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MAGEA2 Gene

protein-coding   GIFtS: 43
GCID: GC0XM151918

Melanoma Antigen Family A, 2


(Previous symbol: MAGE2)
  See MAGEA2-related disease
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
Melanoma Antigen Family A, 21 2     Cancer/Testis Antigen Family 11
MAGE21 2 3 5     Member 21
Cancer/Testis Antigen 1.22 3     Cancer/Testis Antigen Family 1, Member 22
CT1.22 3     Melanoma Antigen 22
MAGEA2A2 3     Melanoma-Associated Antigen 22
MAGE-2 Antigen2 3     

External Ids:    HGNC: 68001   Entrez Gene: 41012   Ensembl: ENSG000001847507   OMIM: 3001735   UniProtKB: P433563   

Export aliases for MAGEA2 gene to outside databases

Previous GC identifers: GC0XP146223 GC0XP148540 GC0XM149666 GC0XM150536 GC0XM151588 GC0XM151669 GC0XM140719


(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 MAGEA2 Gene:
This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence
identity to each other. The promoters and first exons of the MAGEA genes show considerable variability,
suggesting that the existence of this gene family enables the same function to be expressed under different
transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated
in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different
loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for MAGEA2 Gene:
MAGEA2 (melanoma antigen family A, 2) is a protein-coding gene. Diseases associated with MAGEA2 include oral squamous cell carcinoma. An important paralog of this gene is MAGEC2.

UniProtKB/Swiss-Prot: MAGA2_HUMAN, P43356
Function: Reduces p53/TP53 transactivation function through recruitment of HDAC3 to p53/TP53 transcription sites.
Also represses p73/TP73 activity. Proposed to enhance ubiquitin ligase activity of RING-type zinc
finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and
stimulates p53/TP53 ubiquitination by TRIM28 potentially in presence of Ubl-conjugating enzyme UBE2H. Proposed to
act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May
play a role in embryonal development and tumor transformation or aspects of tumor progression. In vitro promotes
cell viability in melanoma cell lines. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes.
Negatively regulates acetylation and sumoylation of PML and represses PML-induced p53/TP53 acetylation and
activation

Gene Wiki entry for MAGEA2 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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Regulatory elements:
   Regulatory transcription factor binding sites in the MAGEA2 gene promoter:
         p53   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAGEA2 promoter sequence
   Search Chromatin IP Primers for MAGEA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEA2


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

MAGEA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEA2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM151918:  view genomic region     (about GC identifiers)

Start:
151,918,387 bp from pter      End:
151,922,364 bp from pter
Size:
3,978 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: MAGA2_HUMAN, P43356 (See protein sequence)
Recommended Name: Melanoma-associated antigen 2  
Size: 314 amino acids; 35055 Da
Subunit: Interacts with TRIM28 and UBE2H. Interacts with HDAC3. Interacts with PML (isoform PML-1, isoform PML-2,
isoform PML-3, isoform PML-4 and isoform PML-5)
Secondary accessions: A8K328 Q32NC6

Explore the universe of human proteins at neXtProt for MAGEA2: NX_P43356

Explore proteomics data for MAGEA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MAGEA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001269430.1  NP_001269431.1  NP_001269433.1  NP_001269434.1  NP_005352.1  NP_786884.1  NP_786885.1  

    ENSEMBL proteins: 
     ENSP00000359307   ENSP00000438607   ENSP00000377454   ENSP00000377450  

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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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    2 InterPro protein domains:
     IPR021072 Melanoma_ass_antigen_N
     IPR002190 MAGE

    Graphical View of Domain Structure for InterPro Entry P43356

    ProtoNet protein and cluster: P43356

    1 Blocks protein domain: IPB002190 MAGE protein

    UniProtKB/Swiss-Prot: MAGA2_HUMAN, P43356
    Similarity: Contains 1 MAGE domain


    Find genes that share domains with MAGEA2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAGA2_HUMAN, P43356
    Function: Reduces p53/TP53 transactivation function through recruitment of HDAC3 to p53/TP53 transcription sites.
    Also represses p73/TP73 activity. Proposed to enhance ubiquitin ligase activity of RING-type zinc
    finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and
    stimulates p53/TP53 ubiquitination by TRIM28 potentially in presence of Ubl-conjugating enzyme UBE2H. Proposed to
    act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May
    play a role in embryonal development and tumor transformation or aspects of tumor progression. In vitro promotes
    cell viability in melanoma cell lines. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes.
    Negatively regulates acetylation and sumoylation of PML and represses PML-induced p53/TP53 acetylation and
    activation

         Genatlas biochemistry entry for MAGEA2:
    human melanoma antigen,family A,member 2,expressed in melanoma,testis and advanced gastric carcinomas

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0031625ubiquitin protein ligase binding ----
    GO:0042826histone deacetylase binding ----
    GO:0070491repressing transcription factor binding ----
         
    Find genes that share ontologies with MAGEA2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MAGEA2:
     Increased gamma-H2AX phosphory 

    Animal Models:
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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
    MAGA2_HUMAN, P43356: Nucleus. Nucleus, PML body
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0016605PML body ----

    Find genes that share ontologies with MAGEA2           About GenesLikeMe


    (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 MAGEA2
    Interactions:

        GeneGlobe Interaction Network for MAGEA2

    4 Interacting proteins for MAGEA2 (P433561, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC3O153791, 3EBI-5650739,EBI-607682 I2D: score=1 
    TP53P046371, 3EBI-5650739,EBI-366083 I2D: score=1 
    TRIM28Q132631EBI-5650739,EBI-78139
    UBE2HP622561EBI-5650739,EBI-2129909
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0006351transcription, DNA-templated ----
    GO:0033234negative regulation of protein sumoylation ----
    GO:0044257cellular protein catabolic process ----
    GO:0051443positive regulation of ubiquitin-protein ligase activity ----

    Find genes that share ontologies with MAGEA2           About GenesLikeMe



    (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 MAGEA2 (MAGA2)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MAGEA2 gene (7 alternative transcripts): 
    NM_001282501.1  NM_001282502.1  NM_001282504.1  NM_001282505.1  NM_005361.3  NM_175742.2  NM_175743.2  

    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370284 ENST00000480629 ENST00000479268 ENST00000469970 ENST00000543232(uc004fgg.1 uc010ntr.1)
    ENST00000393876(uc004fgi.1) ENST00000393872(uc004fgh.1 uc004fgj.1)

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    Selected AceView cDNA sequences (see all 183):

    BM449726 BM015882 BC003408 BC000340 BC005963 BE795782 BQ436888 BQ226610 
    BX106621 BM479202 BM760598 CA441190 CA415709 CB145878 BM999965 BF791772 
    BE901056 CD557117 BX505148 BI090658 NM_005362 AI222439 CR541774 CR594285 

    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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    MAGEA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MAGEA2 Expression
    About this image

    MAGEA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAGEA2 Protein Expression

    UniProtKB/Swiss-Prot: MAGA2_HUMAN, P43356
    Tissue specificity: Expressed in many tumors of several types, such as melanoma, head and neck squamous cell
    carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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      --

    ENSEMBL Gene Tree for MAGEA2 (if available)
    TreeFam Gene Tree for MAGEA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAGEA2 gene
    MAGEA2B1 2  MAGEC22  MAGEA9B2  MAGEB52  MAGEB162  MAGEB12  MAGEB42  MAGEC12  
    MAGED42  MAGEA82  MAGED22  MAGEA122  MAGEA92  MAGEB172  MAGEB102  MAGEA62  
    MAGED12  MAGEA32  MAGEB22  NDN2  MAGEB32  MAGED4B2  MAGEA42  MAGEA12  
    MAGEA102  MAGEB182  MAGEB62  MAGEL22  TRO2  MAGEA112  NDNL22  MAGEF12  
    Selected SIMAP similar genes for MAGEA2 using alignment to 2 protein entries:     MAGA2_HUMAN (see all proteins) (see all similar genes):
    MAGEA2B    MAGEA12    MAGEA6    MAGEA3    MAGEA5    MAGEA4
    MAGEA8    MAGEA1    MAGEA9    MAGEA9B    MAGEA11    MAGEC3
    TRO    MAGEA13P    MAGEB4    MAGEB5    MAGEB16    MAGE-B1

    Find genes that share paralogs with MAGEA2           About GenesLikeMe



    (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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    9 SNPs for MAGEA2    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2014644391,2
    --151919396(+) ACCTCA/GATGCC 6 I syn10--------
    rs1842360671,2
    --151922194(+) CGACTC/GAGCCT 3 -- ut51 int10--------
    rs2015326571,2
    --151923214(+) GCATG-/ATTC  
            
    ATTCA
    3 -- us2k10--------
    rs3767850541,2
    ----151920732(+) CTCCCG/TCTACT 3 -- int10--------
    rs2007473421,2
    ----151919147(+) TCTTGC/GATGAG 6 I M mis10--------
    rs1474376301,2
    ----151921061(+) AGGGGA/CCACAT 3 -- int10--------
    rs1997645711,2
    ----151919140(+) CACCAA/GATCTT 6 L syn10--------
    rs3688813811,2
    ----151920901(+) CCAGGA/GGTACC 3 -- int10--------
    rs2020356471,2
    ----151919148(+) CTTGCA/GTGAGC 6 T M mis10--------

    HapMap Linkage Disequilibrium report for MAGEA2 (151918387 - 151922364 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MAGEA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2493e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAGEA2
    DNA2.0 Custom Variant and Variant Library Synthesis for MAGEA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300173    OMIM disorders: --

    1 disease for MAGEA2:    
    About MalaCards
    oral squamous cell carcinoma


    Find genes that share disorders with MAGEA2           About GenesLikeMe


    Export disorders for MAGEA2 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 MAGEA2 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with MAGEA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MageA2 restrains cellular senescence by targeting the function of PMLIV/p53 axis at the PML-NBs. (PubMed id 22117195)1, 2 Peche L.Y.... Schneider C. (Cell Death Differ. 2012)
    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. MAGE-A tumor antigens target p53 transactivation function through histone deacetylase recruitment and confer resistance to chemotherapeutic agents. (PubMed id 16847267)1, 2 Monte M.... Schneider C. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    4. 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)
    5. Comparative genome sequence analysis of the Bpa/Str region in mouse and man. (PubMed id 10854409)1, 2 Mallon A.-M....Brown S.D.M. (Genome Res. 2000)
    6. The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28. (PubMed id 8575766)1, 3 Rogner U.C....Poustka A. (Genomics 1995)
    7. Human gene MAGE-3 codes for an antigen recognized on a melanoma by autologous cytolytic T lymphocytes. (PubMed id 8113684)1, 2 Gaugler B.... Boon T. (J. Exp. Med. 1994)
    8. Sequence and expression pattern of the human MAGE2 gene. (PubMed id 8276455)1, 2 De Smet C....Boon T. (Immunogenetics 1994)
    9. A gene encoding an antigen recognized by cytolytic T lymphocytes on a human melanoma. (PubMed id 1840703)1, 3 van der Bruggen P.... Boon T. (Science 1991)
    10. MAGE A1-A6 RT-PCR and MAGE A3 and p16 methylation analysis in induced sputum from patients with lung cancer and non-malignant lung diseases. (PubMed id 22134685)1 Shin K.C....Jeon C.H. (Oncol. Rep. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4101 HGNC: 6800 AceView: MAGEA2andMAGEA3andMAGEA12 Ensembl:ENSG00000184750 euGenes: HUgn4101
    ECgene: MAGEA2 H-InvDB: MAGEA2

    (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 MAGEA2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAGEA2 Genetics and Cytogenetics in Oncology and Haematology

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