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MGAM Gene

protein-coding   GIFtS: 58
GCID: GC07P141607

Maltase-Glucoamylase (Alpha-Glucosidase)

Microbiology & Infectious Diseases Congress
  See related diseases
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(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
Maltase-Glucoamylase (Alpha-Glucosidase)1 2     Maltase-Glucoamylase, Intestinal2
MGA2 3 5     MGAML3
MG2     EC 3.2.1.208
Brush Border Hydrolase2     

External Ids:    HGNC: 70431   Entrez Gene: 89722   Ensembl: ENSG000002573357   OMIM: 1543605   UniProtKB: O434513   

Export aliases for MGAM gene to outside databases

Previous GC identifers: GC07P139967 GC07P140976 GC07P141102 GC07P141148 GC07P141342 GC07P135992


(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 MGAM Gene:
This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final
steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but
the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of
substrate specificities. (provided by RefSeq, Jul 2008)

GeneCards Summary for MGAM Gene:
MGAM (maltase-glucoamylase (alpha-glucosidase)) is a protein-coding gene. Diseases associated with MGAM include glycogen storage disease ii, and protein-energy malnutrition. 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: MGA_HUMAN, O43451
Function: May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced
because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides
used in food manufacturing

Gene Wiki entry for MGAM (Maltase-glucoamylase) 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_000007.14  NT_007933.16  NC_018918.2  NT_187562.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the MGAM gene promoter:
         AML1a   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MGAM promoter sequence
   Search Chromatin IP Primers for MGAM

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


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

Entrez Gene cytogenetic band: 7q34   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P141607:  view genomic region     (about GC identifiers)

Start:
141,607,613 bp from pter      End:
141,806,547 bp from pter
Size:
198,935 bases      Orientation:
plus strand

2 alternative locations:
Chr7+,NW_003571040 137,830-248,698      Chr7+,CRA_TCAG 141,033,874-141,144,746     

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MGA_HUMAN, O43451 (See protein sequence)
Recommended Name: Maltase-glucoamylase, intestinal  
Size: 1857 amino acids; 209852 Da
Subunit: Monomer
Selected PDB 3D structures from and Proteopedia for MGAM (see all 12):
2QLY (3D)        2QMJ (3D)        3CTT (3D)        3L4T (3D)        3L4U (3D)        3L4V (3D)    
Secondary accessions: Q0VAX6 Q75ME7 Q86UM5

Explore the universe of human proteins at neXtProt for MGAM: NX_O43451

Explore proteomics data for MGAM at MOPED

Post-translational modifications: 

  • N- and O-glycosylated1
  • Does not undergo intracellular or extracellular proteolytic cleavage1
  • Sulfated (By similarity)1
  • Glycosylation2 at Asn135, Asn295, Asn457, Asn458, Asn479, Asn707, Asn749, Asn827, Asn885, Asn912,
                                 Asn977, Asn989, Asn1255, Asn1323, Asn1364, Asn1388, Asn1603, Asn1672, Asn1842, Asn1847
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for MGAM (O43451)
     GADICGF  LLPYLYTL 


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

    REFSEQ proteins: NP_004659.2  
    ENSEMBL proteins: 
     ENSP00000419372   ENSP00000447378   ENSP00000417103   ENSP00000417515  
    Reactome Protein details: O43451

    MGAM Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     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 O43451

    ProtoNet protein and cluster: O43451

    1 Blocks protein domain: IPB000519 P-type trefoil domain

    UniProtKB/Swiss-Prot: MGA_HUMAN, O43451
    Similarity: Belongs to the glycosyl hydrolase 31 family
    Similarity: Contains 2 P-type (trefoil) domains


    MGAM 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: MGA_HUMAN, O43451
    Function: May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced
    because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides
    used in food manufacturing
    Catalytic activity: Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of
    alpha-D-glucose
    Catalytic activity: Hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing
    ends of the chains with release of beta-D-glucose

         Genatlas biochemistry entry for MGAM:
    maltase-glucoamylase,alpha-glucosidase,expressed in the small intestine,member of the glucosyl hydrolase family
    31,playing a unique role in the digestion of malted dietary oligosaccharides

         Enzyme Number (IUBMB): EC 3.2.1.202

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity TAS9446624
    GO:0004339glucan 1,4-alpha-glucosidase activity IEA--
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004558alpha-glucosidase activity TAS--
    GO:0016160amylase activity IEA--
         
    MGAM for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MGAM:
     Increased G1 DNA content  Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mgam):
     homeostasis/metabolism 

    MGAM for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MGAM
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MGAM
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MGAM

    miRNA
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    hsa-mir-21-5p (MIRT030956), hsa-mir-335-5p (MIRT018623)

    Block miRNA regulation of human, mouse, rat MGAM using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate MGAM:
    hsa-miR-466 hsa-miR-330-3p hsa-miR-216a hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidMGAM 3' UTR sequence
    Inhib. RNA
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    (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
    MGA_HUMAN, O43451: Apical cell membrane; Single-pass type II membrane protein. Note=Brush border
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    chloroplast3
    cytoskeleton3
    endoplasmic reticulum3
    extracellular3
    mitochondrion3
    nucleus3
    cytosol2
    golgi apparatus2
    vacuole2
    endosome1
    lysosome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0016324apical plasma membrane IEA--

    MGAM 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 MGAM About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    3Galactose metabolism
    Galactose metabolism0.44
    4Glucuronidation
    Starch and sucrose metabolism0.41
    5Digestion of dietary carbohydrate
    Digestion of dietary carbohydrate

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MGAM
        Digestion of dietary carbohydrate


    4 Kegg Pathways  (Kegg details for MGAM):
        Galactose metabolism
    Starch and sucrose metabolism
    Metabolic pathways
    Carbohydrate digestion and absorption


    MGAM for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MGAM
    Interactions:

        GeneGlobe Interaction Network for MGAM

    1 Interacting protein for MGAM (O434513) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCF1P145983I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005983starch catabolic process TAS9446624
    GO:0044245polysaccharide digestion TAS--
    GO:0044281small molecule metabolic process TAS--

    MGAM 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 

    Browse Tocris compounds for MGAM (MGA)

    10 HMDB Compounds for MGAM    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    Beta-D-Glucoseb-D-Glucopyranose (see all 8)492-61-5--
    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--
    DextrinCaloreen (see all 10)9004-53-9--
    GlycogenAnimal starch (see all 5)9005-79-2--
    Melibiose6-(D-galactosido)-D-glucose (see all 17)585-99-9--
    Sucrose(+)-Sucrose (see all 11)57-50-1--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 DrugBank Compounds for MGAM    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Voglibose-- 83480-29-9targetinhibitor20351564 20025554 16713439 19281809 11752352 19568704
    Acarbose-- 56180-94-0targetinhibitor16763908 16359900 11752352 19275550 16702880
    Miglitol-- 72432-03-2targetantagonist inhibitor19818342 16817895 11752352 9951949

    Selected Novoseek inferred chemical compound relationships for MGAM gene (see all 67)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    salacinol 94.6 14 18295754 (3), 16438529 (1), 17194097 (1), 16817895 (1) (see all 10)
    starch 80.5 77 10942292 (5), 7706213 (2), 7765970 (2), 1368209 (2) (see all 45)
    acarbose 80.4 22 16702880 (3), 16359900 (2), 11890888 (2), 7821430 (2) (see all 14)
    maltose 80.2 32 16702880 (3), 9336980 (2), 9680991 (1), 1525871 (1) (see all 25)
    isomaltose 74.5 8 9605546 (3), 9605547 (2), 1970434 (1), 7716159 (1)
    1-deoxynojirimycin 72.4 3 11275559 (1), 16611383 (1), 8611585 (1)
    maltodextrin 70.8 8 9605546 (2), 11400108 (2), 11890888 (1), 18356321 (1) (see all 6)
    miglitol 67.8 2 9825953 (1)
    maltotetraose 65.4 2 1295602 (1), 9099629 (1)
    cyclomaltodextrin 59.5 1 15178396 (1)



    MGAM 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,
    Conferences by KenesGroup, 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 MGAM gene: 
    NM_004668.2  

    Unigene Cluster for MGAM:

    Maltase-glucoamylase (alpha-glucosidase)
    Hs.122785  [show with all ESTs]
    Unigene Representative Sequence: NM_004668
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465654 ENST00000497554 ENST00000549489(uc003vwy.3) ENST00000497673
    ENST00000475668 ENST00000495045 ENST00000490593 ENST00000485078
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    4 qRT-PCR Assays for microRNAs that regulate MGAM:
    hsa-miR-466 hsa-miR-330-3p hsa-miR-216a hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidMGAM 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat MGAM

    Additional mRNA sequence: 

    AF016833.2 AK127838.1 BC120872.1 

    2 DOTS entries:

    DT.105116  DT.101976434 

    Selected AceView cDNA sequences (see all 36):

    BE501751 AI249749 AA412675 BE501913 AA894763 BE501528 AF016833 AI733054 
    AA411968 BX099576 CK301106 AI474873 AW468532 BU684758 NM_004668 AA846103 
    AI791544 AL698344 BG721366 AI796060 BP383005 AK127838 AI566134 BX645594 

    GeneLoc Exon Structure


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


    MGAM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Kidney (Urinary System)
    MGAM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MGAM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.122785

    UniProtKB/Swiss-Prot: MGA_HUMAN, O43451
    Tissue specificity: Expressed in small intestine, granulocyte, and kidney but not in salivary gland or pancreas

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MGAM

    (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 MGAM gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mgam1 , 5 maltase-glucoamylase1, 5 81.92(n)1
    80.3(a)1
      6 (18.82 cM)5
    2327141  NM_001171003.11  NP_001164474.11 
     406288315 
    chicken
    (Gallus gallus)
    Aves SI1 sucrase-isomaltase (alpha-glucosidase) 65.31(n)
    64.11(a)
      425007  XM_422811.4  XP_422811.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    62(a)
    1 → many
    3(10755679-10858144)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mgam1 maltase-glucoamylase (alpha-glucosidase) 63.73(n)
    62.25(a)
      100379714  XM_002933249.2  XP_002933295.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si1 sucrase-isomaltase (alpha-glucosidase) 61.14(n)
    58.71(a)
      100148922  XM_001919100.4  XP_001919135.4 
    worm
    (Caenorhabditis elegans)
    Secernentea D2096.33
    aagr-21
    aagr-21 39(a)
    (best of 3)3
    50.99(n)1
    45.83(a)1
      IV(8363651-8375533)3
    1738481  NM_062496.61  NP_494897.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ROT26
    Glucosidase II catalytic subunit required for norm...
    22(a)
    1 → many
    II(676357-679221) YBR229C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G117201 AT5G11720 48.78(n)
    41.35(a)
      831044  NM_121210.3  NP_196733.1 
    rice
    (Oryza sativa)
    Liliopsida Os.197612 Oryza sativa (japonica cultivar-group) cDNA clone0 more 72.88(n)    AK102309.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MGAM gene
    SI2  GAA2  GANC2  GANAB2  LOC934322  
    2 SIMAP similar genes for MGAM using alignment to 6 protein entries:     MGA_HUMAN (see all proteins):
    SI    GAA

    MGAM 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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    Selected SNPs for MGAM (see all 3306)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1480331721,2
    C--141693761(+) ACCTCC/TGCCTC 1 -- us2k10--------
    rs1418022971,2
    C--141693816(+) GATTAC/TAGGCA 1 -- us2k10--------
    rs1117257801,2
    C--141693827(+) CGCACC/AGCCAT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1501621371,2
    --141693828(+) GCACCA/GCCATG 1 -- us2k10--------
    rs1156911031,2
    C--141693848(+) TTTTCA/GTACTT 1 -- us2k10--------
    rs1851913901,2
    --141693994(+) TAAGAA/GGGGTT 1 -- us2k10--------
    rs134377801,2
    C,F,H--141694222(+) ttgatT/Aggcag 1 -- us2k121Minor allele frequency- A:0.04NS EA NA WA 2756
    rs1419265901,2
    C--141694248(+) GAGCAC/TCTAAA 1 -- us2k10--------
    rs16091001,2
    C,F,A,H--141694268(+) gtgcaA/Gctgag 1 -- us2k111Minor allele frequency- G:0.45NA WA CSA EA 372
    rs1463335881,2
    C--141694285(+) CCCAGA/GAGGGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MGAM (141607613 - 141806547 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MGAM (see all 54):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1163e201CNV Deletion23290073
    dgv1164e201CNV Deletion23290073
    esv2735255CNV Deletion23290073
    dgv1242e199CNV Deletion23128226
    esv2421934CNV Deletion20811451
    esv1556929CNV Deletion17803354
    esv2735254CNV Deletion23290073
    esv270979CNV Insertion20981092
    nsv5976CNV Insertion18451855
    esv1318675CNV Insertion17803354

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

    (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.)
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    OMIM gene information: 154360    OMIM disorders: --

    Selected diseases for MGAM (see all 28):    About MalaCards
    glycogen storage disease ii    protein-energy malnutrition    hypokalemia    diarrhea
    hypophosphatemia    calcinosis    glycogen storage disease    toxic encephalopathy
    colon adenocarcinoma    metabolic acidosis    hyperglycemia    osteoporosis
    cystic fibrosis    duodenitis    myopathy    hyperparathyroidism
    coronary heart disease    insulin resistance    kidney disease    adenocarcinoma

    11 diseases from the University of Copenhagen DISEASES database for MGAM:
    Hypertension     Hypokalemia     Kidney disease     Heart disease
    Calcinosis     Diabetes mellitus     Osteoporosis     Metabolic acidosis
    Hyperparathyroidism     Toxic encephalopathy     Cerebrovascular accident

    MGAM for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for MGAM gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    disaccharidase deficiencies 79.7 1 8151467 (1)
    pompe disease 61.5 4 16702880 (2), 16763908 (1)
    lactase deficiency 61.4 1 12394387 (1)
    enzyme deficiency 45.6 1 12394387 (1)
    diarrhea chronic 36.1 4 12519224 (2), 12394383 (1), 8151467 (1)
    atrophy 24.5 4 11346204 (2), 10817278 (1)
    colon adenocarcinoma 20.2 1 9438518 (1)
    malnutrition 16.5 5 7896332 (2), 8125391 (1), 9446624 (1)
    bowel disease 3.68 1 17671629 (1)
    cancer 0.597 3 1281900 (1), 1515557 (1)

    Genatlas disease: MGAM
    diarrhea in children associated with starch malabsorption and small intestinal glucoamylase deficiency

    Genetic Association Database (GAD): MGAM
    Human Genome Epidemiology (HuGE) Navigator: MGAM (3 documents)

    Export disorders for MGAM 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 MGAM gene, integrated from 10 sources (see all 308):
    (articles sorted by number of sources associating them with MGAM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human small intestinal maltase-glucoamylase cDNA cloning. Homology to sucrase-isomaltase. (PubMed id 9446624)1, 2, 3, 9 Nichols B.L....Sterchi E.E. (J. Biol. Chem. 1998)
    2. Human intestinal maltase-glucoamylase: crystal structure of the N- terminal catalytic subunit and basis of inhibition and substrate specificity. (PubMed id 18036614)1, 2, 9 Sim L.... Rose D.R. (J. Mol. Biol. 2008)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    5. Structure, biosynthesis, and glycosylation of human small intestinal maltase-glucoamylase. (PubMed id 3143729)1, 2 Naim H.Y.... Lentze M.J. (J. Biol. Chem. 1988)
    6. Tyrosine sulfation, a post-translational modification of microvillar enzymes in the small intestinal enterocyte. (PubMed id 3121301)1, 2 Danielsen E.M. (EMBO J. 1987)
    7. Inhibition of recombinant human maltase glucoamylase by salacinol and derivatives. (PubMed id 16817895)7, 9 Rossi E.J....Rose D.R. (FEBS J. 2006)
    8. Structural basis for substrate selectivity in human maltase- glucoamylase and sucrase-isomaltase N-terminal domains. (PubMed id 20356844)1, 9 Sim L.... Rose D.R. (J. Biol. Chem. 2010)
    9. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. (PubMed id 16702880)7, 9 Zhang H....Bali D. (Genet. Med. 2006)
    10. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. (PubMed id 16763908)7, 9 Gelb M.H....Chamoles N.A. (J. Inherit. Metab. Dis. 2006)

    (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: 8972 HGNC: 7043 AceView: MGAM Ensembl:ENSG00000257335 euGenes: HUgn8972
    ECgene: MGAM Kegg: 8972 H-InvDB: MGAM

    (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 MGAM Pharmacogenomics, SNPs, Pathways

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

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



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