-glucosidase 48.62(n)
    42.1(a)
      823737  NM_114463.1  NP_190180.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g01304001 hypothetical protein 55.07(n)
    43.47(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)
    About This Section
    Paralogs for GAA gene
    SI2  MGAM2  GANC2  ENSG000002577432  GANAB2  
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: LYAG_HUMAN, P10253
    Polymorphism: 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


    10/922 SNPs in GAA are shown (see all 922)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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--------
    VAR_0042914
    Glycogen storage disease 2 (GSD2)4--see VAR_0042912 G R mis40--------
    VAR_0180834
    Glycogen storage disease 2 (GSD2)4--see VAR_0180832 H P mis40--------
    VAR_0180794
    Glycogen storage disease 2 (GSD2)4--see VAR_0180792 G R 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/45 diseases for GAA (see all 45):    About MalaCards
    glycogen storage disease ii    glycogen storage disease due to acid maltase deficiency, infantile onset    glycogen storage disease due to acid maltase deficiency, adult onset    glycogen storage disease due to acid maltase deficiency, juvenile onset
    respiratory failure    danon disease    rigid spine syndrome    x-linked myopathy with excessive autophagy
    glycogen storage disease    vacuolar myopathy    rippling muscle disease    carotid artery dissection
    krabbe disease    dysphagia    muscle disorders    sleep disorder
    neuromuscular disease    polymyositis    lysosomal storage 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

    10/44 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)
    About This Section

    PubMed articles for GAA gene, integrated from 9 sources (see all 352):
    (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 Po mpe disease newborn screening pilot program. (PubMed id 20080426)1, 2, 4, 9 Labrousse P....Hwu W.L. (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. (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. (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. (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. (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. (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. (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. (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. (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. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2548 HGNC: 4065 AceView: GAA Ensembl:ENSG00000171298 euGenes: HUgn2548
    ECgene: GAA Kegg: 2548 H-InvDB: GAA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GAA Pharmacogenomics, SNPs, Pathways
    GAAhttp://cluster15.erasmusmc.nl/klgn/pompe/mutations.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GAA
    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.)
    About This Section
    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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