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MAGEA8 Gene

protein-coding   GIFtS: 50
GCID: GC0XP149009

Melanoma Antigen Family A, 8


(Previous symbol: MAGE8)
  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, 81 2     Cancer/Testis Antigen Family 11
MAGE81 2 3 5     Member 81
MAGE-8 Antigen1 2 3     Cancer/Testis Antigen Family 1, Member 82
Cancer/Testis Antigen 1.82 3     Melanoma-Associated Antigen 82
CT1.82 3     

External Ids:    HGNC: 68061   Entrez Gene: 41072   Ensembl: ENSG000001560097   OMIM: 3003415   UniProtKB: P433613   

Export aliases for MAGEA8 gene to outside databases

Previous GC identifers: GC0XP143633 GC0XP146013 GC0XP146853 GC0XP147668 GC0XP148668 GC0XP148770


(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 MAGEA8 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. Multiple alternatively spliced variants, encoding
the same protein, have been identified. (provided by RefSeq, Oct 2009)

GeneCards Summary for MAGEA8 Gene:
MAGEA8 (melanoma antigen family A, 8) is a protein-coding gene. Diseases associated with MAGEA8 include dyskeratosis congenita, and melanoma. An important paralog of this gene is MAGEC2.

UniProtKB/Swiss-Prot: MAGA8_HUMAN, P43361
Function: Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor
progression




(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 MAGEA8 gene promoter:
         p53   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAGEA8 promoter sequence
   Search Chromatin IP Primers for MAGEA8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEA8


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

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

MAGEA8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEA8 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP149009:  view genomic region     (about GC identifiers)

Start:
149,009,941 bp from pter      End:
149,014,609 bp from pter
Size:
4,669 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: MAGA8_HUMAN, P43361 (See protein sequence)
Recommended Name: Melanoma-associated antigen 8  
Size: 318 amino acids; 35215 Da
Secondary accessions: Q9BUN9

Explore the universe of human proteins at neXtProt for MAGEA8: NX_P43361

Explore proteomics data for MAGEA8 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys288
  • Modification sites at PhosphoSitePlus

  • See MAGEA8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001159872.1  NP_001159873.1  NP_005355.2  

    ENSEMBL proteins: 
     ENSP00000286482   ENSP00000438293   ENSP00000443776  

    MAGEA8 Human Recombinant Protein Products:

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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 P43361

    ProtoNet protein and cluster: P43361

    UniProtKB/Swiss-Prot: MAGA8_HUMAN, P43361
    Similarity: Contains 1 MAGE domain


    MAGEA8 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: MAGA8_HUMAN, P43361
    Function: Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor
    progression

         Genatlas biochemistry entry for MAGEA8:
    human melanoma antigen,family A,member 8,expressed in melanoma,testis

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    MAGEA8 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAGEA8
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAGEA8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAGEA8

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGEA8


    (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
    cytosol3
    nucleus1

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

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

    MAGEA8 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 MAGEA8
    Interactions:

        Search GeneGlobe Interaction Network for MAGEA8

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

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

    MAGEA8 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 MAGEA8 (MAGA8)



    (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 MAGEA8 gene (3 alternative transcripts): 
    NM_001166400.1  NM_001166401.1  NM_005364.4  

    Unigene Cluster for MAGEA8:

    Melanoma antigen family A, 8
    Hs.522803  [show with all ESTs]
    Unigene Representative Sequence: NM_001166400
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000286482 ENST00000345830 ENST00000493910 ENST00000535454(uc022cgo.1)
    ENST00000542674(uc004fdw.2 uc022cgp.1)
    miRNA
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    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for MAGEA8
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      QuantiTect SYBR Green Assays in human, mouse, rat MAGEA8
      QuantiFast Probe-based Assays in human, mouse, rat MAGEA8

    Additional mRNA sequence: 

    AK313943.1 BC002455.2 BC012744.2 BC098120.1 BT007340.1 

    2 DOTS entries:

    DT.207126  DT.100768791 

    Selected AceView cDNA sequences (see all 33):

    BX360398 BI092675 BC012744 AA045817 CR619399 NM_005364 BQ434005 BC002455 
    BU188475 BX399615 BE388427 AI032153 BE407511 BE275893 BE892022 BE729897 
    BT007340 CF994013 BI087522 BX102591 BI087592 BX417414 BG481340 BE727811 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MAGEA8    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c
    SP1:                    -                           
    SP2:              -     -                           
    SP3:              -                                 


    ECgene alternative splicing isoforms for MAGEA8

    (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 Genevestigator, and/or 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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    MAGEA8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATAAAGAC
    MAGEA8 Expression
    About this image

    MAGEA8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAGEA8 Protein Expression

    Genevestigator expression for MAGEA8

    SOURCE GeneReport for Unigene cluster: Hs.522803

    UniProtKB/Swiss-Prot: MAGA8_HUMAN, P43361
    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 testis and placenta

        Custom PCR Arrays for MAGEA8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGEA8

    (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 MAGEA8 (if available)
    TreeFam Gene Tree for MAGEA8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAGEA8 gene
    MAGEC22  MAGEA9B2  MAGEB52  MAGEB162  MAGEB12  MAGEB42  MAGEC12  MAGED42  
    MAGED22  MAGEA122  MAGEA92  MAGEB172  MAGEB102  MAGEA62  MAGED12  MAGEA22  
    MAGEA32  MAGEB22  NDN2  MAGEB32  MAGED4B2  MAGEA42  MAGEA12  MAGEA102  
    MAGEB182  MAGEA2B2  MAGEB62  MAGEL22  TRO2  MAGEA112  NDNL22  MAGEF12  
    Selected SIMAP similar genes for MAGEA8 using alignment to 3 protein entries:     MAGA8_HUMAN (see all proteins) (see all similar genes):
    MAGEA9B    MAGEA9    MAGEA12    MAGEA4    MAGEA1    MAGEA2B
    MAGEA2    MAGEA6    MAGEA11    MAGEA3    MAGEC4    MAGEA5
    MAGEB16    MAGEC3    MAGEH1    MAGEC1    MAGE-B1    MAGEA13P

    MAGEA8 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MAGEA8
    PGOHUM00000260994


    (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 MAGEA8 (see all 112)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1504101791,2
    C--148914412(+) AAATGA/GAGATT 3 -- us2k10--------
    rs1146895971,2
    C--148914531(+) CTACCA/GTTCAC 3 -- us2k10--------
    rs1495924101,2
    --148914594(+) AAGAGA/GTATGA 3 -- us2k10--------
    rs1433194351,2
    --148914610(+) GAAAAG/TAAATA 3 -- us2k10--------
    rs1868692551,2
    --148914712(+) TACAAA/GGACCA 3 -- us2k10--------
    rs1915301871,2
    --148914748(+) ACAGAC/TGAGCA 3 -- us2k10--------
    rs66413851,2
    C,H--148914876(+) gctgaC/Gagatt 3 -- us2k14Minor allele frequency- G:0.00NS EA 400
    rs59839131,2
    C,F,A,H--148915124(+) AAACAT/GAGAAA 3 -- us2k15Minor allele frequency- G:0.04NS EA WA CSA 301
    rs1463902571,2
    --148915429(+) CTATTA/GTTTTA 3 -- us2k10--------
    rs1822329901,2
    --148915535(+) ACATAC/TATATA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for MAGEA8 (149009941 - 149014609 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MAGEA8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv22974CNV Gain19812545
    nsv525908CNV Gain19592680
    essv14876CNV CNV17122850
    nsv442819CNV CNV18776908
    nsv515182CNV Complex21397061

    Locus Specific Mutation Databases (LSDB): MAGEA8

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAGEA8
    DNA2.0 Custom Variant and Variant Library Synthesis for MAGEA8

    (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.)
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    OMIM gene information: 300341    OMIM disorders: --

    3 diseases for MAGEA8:    About MalaCards
    dyskeratosis congenita    melanoma    squamous cell carcinoma


    MAGEA8 for disorders           About GeneDecksing


    Export disorders for MAGEA8 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 MAGEA8 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with MAGEA8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Structure, chromosomal localization, and expression of 12 genes of the MAGE family. (PubMed id 7927540)1, 2 De Plaen E.... Boon T. (Immunogenetics 1994)
    3. 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)
    4. 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)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    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. Quantitative evaluation of the expression of MAGE genes in tumors by limiting dilution of cDNA libraries. (PubMed id 10521804)1 Serrano A....Boon T. (Int. J. Cancer 1999)
    10. Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)1 Hillier L.D....Marra M. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 4107 HGNC: 6806 AceView: MAGEA8 Ensembl:ENSG00000156009 euGenes: HUgn4107
    ECgene: MAGEA8 H-InvDB: MAGEA8

    (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 MAGEA8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAGEA8 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAGEA8 gene:
    Search GeneIP for patents involving MAGEA8

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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