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GM2A Gene

protein-coding   GIFtS: 62
GCID: GC05P150612

GM2 Ganglioside Activator

(Previous name: GM2 ganglioside activator protein)
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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
GM2 Ganglioside Activator1 2     SAP-32 3
Cerebroside Sulfate Activator Protein1 2 3     GM2 Ganglioside Activator Protein1
Sphingolipid Activator Protein 31 2 3     Ganglioside GM2 Activator2
GM2-AP2 3     Shingolipid Activator Protein 32

External Ids:    HGNC: 43671   Entrez Gene: 27602   Ensembl: ENSG000001967437   OMIM: 6131095   UniProtKB: P179003   

Export aliases for GM2A gene to outside databases

Previous GC identifers: GC05P150701 GC05P151229 GC05P150615 GC05P150661 GC05P145777


(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 GM2A Gene:
This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the
lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes
the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations
in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Nov 2009)

GeneCards Summary for GM2A Gene:
GM2A (GM2 ganglioside activator) is a protein-coding gene. Diseases associated with GM2A include tay-sachs disease ab variant, and gangliosidosis gm2. GO annotations related to this gene include beta-N-acetylhexosaminidase activity and sphingolipid activator protein activity.

UniProtKB/Swiss-Prot: SAP3_HUMAN, P17900
Function: The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also
exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates
ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by
beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to
beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3

Gene Wiki entry for GM2A 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_000005.10  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the GM2A gene promoter:
         POU3F1   NRSF form 1   Nkx2-5   NF-E2 p45   NRSF form 2   PPAR-gamma1   PPAR-gamma2   NF-E2   MRF-2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGM2A promoter sequence
   Search Chromatin IP Primers for GM2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GM2A


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

Entrez Gene cytogenetic band: 5q33.1   Ensembl cytogenetic band:  5q33.1   HGNC cytogenetic band: 5q33.1

GM2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GM2A gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P150612:  view genomic region     (about GC identifiers)

Start:
150,591,711 bp from pter      End:
150,650,001 bp from pter
Size:
58,291 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SAP3_HUMAN, P17900 (See protein sequence)
Recommended Name: Ganglioside GM2 activator precursor  
Size: 193 amino acids; 20838 Da
Sequence caution: Sequence=CAA43408.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAA43994.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for GM2A (see all 8):
1G13 (3D)        1PU5 (3D)        1PUB (3D)        1TJJ (3D)        2AF9 (3D)        2AG2 (3D)    
Secondary accessions: B2R699 D3DQH6 Q14426 Q14428 Q6LBL5

Explore the universe of human proteins at neXtProt for GM2A: NX_P17900

Explore proteomics data for GM2A at MOPED

Post-translational modifications: 

  • The serines in positions 32 and 33 are absent in 80% of the sequenced protein1
  • Glycosylation2 at Asn63

  • See GM2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000396.2  NP_001161079.1  

    ENSEMBL proteins: 
     ENSP00000429100   ENSP00000349687   ENSP00000430541  
    Reactome Protein details: P17900

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    Cloud-Clone Corp. CLIAs for GM2A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR003172 ML_dom

    Graphical View of Domain Structure for InterPro Entry P17900

    ProtoNet protein and cluster: P17900


    GM2A 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: SAP3_HUMAN, P17900
    Function: The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also
    exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates
    ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by
    beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to
    beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3

         Genatlas biochemistry entry for GM2A:
    ganglioside GM2 activator protein,22kDa,liposomal catalyzing degradation of glycosphingolipids with terminal
    alpha-galactosyl residues in most non neuronal tissues and in body fluids

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004563beta-N-acetylhexosaminidase activity IEA--
    GO:0005319lipid transporter activity IEA--
    GO:0008047enzyme activator activity ----
    GO:0016004phospholipase activator activity IEA--
    GO:0030290sphingolipid activator protein activity ----
         
    GM2A for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gm2a):
     behavior/neurological  nervous system 

    GM2A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gm2atm1Rlp for GM2A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GM2A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GM2A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GM2A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GM2A

    miRNA
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    Block miRNA regulation of human, mouse, rat GM2A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GM2A (see all 11):
    hsa-miR-22 hsa-miR-137 hsa-miR-429 hsa-miR-766 hsa-miR-646 hsa-miR-374c hsa-miR-382 hsa-miR-200c
    SwitchGear 3'UTR luciferase reporter plasmidGM2A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GM2A

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    GenScript: all cDNA clones in your preferred vector (see all 2): GM2A (NM_001167607)
    Sino Biological Human cDNA Clone for GM2A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GM2A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GM2A

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GM2A


    (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
    SAP3_HUMAN, P17900: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    nucleus4
    cytosol3
    extracellular3
    mitochondrion2
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus ----
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005764lysosome ----
    GO:0009898cytoplasmic side of plasma membrane IEA--

    GM2A 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 GM2A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for GM2A
        Glycosphingolipid metabolism


    1 Kegg Pathway  (Kegg details for GM2A):
        Lysosome


    GM2A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GM2A
    Interactions:

        Search GeneGlobe Interaction Network for GM2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for GM2A (P179003 ENSP000003496874) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GPLD1P801083, ENSP000002300364I2D: score=2 STRING: ENSP00000230036
    HEXAP068653, ENSP000002680974I2D: score=3 STRING: ENSP00000268097
    PLD2O149393, ENSP000002630884I2D: score=3 STRING: ENSP00000263088
    GLB1ENSP000003069204STRING: ENSP00000306920
    HEXBENSP000002614164STRING: ENSP00000261416
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001573ganglioside metabolic process ----
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006689ganglioside catabolic process IEA--
    GO:0006869lipid transport ----

    GM2A 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 GM2A (SAP3)

    Selected HMDB Compounds for GM2A (see all 530)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ganglioside GM2 (d18:0/12:0) --12486725
    Ganglioside GM2 (d18:0/14:0) --12486725
    Ganglioside GM2 (d18:0/16:0) --12486725
    Ganglioside GM2 (d18:0/18:0) --12486725
    Ganglioside GM2 (d18:0/18:1(11Z)) --12486725
    Ganglioside GM2 (d18:0/18:1(9Z)) --12486725
    Ganglioside GM2 (d18:0/20:0) --12486725
    Ganglioside GM2 (d18:0/22:0) --12486725
    Ganglioside GM2 (d18:0/22:1(13Z)) --12486725
    Ganglioside GM2 (d18:0/23:0) --12486725

    4 DrugBank Compounds for GM2A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Lpc-Ether-- --target--17139284 17016423
    Platelet Activating Factor-- 74389-68-7target--17139284 17016423
    MYRISTIC ACID-- --target--10592235
    Glycerylphosphorylcholine2-{[(2R)-2,3-dihydroxypropoxy](hydroxy)phosphoryloxy}-N,N,N-trimethylethanaminium (see all 7)563-24-6target----

    5 Novoseek inferred chemical compound relationships for GM2A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ganglioside 87.2 25 9770472 (3), 2209618 (2), 19720032 (1), 8631864 (1) (see all 18)
    sulfatide 67.9 2 14528917 (1), 11045609 (1)
    mannose 6-phosphate 64 2 14657016 (1), 9030589 (1)
    glycolipid 62.9 2 12374214 (1), 10571007 (1)
    lipid 25 21 19720032 (4), 16478472 (3), 18952610 (2), 12909021 (2) (see all 7)



    GM2A 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 GM2A gene (2 alternative transcripts): 
    NM_000405.4  NM_001167607.1  

    Unigene Cluster for GM2A:

    GM2 ganglioside activator
    Hs.483873  [show with all ESTs]
    Unigene Representative Sequence: NM_000405
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523466 ENST00000357164(uc003ltr.4 uc011dcr.2) ENST00000523004(uc003ltt.1)


    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GM2A (see all 11):
    hsa-miR-22 hsa-miR-137 hsa-miR-429 hsa-miR-766 hsa-miR-646 hsa-miR-374c hsa-miR-382 hsa-miR-200c
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    Additional mRNA sequence: 

    AK127910.1 AK225978.1 AK298867.1 AK312494.1 BC009273.2 L01439.1 M76477.1 X16087.1 
    X61094.1 X61095.1 X62078.1 

    14 DOTS entries:

    DT.92466419  DT.95298802  DT.95093152  DT.120847910  DT.120847880  DT.418592  DT.418593  DT.92377223 
    DT.95140373  DT.40123713  DT.453420  DT.91741543  DT.95309250  DT.40254088 

    Selected AceView cDNA sequences (see all 336):

    CA306273 BQ004259 BU615756 BQ675246 CB128146 BI011951 AI139383 AA918687 
    AI304363 BM561693 BM834780 AA441886 AU107644 BU195857 BI012042 BG574538 
    AU077332 BU151341 N39456 T49597 BI012115 CA307491 BF197652 AU107643 

    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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    GM2A expression in normal human tissues (normalized intensities)      GM2A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GM2A Expression
    About this image


    GM2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Late Floor Plate Cells Mesencephalic Floor Plate
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Ovary (Reproductive System)
             Granulosa Cells Primary Follicle
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
    GM2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GM2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.483873
        Custom PCR Arrays for GM2A
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat GM2A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GM2A

    (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 chordates.

    Orthologs for GM2A gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm2a1 , 5 GM2 ganglioside activator protein1, 5 77.64(n)1
    73.65(a)1
      11 (32.13 cM)5
    146671  NM_010299.31  NP_034429.11 
     550981155 
    chicken
    (Gallus gallus)
    Aves GM2A1 GM2 ganglioside activator 66.87(n)
    54.32(a)
      100857973  XM_003642059.2  XP_003642107.2 
    lizard
    (Anolis carolinensis)
    Reptilia GM2A6
    GM2 ganglioside activator
    45(a)
    1 ↔ 1
    2(137947988-137960498)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gm2a1 GM2 ganglioside activator 60.04(n)
    52.17(a)
      548463  NM_001017081.2  NP_001017081.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gm2a1 GM2 ganglioside activator 58.43(n)
    57.83(a)
      550529  NM_001017831.1  NP_001017831.1 


    ENSEMBL Gene Tree for GM2A (if available)
    TreeFam Gene Tree for GM2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GM2A gene

    GM2A for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for GM2A
    PGOHUM00000245084 PGOHUM00000238224


    (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 GM2A (see all 460)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0069474
    GM2-gangliosidosis AB (GM2GAB)4--see VAR_0069472 C R mis40--------
    VAR_0116984
    GM2-gangliosidosis AB (GM2GAB)4--see VAR_0116982 R P mis40--------
    rs1048938971,2
    Cpathogenic1150915592(+) CTCTGG/TAGCCT 4 E * stg10--------
    rs1048938921,2
    C,Fpathogenic1150923134(+) CTACCA/C/GCATAG 3 P R mis1 int11NA 4552
    rs1126410141,2
    C,F--145793098(+) TTTTTG/CAGACA 2 -- ut311Minor allele frequency- C:0.50WA 2
    rs2016275901,2
    --145795088(+) GACTT-/TAATAAAT 2 -- cds10--------
    rs1432039381,2
    C--145795089(+) ACTTT-/AATA  
            
    AATGG
    2 -- ut310--------
    rs353846041,2
    C--145795092(+) TTAATAAAT/-  
            
    GGTGC
    2 -- ut311Minor allele frequency- -:0.50NA 2
    rs717250501,2
    C--145795092(+) ACTTT-/AATA  
            
    AATGG
    4 -- ut31 cds10--------
    rs359825131,2
    C--150647722(+) TTTTTT/-GAGAC 2 -- ut311Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for GM2A (150591711 - 150650001 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GM2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527485CNV Loss19592680

    Human Gene Mutation Database (HGMD): GM2A
    Locus Specific Mutation Databases (LSDB): GM2A

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 613109   
    OMIM disorders: 272750  
    UniProtKB/Swiss-Prot: SAP3_HUMAN, P17900
  • GM2-gangliosidosis AB (GM2GAB) [MIM:272750]: An autosomal recessive lysosomal storage disease marked by
    the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation
    in the presence of both normal hexosaminidase A and B. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 17 diseases for GM2A:    About MalaCards
    tay-sachs disease ab variant    gangliosidosis gm2    gm2 activator deficiency    gm2-gangliosidosis, ab variant
    tay-sachs disease    gangliosidosis    sandhoff disease    protein s deficiency
    lysosomal storage disease    spinal muscular atrophy    candidiasis    muscular atrophy
    sinusitis    esophagitis    multiple myeloma    myeloma
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for GM2A:
    Tay-Sachs disease     Sandhoff disease

    GM2A for disorders           About GeneDecksing


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

    8 Novoseek inferred disease relationships for GM2A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gangliosidosis gm2 ab variant 94.4 2 7713516 (1), 11090283 (1)
    gm2 gangliosidosis 90.1 5 11339652 (3), 9770472 (1), 17196574 (1)
    tay-sachs disease 83.8 4 18952610 (1), 11339652 (1), 17196574 (1), 11090283 (1)
    sandhoff disease 78.3 2 11339652 (1), 17196574 (1)
    i-cell disease 74.6 2 14657016 (1), 15236333 (1)
    protein deficiency 56.4 1 9645092 (1)
    neurological disorders 11.4 1 7713516 (1)
    neurodegenerative diseases 8.7 1 14528917 (1)

    Genatlas disease: GM2A
    GM2 gangliosidosis,AB variant

    Genetic Association Database (GAD): GM2A
    Human Genome Epidemiology (HuGE) Navigator: GM2A (1 document)

    Export disorders for GM2A 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 GM2A gene, integrated from 10 sources (see all 83):
    (articles sorted by number of sources associating them with GM2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein. (PubMed id 1915857)1, 2, 3 Klima H....Sandhoff K. (FEBS Lett. 1991)
    2. Crystal structure of human GM2-activator protein with a novel beta- cup topology. (PubMed id 11090283)1, 2, 9 Wright C.S.... Rastinejad F. (J. Mol. Biol. 2000)
    3. The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein. (PubMed id 2209618)1, 2, 9 Furst W.... Sandhoff K. (Eur. J. Biochem. 1990)
    4. Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. (PubMed id 8900233)1, 2, 9 Schepers U....Sandhoff K. (Am. J. Hum. Genet. 1996)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. (PubMed id 10364519)1, 2 Chen B.... Mahuran D.J. (Am. J. Hum. Genet. 1999)
    8. Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. (PubMed id 8244332)1, 2 Schroder M....Sandhoff K. (Hum. Genet. 1993)
    9. Evidence for two cDNAs encoding human GM2-activator protein. (PubMed id 1554364)1, 2 Nagarajan S.... Lockyer J. (Biochem. J. 1992)
    10. Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5. (PubMed id 1427911)1, 2 Xie B.... Mahuran D.J. (Genomics 1992)

    (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: 2760 HGNC: 4367 AceView: GM2A Ensembl:ENSG00000196743 euGenes: HUgn2760
    ECgene: GM2A Kegg: 2760 H-InvDB: GM2A

    (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 GM2A Pharmacogenomics, SNPs, Pathways
    GM2Adbhttp://www.hexdb.mcgill.ca/?Topic=GM2Adb
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GM2A[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GM2A gene:
    Search GeneIP for patents involving GM2A

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



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