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MAGEA2B Gene

protein-coding   GIFtS: 45
GCID: GC0XP151883

Melanoma Antigen Family A, 2B

  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
Melanoma Antigen Family A, 2B1 2     MAGE-2 Antigen2 3
Cancer/Testis Antigen 1.22 3     Melanoma Antigen 22
CT1.22 3     Melanoma Antigen, Family A, 2, Copy B2
MAGE22 3     Melanoma-Associated Antigen 22
MAGEA22 3     MAGEA2A3

External Ids:    HGNC: 193401   Entrez Gene: 2667402   Ensembl: ENSG000001833057   OMIM: 3005495   UniProtKB: P433563   

Export aliases for MAGEA2B gene to outside databases

Previous GC identifers: GC0XP150502 GC0XP151538 GC0XM151670 GC0XP151633


(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 MAGEA2B 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. (provided by RefSeq, Jul 2008)

GeneCards Summary for MAGEA2B Gene:
MAGEA2B (melanoma antigen family A, 2B) is a protein-coding gene. Diseases associated with MAGEA2B include dyskeratosis congenita, and melanoma. GO annotations related to this gene include repressing transcription factor binding and ubiquitin protein ligase binding. 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




(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_000023.11  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAGEA2B gene promoter:
         p53   HNF-1   FOXJ2 (long isoform)   Olf-1   FOXJ2   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAGEA2B promoter sequence
   Search Chromatin IP Primers for MAGEA2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEA2B


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

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

MAGEA2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEA2B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP151883:  view genomic region     (about GC identifiers)

Start:
151,883,082 bp from pter      End:
151,887,096 bp from pter
Size:
4,015 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, 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 MAGEA2B: NX_P43356

Explore proteomics data for MAGEA2B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MAGEA2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_705692.1  
    ENSEMBL proteins: 
     ENSP00000359316   ENSP00000395386   ENSP00000389223   ENSP00000389999   ENSP00000397216  
     ENSP00000413384   ENSP00000386463   ENSP00000333487  

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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


    MAGEA2B 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: 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 Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16847267
    GO:0031625ubiquitin protein ligase binding IDA--
    GO:0042826histone deacetylase binding IDA16847267
    GO:0070491repressing transcription factor binding IDA16847267
         
    MAGEA2B for ontologies           About GeneDecksing


    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
    plasma membrane3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16847267
    GO:0016605PML body IDA--

    MAGEA2B 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 MAGEA2B
    Interactions:

        Search GeneGlobe Interaction Network for MAGEA2B

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for MAGEA2B (P433561, 3 ENSP000003334874) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 3, ENSP000002693054EBI-5650739,EBI-366083 I2D: score=1 STRING: ENSP00000269305
    HDAC3O153791, 3, ENSP000003029674EBI-5650739,EBI-607682 I2D: score=1 STRING: ENSP00000302967
    TRIM28Q132631, ENSP000002530244EBI-5650739,EBI-78139 STRING: ENSP00000253024
    UBE2HP622561EBI-5650739,EBI-2129909
    UBCENSP000003448184STRING: ENSP00000344818
    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 IDA16847267
    GO:0006351transcription, DNA-templated IEA--
    GO:0033234negative regulation of protein sumoylation IDA--
    GO:0044257cellular protein catabolic process IMP--
    GO:0051443positive regulation of ubiquitin-protein ligase activity IMP--

    MAGEA2B 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
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    Browse Tocris compounds for MAGEA2B (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MAGEA2B gene: 
    NM_153488.3  

    Unigene Cluster for MAGEA2B:

    Melanoma antigen family A, 2B
    Hs.534597  [show with all ESTs]
    Unigene Representative Sequence: NM_153488
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000492402 ENST00000370293(uc022chg.1) ENST00000423993 ENST00000447530
    ENST00000458057 ENST00000422085 ENST00000497578 ENST00000453150 ENST00000409560
    ENST00000467743 ENST00000331220(uc004ffx.1 uc004ffy.1 uc004ffz.1 uc010ntm.1 uc004fga.1)

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    Additional mRNA sequence: BC112160.1 

    12 DOTS entries:

    DT.95248471  DT.100815016  DT.100815017  DT.101983920  DT.97848398  DT.121277723  DT.121281043  DT.65284540 
    DT.91772022  DT.121277711  DT.121281045  DT.92011980 

    Selected AceView cDNA sequences (see all 183):

    BQ226610 NM_175743 BQ436888 BE901056 BM846958 BC000340 BC005963 BU622519 
    BF219695 CR594285 CA415709 BC063681 BX106621 BX505148 BQ431490 BM781931 
    NM_005362 BC003408 NM_153488 CB145878 BC017389 BG575302 BM015882 CA488474 

    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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    MAGEA2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATACAAGGAA
    MAGEA2B Expression
    About this image

    MAGEA2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAGEA2B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534597

    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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    (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 MAGEA2B (if available)
    TreeFam Gene Tree for MAGEA2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAGEA2B gene
    MAGEA21 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 MAGEA2B using alignment to 9 protein entries:     MAGA2_HUMAN (see all proteins) (see all similar genes):
    MAGEA2    MAGEA12    MAGEA3    MAGEA6    MAGEA5    MAGEA4
    MAGEA8    MAGEC4    MAGEA11    MAGEA1    MAGEA9    MAGEA9B
    MAGEC3    MAGEA13P    TRO    MAGEB16    MAGEB4    MAGEB5

    MAGEA2B 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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    6 SNPs for MAGEA2B    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2015329931,2
    --151886087(+) GGCATC/TGAGGT 2 I syn10--------
    rs2004594731,2
    ----151886336(+) CTCATC/GCAAGA 2 I M mis10--------
    rs2022319431,2
    ----151886335(+) GCTCAC/TGCAAG 2 T M mis10--------
    rs2011462481,2
    ----151886343(+) AAGATC/TTGGTG 2 L syn10--------
    rs3688537531,2
    ----151884582(+) GGTACC/TCCTGG 1 -- us2k10--------
    rs3713278301,2
    ----151884751(+) AGTAGA/CGGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MAGEA2B (151883082 - 151887096 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MAGEA2B:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2493e1CNV Complex17122850

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300549    OMIM disorders: --

    3 diseases for MAGEA2B:    
    About MalaCards
    dyskeratosis congenita    melanoma    squamous cell carcinoma


    MAGEA2B for disorders           About GeneDecksing


    Export disorders for MAGEA2B 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 MAGEA2B gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with MAGEA2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. Sequence and expression pattern of the human MAGE2 gene. (PubMed id 8276455)1, 2 De Smet C....Boon T. (Immunogenetics 1994)
    8. MageA2 restrains cellular senescence by targeting the function of PMLIV/p53 axis at the PML-NBs. (PubMed id 22117195)2 Peche L.Y.... Schneider C. (Cell Death Differ. 2012)
    9. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)

    (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: 266740 HGNC: 19340 AceView: MAGEA2andMAGEA3andMAGEA12 Ensembl:ENSG00000183305 euGenes: HUgn266740
    ECgene: MAGEA2B H-InvDB: MAGEA2B

    (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 MAGEA2B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAGEA2B Genetics and Cytogenetics in Oncology and Haematology

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