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MAGEA6 Gene

protein-coding   GIFtS: 53
GCID: GC0XP151867

Melanoma Antigen Family A, 6


(Previous symbol: MAGE6)
  See related diseases
at
MalaCards
 

Aliases
for MAGEA6 gene

(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, 61 2     Cancer/Testis Antigen Family 11
MAGE61 2 3 5     Melanoma Antigen Family A 61
MAGE-6 Antigen1 2 3     Member 61
Melanoma-Associated Antigen 61 2     MAGE-3b2
Cancer/Testis Antigen 1.62 3     MAGE3B2
CT1.62 3     Cancer/Testis Antigen Family 1, Member 62
MAGE3B Antigen2 3     

External Ids:    HGNC: 68041   Entrez Gene: 41052   Ensembl: ENSG000001971727   OMIM: 3001765   UniProtKB: P433603   

Export aliases for MAGEA6 gene to outside databases

Previous GC identifers: GC0XU990097 GC0XP148524 GC0XP149615 GC0XM150553 GC0XP150484 GC0XP151537 GC0XP151617


Summaries
for MAGEA6 gene

(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 MAGEA6 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. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Aug 2013)

GeneCards Summary for MAGEA6 Gene:
MAGEA6 (melanoma antigen family A, 6) is a protein-coding gene. Diseases associated with MAGEA6 include terminal osseous dysplasia, and oral squamous cell carcinoma. An important paralog of this gene is MAGEC2.

UniProtKB/Swiss-Prot: MAGA6_HUMAN, P43360
Function: Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein
ligases. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28.
Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate
complex. May play a role in tumor transformation or aspects of tumor progression. In vitro promotes cell
viability in melanoma cell lines




Genomic Views
for MAGEA6 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_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAGEA6 gene promoter:
         Bach1   p53   Olf-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MAGEA6 promoter sequence
   Search Chromatin IP Primers for MAGEA6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEA6


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

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

MAGEA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEA6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP151867:  view genomic region     (about GC identifiers)

Start:
 151,867,214 bp from pter      End:
 151,870,825 bp from pter
Size:
 3,612 bases      Orientation:
 plus strand

Proteins
for MAGEA6 gene

(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: MAGA6_HUMAN, P43360 (See protein sequence)
Recommended Name: Melanoma-associated antigen 6  
Size: 314 amino acids; 34891 Da
Subunit: Interacts with TRIM28
Caution: In vitro experiments by PubMed:17942928 measuring cell viability in melanoma cell lines used siRNA
specific for MAGEA3 and MAGEA6
Secondary accessions: A8IF93 Q6NW44

Explore the universe of human proteins at neXtProt for MAGEA6: NX_P43360

Explore proteomics data for MAGEA6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See MAGEA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005354.1  NP_787064.1  

    ENSEMBL proteins: 
     ENSP00000329199   ENSP00000403303   ENSP00000401806  

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    Domains /
    Families
    for MAGEA6 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 2 InterPro protein domains:
     IPR021072 Melanoma_ass_antigen_N
     IPR002190 MAGE

    Graphical View of Domain Structure for InterPro Entry P43360

    ProtoNet protein and cluster: P43360

    1 Blocks protein domain: IPB002190 MAGE protein

    UniProtKB/Swiss-Prot: MAGA6_HUMAN, P43360
    Similarity: Contains 1 MAGE domain


    MAGEA6 for domains           About GeneDecksing


    Function
    for MAGEA6 gene

    (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: MAGA6_HUMAN, P43360
    Function: Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein
    ligases. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28.
    Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate
    complex. May play a role in tumor transformation or aspects of tumor progression. In vitro promotes cell
    viability in melanoma cell lines

         Genatlas biochemistry entry for MAGEA6:
    human melanoma antigen,family A,member 6,expressed in melanoma,testis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI--
         
    MAGEA6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MAGEA6:
     Decreased melanin production 

    Animal Models:
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    Inhib. RNA
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    Localization
    for MAGEA6 gene

    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    MAGEA6 for ontologies           About GeneDecksing


    Pathways & Interactions
    for MAGEA6 gene

    (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 MAGEA6
    Interactions:

        Search GeneGlobe Interaction Network for MAGEA6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MAGEA6 (P433601, 3 ENSP000003291994) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000137313Q128993I2D: score=1 
    ENSG00000226060Q128993I2D: score=1 
    ENSG00000228881Q128993I2D: score=1 
    ENSG00000230230Q128993I2D: score=1 
    ENSG00000231002Q128993I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    MAGEA6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MAGEA6 gene

    (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 MAGEA6 (MAGA6)



    Transcripts
    for MAGEA6 gene

    (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 MAGEA6 gene (2 alternative transcripts): 
    NM_005363.2  NM_175868.1  

    Unigene Cluster for MAGEA6:

    Melanoma antigen family A, 6
    Hs.441113  [show with all ESTs]
    Unigene Representative Sequence: BX640600
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000329342(uc004ffq.1 uc004ffr.1) ENST00000412733 ENST00000457643

    miRNA
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    Additional mRNA sequence: 

    AK289437.1 BC041599.1 BC067731.1 BX640600.1 D32076.1 EU161101.1 U10339.1 

    8 DOTS entries:

    DT.208961  DT.91772022  DT.91861095  DT.100777809  DT.97795237  DT.100029589  DT.100699310  DT.100777807 

    Selected AceView cDNA sequences (see all 183):

    BC011744 BI090658 BC063681 CD557117 BM762699 AI222439 BM999965 BM479202 
    BM781931 BC000340 BM449726 BF791772 NM_175742 CB145878 BM760598 BX106621 
    BE279401 BM015882 BG575302 BQ226610 NM_005362 NM_175743 BE795782 BE901056 

    GeneLoc Exon Structure


    Expression
    for MAGEA6 gene

    (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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    MAGEA6 expression in normal human tissues (normalized intensities)      MAGEA6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MAGEA6 Expression
    About this image


    MAGEA6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Testis (Reproductive System)
    MAGEA6 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    MAGEA6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.441113

    UniProtKB/Swiss-Prot: MAGA6_HUMAN, P43360
    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
    for MAGEA6 gene

    (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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    TryGeneCards Plus    		   --

    ENSEMBL Gene Tree for MAGEA6 (if available)
    TreeFam Gene Tree for MAGEA6 (if available)

    Paralogs
    for MAGEA6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAGEA6 gene
    MAGEA31 2  MAGEC22  MAGEA9B2  MAGEB52  MAGEB162  MAGEB12  MAGEB42  MAGEC12  
    MAGED42  MAGEA82  MAGED22  MAGEA122  MAGEA92  MAGEB172  MAGEB102  MAGED12  
    MAGEA22  MAGEB22  NDN2  MAGEB32  MAGED4B2  MAGEA42  MAGEA12  MAGEA102  
    MAGEB182  MAGEA2B2  MAGEB62  MAGEL22  TRO2  MAGEA112  NDNL22  MAGEF12  
    Selected SIMAP similar genes for MAGEA6 using alignment to 5 protein entries:     MAGA6_HUMAN (see all proteins) (see all similar genes):
    MAGEA3    MAGEA12    MAGEA2B    MAGEA2    MAGEA5    MAGEA4
    MAGEA8    MAGEA9B    MAGEA9    MAGEA1    MAGEA11    MAGEC4
    MAGEC3    MAGEH1    MAGEA13P    TRO    MAGEC1    MAGEB5

    MAGEA6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MAGEA6
    PGOHUM00000241601


    Genomic Variants
    for MAGEA6 gene

    (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 MAGEA6 (see all 76)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1998042841,2
    		C--151865347(+) AGGGG-/AAAAAA 2 -- us2k10--------
    rs2015308551,2
    		--151865980(+) TGAAA-/TTACAT 2 -- us2k10--------
    rs1444813821,2
    		C,F--151869488(+) CACCAG/CATCCT 4 /H /D mis11Minor allele frequency- C:0.00NA 3032
    rs1496738971,2
    		C--151869619(+) GAGTCC/TAGTTC 4 S syn10--------
    rs1426349541,2
    		--151869647(+) GGAAGG/TTGGCC 4 V L mis10--------
    rs1505573421,2
    		C,F--151869653(+) TGGCCA/GAGTTG 4 K E mis11Minor allele frequency- G:0.00NA 4542
    rs1406607901,2
    		C,F--151869684(+) GTATCG/AAGCCA 4 /Q /R mis11Minor allele frequency- A:0.00NA 4552
    rs1478796391,2
    		C--151869718(+) ATGCTG/AGGGAG 4 /L syn11Minor allele frequency- A:0.00NA 4552
    rs1414939431,2
    		F--151869727(+) AGTGTC/TGTCGG 4 V syn11Minor allele frequency- T:0.00NA 4552
    rs1500148781,2
    		C,F--151869731(+) TCGTCG/AGAAAT 4 /R /G mis11Minor allele frequency- A:0.00NA 4552

    HapMap Linkage Disequilibrium report for MAGEA6 (151867214 - 151870825 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MAGEA6: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MAGEA6
    DNA2.0 Custom Variant and Variant Library Synthesis for MAGEA6

    Disorders / Diseases
    for MAGEA6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 300176    OMIM disorders: --

    7 diseases for MAGEA6:    About MalaCards
    terminal osseous dysplasia    oral squamous cell carcinoma    dyskeratosis congenita    melanoma
    renal cell carcinoma    squamous cell carcinoma    lung cancer

    1 disease from the University of Copenhagen DISEASES database for MAGEA6:
    Melanoma

    MAGEA6 for disorders           About GeneDecksing


    Export disorders for MAGEA6 gene to outside databases

    Publications
    for MAGEA6 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for MAGEA6 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with MAGEA6)    		    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. 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)
    3. 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)
    4. Sequence analysis of the MAGE gene family encoding human tumor- rejection antigens. (PubMed id 7642112)1, 2 Imai Y.... Itoh K. (Gene 1995)
    5. Cloning and analysis of MAGE-1-related genes. (PubMed id 8037761)1, 2 Ding M.... Fenton R.G. (Biochem. Biophys. Res. Commun. 1994)
    6. Structure, chromosomal localization, and expression of 12 genes of the MAGE family. (PubMed id 7927540)1, 2 De Plaen E.... Boon T. (Immunogenetics 1994)
    7. MAGE-6 encodes HLA-DRbeta1*0401-presented epitopes recognized by CD4+ T cells from patients with melanoma or renal cell carcinoma. (PubMed id 12631591)1, 9 Tatsumi T....Storkus W.J. (Clin. Cancer Res. 2003)
    8. 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)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Identification of novel MAGE-A6- and MAGE-A12-derived HLA-A24-restricted cytotoxic T lymphocyte epitopes using an in silico peptide-docking assay. (PubMed id 22707303)1 Akiyama Y....Yamaguchi K. (Cancer Immunol. Immunother. 2012)

    External Searches for MAGEA6 gene

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    Entrez Gene: 4105 HGNC: 6804 AceView: MAGEA2andMAGEA3andMAGEA12 Ensembl:ENSG00000197172 euGenes: HUgn4105
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    Specialized Databases showing MAGEA6 gene

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