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

MGAM Gene

protein-coding   GIFtS: 57
GCID: GC07P141607

Maltase-Glucoamylase (Alpha-Glucosidase)

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
Maltase-Glucoamylase (Alpha-Glucosidase)1 2     Brush Border Hydrolase2
MGA2 3 5     Maltase-Glucoamylase, Intestinal2
MG2     MGAML3
alpha-glucosidase2     EC 3.2.1.208

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

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, and among its related super-pathways are Metabolic pathways and MPS IIIC - Sanfilippo syndrome C. GO annotations related to this gene include carbohydrate binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007914.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MGAM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: MGA_HUMAN, O43451 (See protein sequence)
Recommended Name: Maltase-glucoamylase, intestinal  
Size: 1857 amino acids; 209852 Da
Subunit: Monomer
Subcellular location: Apical cell membrane; Single-pass type II membrane protein. Note=Brush border
6/12 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:

  • UniProtKB: N- and O-glycosylated
  • UniProtKB: Does not undergo intracellular or extracellular proteolytic cleavage
  • UniProtKB: Sulfated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43451

  • 2 DME Specific Peptides for MGAM (O43451)
     GADICGF  LLPYLYTL 

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

    MGAM Protein Expression
    REFSEQ proteins: NP_004659.2  
    ENSEMBL proteins: 
     ENSP00000419372   ENSP00000447378   ENSP00000417103   ENSP00000417515  
    Reactome Protein details: O43451
    Human Recombinant Protein Products for MGAM: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    MGAM for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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: 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): 5/7 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for MGAM 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MGAM 
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    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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    (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 MGAM About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48
    3Galactose metabolism
    Galactose metabolism0.46
    4Glucuronidation
    Starch and sucrose metabolism0.41
    5Digestion of dietary carbohydrate
    Digestion of dietary carbohydrate

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for MGAM
        Metabolism of carbohydrates
    Digestion of dietary carbohydrate
    Metabolism


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


    MGAM for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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 (GO ID links to tree view):    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 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

    MGAM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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

    10/67 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)

    Search CenterWatch for drugs/clinical trials and news about MGAM / MGA

    (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 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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    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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    Additional mRNA sequence: 

    AF016833.2 AK127838.1 BC120872.1 

    2 DOTS entries:

    DT.105116  DT.101976434 

    24/36 AceView cDNA sequences (see all 36):

    AA411968 BU684758 AI249749 AW468532 CK301106 AI733054 BE501751 BE501528 
    AF016833 BE501913 AA412675 AA894763 AI474873 BX099576 AW612430 BP383005 
    NM_004668 AL698344 BG721366 AI791544 AA846103 AK127838 AA412737 AI796060 

    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™, 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

    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 
     5/3 selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
     
     Kidney (Urinary System)
     
     Blood (Hematopoietic System)

     -- (Gastrointestinal Tract)
             small intestine   

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

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MGAM gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mgam1 , 5 maltase-glucoamylase1, 5 82.17(n)1
    80.57(a)1
      6 (18.82 cM)5
    2327141  NM_001171003.11  NP_001164474.11 
     406288315 
    chicken
    (Gallus gallus)
    Aves SI1 sucrase-isomaltase (alpha-glucosidase) 65.07(n)
    63.84(a)
      425007  XM_422811.3  XP_422811.2 
    lizard
    (Anolis carolinensis)
    Reptilia SI6
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    61(a)
    52(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    3(10755679-10858144)
    3(10892267-10917136)
    zebrafish
    (Danio rerio)
    Actinopterygii wu:fd44a091 wu:fd44a09 61.43(n)
    58.97(a)
      100148922  XM_001919100.3  XP_001919135.3 
    worm
    (Caenorhabditis elegans)
    Secernentea D2096.33   -- 39(a)
    (best of 3)
      IV(8363651-8375533)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ROT26
    Glucosidase II catalytic subunit required for norm...
    21(a)
    1 → many
    II(676357-679221)
    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)
    About This Section
    Paralogs for MGAM gene
    SI2  GAA2  GANC2  ENSG000002577432  GANAB2  
    3 SIMAP similar genes for MGAM using alignment to 6 protein entries:     MGA_HUMAN (see all proteins):
    SI    GAA    GANAB

    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) 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

    10/3306 SNPs in MGAM are shown (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) 10/54 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

    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: 154360    OMIM disorders: --

    20/26 diseases for MGAM (see all 26):    About MalaCards
    glycogen storage disease ii    protein-energy malnutrition    diarrhea    hypokalemia
    metabolic acidosis    calcinosis    hypophosphatemia    colon adenocarcinoma
    glycogen storage disease    toxic encephalopathy    cerebrovascular accident    hyperglycemia
    hyperparathyroidism    duodenitis    cystic fibrosis    coronary heart disease
    myopathy    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

    10/17 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)
    About This Section

    PubMed articles for MGAM gene, integrated from 9 sources (see all 307):
    (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. (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. (2008)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    5. Structure, biosynthesis, and glycosylation of human small intestinal maltase-glucoamylase. (PubMed id 3143729)1, 2 Naim H.Y.... Lentze M.J. (1988)
    6. Tyrosine sulfation, a post-translational modification of microvillar enzymes in the small intestinal enterocyte. (PubMed id 3121301)1, 2 Danielsen E.M. (1987)
    7. Inhibition of recombinant human maltase glucoamylase by salacinol and derivatives. (PubMed id 16817895)7, 9 Rossi E.J....Rose D.R. (2006)
    8. Structural basis for substrate selectivity in human m altase-glucoamylase and sucrase-isomaltase N-terminal domains. (PubMed id 20356844)1, 9 Sim L....Rose D.R. (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. (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. (2006)

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

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

    (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 MGAM Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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