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MAGEL2 Gene

protein-coding   GIFtS: 48
GCID: GC15M023888

MAGE-Like 2


(Previous symbol: NDNL1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
MAGE-Like 21 2     PWLS2 5
NDNL11 2 3 5     MAGE-Like Protein 22
Necdin-Like Protein 12 3     nM152
Protein NM152 3     

External Ids:    HGNC: 68141   Entrez Gene: 545512   Ensembl: ENSG000002545857   OMIM: 6052835   UniProtKB: Q9UJ553   

Export aliases for MAGEL2 gene to outside databases

Previous GC identifers: GC15M021024 GC15M016778 GC15M021306 GC15M021436 GC15M021439 GC15M002024


(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 MAGEL2 Gene:
Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region.
Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN),
a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been
implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is
also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in
PWS. (provided by RefSeq, Oct 2010)

GeneCards Summary for MAGEL2 Gene:
MAGEL2 (MAGE-like 2) is a protein-coding gene. Diseases associated with MAGEL2 include prader-willi syndrome due to maternal uniparental disomy of chromosome 15, and prader-willi syndrome due to paternal deletion of 15q11q13 type 2. An important paralog of this gene is MAGEC2.

UniProtKB/Swiss-Prot: MAGL2_HUMAN, Q9UJ55
Function: May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases.
Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate
complex




(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_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAGEL2 gene promoter:
         GR   AP-1   AML1a   MyoD   E47   CREB   HOXA5   Hand1   GR-alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MAGEL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEL2


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

Entrez Gene cytogenetic band: 15q11-q12   Ensembl cytogenetic band:  15q11.2   HGNC cytogenetic band: 15q11-q12

MAGEL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEL2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M023888:  view genomic region     (about GC identifiers)

Start:
23,888,691 bp from pter      End:
23,892,993 bp from pter
Size:
4,303 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MAGL2_HUMAN, Q9UJ55 (See protein sequence)
Recommended Name: MAGE-like protein 2  
Size: 529 amino acids; 58669 Da
Subunit: Interacts with TRIM27

Explore the universe of human proteins at neXtProt for MAGEL2: NX_Q9UJ55

Explore proteomics data for MAGEL2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MAGEL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061939.3  
    ENSEMBL proteins: 
     ENSP00000433433  

    MAGEL2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MAGEL2
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MAGEL2

    MAGEL2 Antibody Products:

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    Novus Biologicals MAGEL2 Antibody
    Abcam antibodies for MAGEL2
    Cloud-Clone Corp. Antibodies for MAGEL2
    Search ThermoFisher Antibodies for MAGEL2
    LSBio Antibodies in human, mouse, rat for MAGEL2

    MAGEL2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MAGEL2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MAGEL2
    Cloud-Clone Corp. CLIAs for MAGEL2


    (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:
     IPR002190 MAGE

    Graphical View of Domain Structure for InterPro Entry Q9UJ55

    ProtoNet protein and cluster: Q9UJ55

    1 Blocks protein domain: IPB002190 MAGE protein

    UniProtKB/Swiss-Prot: MAGL2_HUMAN, Q9UJ55
    Similarity: Contains 1 MAGE domain


    MAGEL2 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: MAGL2_HUMAN, Q9UJ55
    Function: May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases.
    Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate
    complex

         Genatlas biochemistry entry for MAGEL2:
    melanoma antigen (MAGE)-like 2,intronless located in the PWCR region,(paternally) expressed in brain,fetal and
    adult,maternally imprinted

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    MAGEL2 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Magel2):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     mortality/aging  nervous system  reproductive system  taste/olfaction 

    MAGEL2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Magel2tm1.1Mus for MAGEL2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAGEL2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAGEL2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAGEL2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAGEL2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat MAGEL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAGEL2 (see all 11):
    hsa-miR-21* hsa-miR-520d-5p hsa-miR-1271 hsa-miR-551b* hsa-miR-3133 hsa-miR-548l hsa-miR-182 hsa-miR-513b
    SwitchGear 3'UTR luciferase reporter plasmidMAGEL2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MAGEL2
    Predesigned siRNA for gene silencing in human, mouse, rat MAGEL2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MAGEL2

    Clone
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    OriGene clones in human, mouse for MAGEL2 (see all 8)
    OriGene ORF clones in mouse, rat for MAGEL2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAGEL2 (NM_019066)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAGEL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAGEL2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MAGEL2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGEL2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    MAGEL2 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MAGEL2
    Interactions:

        Search GeneGlobe Interaction Network for MAGEL2

    2 Interacting proteins for MAGEL2 (Q9UJ553) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    E2F1Q010943I2D: score=1 
    NGFRP081383I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0008150biological_process ND--

    MAGEL2 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 MAGEL2 (MAGL2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MAGEL2 gene: 
    NM_019066.4  

    Unigene Cluster for MAGEL2:

    MAGE-like 2
    Hs.141496  [show with all ESTs]
    Unigene Representative Sequence: NM_019066
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000532292(uc001ywj.4)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MAGEL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAGEL2 (see all 11):
    hsa-miR-21* hsa-miR-520d-5p hsa-miR-1271 hsa-miR-551b* hsa-miR-3133 hsa-miR-548l hsa-miR-182 hsa-miR-513b
    SwitchGear 3'UTR luciferase reporter plasmidMAGEL2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MAGEL2
    Predesigned siRNA for gene silencing in human, mouse, rat MAGEL2
    Clone
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    OriGene clones in human, mouse for MAGEL2 (see all 8)
    OriGene ORF clones in mouse, rat for MAGEL2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAGEL2 (NM_019066)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAGEL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAGEL2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MAGEL2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAGEL2
      QuantiTect SYBR Green Assays in human, mouse, rat MAGEL2
      QuantiFast Probe-based Assays in human, mouse, rat MAGEL2

    Additional mRNA sequence: 

    AJ243531.1 BC035839.1 BC063834.1 BC112257.1 BC112259.1 

    2 DOTS entries:

    DT.431115  DT.102825782 

    Selected AceView cDNA sequences (see all 32):

    AI702224 CR592043 BM547670 BQ884030 AA939255 AL528236 BC035839 BC063834 
    AI202090 NM_019066 AA451737 BX108950 BI912687 AI206611 AA418718 BF058258 
    AA027026 BM887989 AJ243531 BF968700 AV751488 AI375768 AI129312 BG914365 

    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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    MAGEL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGCATTGTA
    MAGEL2 Expression
    About this image


    MAGEL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
             Retina
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Stem Cell line 7
     
     Bone (Muscoskeletal System)
             Mandibular Process
    MAGEL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAGEL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.141496

    UniProtKB/Swiss-Prot: MAGL2_HUMAN, Q9UJ55
    Tissue specificity: Expressed in placenta, fetal and adult brain. Not detected in heart and small intestine, very
    low levels in fibroblasts. Not expressed in brain of a Prader-Willi patient

        Custom PCR Arrays for MAGEL2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAGEL2
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    QuantiFast Probe-based Assays in human, mouse, rat MAGEL2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGEL2

    (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 MAGEL2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Magel21 , 5 melanoma antigen, family L, 21, 5 73.89(n)1
    65.73(a)1
      7 (34.37 cM)5
    273851  NM_013779.21  NP_038807.41 
     623769795 
    chicken
    (Gallus gallus)
    Aves MAGE6
    Gallus gallus necdin-like 2 (NDNL2), mRNA.
    43(a)
    1 → many
    JH376257.1(2550-4829)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    39(a)
    1 → many
    1(205667349-205679701)
    zebrafish
    (Danio rerio)
    Actinopterygii ndnl26
    necdin-like 2
    39(a)
    1 → many
    23(13012414-13025121) ENSDARG00000058212


    ENSEMBL Gene Tree for MAGEL2 (if available)
    TreeFam Gene Tree for MAGEL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAGEL2 gene
    MAGEC22  MAGEA9B2  MAGEB52  MAGEB162  MAGEB12  MAGEB42  MAGEC12  MAGED42  
    MAGEA82  MAGED22  MAGEA122  MAGEA92  MAGEB172  MAGEB102  MAGEA62  MAGED12  
    MAGEA22  MAGEA32  MAGEB22  NDN2  MAGEB32  MAGED4B2  MAGEA42  MAGEA12  
    MAGEA102  MAGEB182  MAGEA2B2  MAGEB62  TRO2  MAGEA112  NDNL22  MAGEF12  
    Selected SIMAP similar genes for MAGEL2 using alignment to 5 protein entries:     MAGL2_HUMAN (see all proteins) (see all similar genes):
    TRO    MAGEH1    MAGEA8    MAGE-B1    MAGEB1    MAGEF1
    MAGEB2    MAGEB4    NDNL2    MAGEA1    MAGEA4    MAGEB3
    MAGEC4    MAGEA6    MAGEA2    MAGEA2B    MAGEA3    MAGEB10

    MAGEL2 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 MAGEL2 (see all 195)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1929773011,2
    C--3882704(+) ATGAAA/GACTGT 1 -- ds50010--------
    rs1397133241,2
    C--3882709(+) GACTGC/TTTTTT 1 -- ds50010--------
    rs1498473351,2
    --3882762(+) TTTCCA/GTCCCG 1 -- ds50010--------
    rs1448547841,2
    --3882767(+) ATCCCA/GGTAGC 1 -- ds50010--------
    rs111613181,2
    C,F,A,H--3882771(+) CGGTAG/ACAGTG 1 -- ds500128Minor allele frequency- A:0.21NS EA NA WA 3136
    rs8508231,2
    C,F,O,A,H--3882814(-) CGTGGG/CGGGGT 1 -- ds500114Minor allele frequency- C:0.28MN NS EA NA WA CSA 976
    rs1846505481,2
    --3882970(+) GGCACC/TAACGT 1 -- ds50010--------
    rs1485914851,2
    --3882991(+) ATTAAA/TCTCCT 1 -- ds50010--------
    rs1869622911,2
    --3882996(+) TCTCCC/TGGAGA 1 -- ds50010--------
    rs771059131,2
    C,F--3883086(+) ATCACC/TGTGGT 1 -- ds50011Minor allele frequency- T:0.14EA 120

    HapMap Linkage Disequilibrium report for MAGEL2 (23888691 - 23892993 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MAGEL2: --
    Human Gene Mutation Database (HGMD): MAGEL2
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MAGEL2
    DNA2.0 Custom Variant and Variant Library Synthesis for MAGEL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605283   
    OMIM disorders: 615547  
    UniProtKB/Swiss-Prot: MAGL2_HUMAN, Q9UJ55
  • Note=May play a role in Prader-Willi syndrome (PWS) which is a contiguous gene syndrome resulting from
    inactivity of the paternal copies of a number of genes on 15q11, through deletion or disruption of these genes or
    maternal uniparental disomy 15. The PWS syndrome is characterized by muscular hypotonia, mental retardation,
    short stature, obesity, hypogonadotropic hypogonadism, and small hands and feet

  • 20 diseases for MAGEL2:    
    About MalaCards
    prader-willi syndrome due to maternal uniparental disomy of chromosome 15    prader-willi syndrome due to paternal deletion of 15q11q13 type 2    prader-willi syndrome due to imprinting mutation    prader-willi-like syndrome
    prader-willi syndrome due to paternal deletion of 15q11q13 type 1    prader-willi syndrome    hypotonia    angelman syndrome
    hypogonadotropism    obesity    hypogonadism    mood disorder
    short stature    schizophrenia    mental retardation    melanoma
    neuronitis    multiple myeloma    myeloma    retinitis


    MAGEL2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for MAGEL2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prader-willi syndrome 88.4 2 14593116 (2)
    angelman syndrome 84.7 1 14593116 (1)

    Genetic Association Database (GAD): MAGEL2
    Human Genome Epidemiology (HuGE) Navigator: MAGEL2 (1 document)

    Export disorders for MAGEL2 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 MAGEL2 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with MAGEL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. (PubMed id 10556298)1, 2, 3 Boccaccio I....Muscatelli F. (Hum. Mol. Genet. 1999)
    2. MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. (PubMed id 20864041)1, 2 Doyle J.M.... Potts P.R. (Mol. Cell 2010)
    3. Lack of association between MAGEL2 and schizophrenia and mood disorders in the Japanese population. (PubMed id 20467835)1, 4 Fukuo Y....Iwata N. (Neuromolecular Med. 2010)
    4. Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype. (PubMed id 10915770)1, 2 Lee S.... Wevrick R. (Hum. Mol. Genet. 2000)
    5. Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination. (PubMed id 23452853)1 Hao Y.H....Potts P.R. (Cell 2013)
    6. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. (PubMed id 24076603)1 Schaaf C.P....Yang Y. (Nat. Genet. 2013)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Prader-Willi Syndrome (PubMed id 20301505)1 Pagon R.A....Stephens K. (1993)
    10. Necdin-related MAGE proteins differentially interact with the E2F1 transcription factor and the p75 neurotrophin receptor. (PubMed id 14593116)9 Kuwako K....Yoshikawa K. (J. Biol. Chem. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Entrez Gene: 54551 HGNC: 6814 AceView: MAGEL2 Ensembl:ENSG00000254585 euGenes: HUgn54551
    ECgene: MAGEL2 H-InvDB: MAGEL2

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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 MAGEL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for MAGEL2 gene:
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