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MAGEA9 Gene

protein-coding   GIFtS: 52
GCID: GC0XP148863

Melanoma Antigen Family A, 9


(Previous symbol: MAGE9)
  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, 91 2     CT1.92 3
MAGE91 2 3 5     Cancer/Testis Antigen Family 11
MAGE-9 Antigen1 2 3     Member 91
Melanoma-Associated Antigen 91 2     Cancer/Testis Antigen Family 1, Member 92
Cancer/Testis Antigen 1.92 3     MAGEA9A3

External Ids:    HGNC: 68071   Entrez Gene: 41082   Ensembl: ENSG000001660087   OMIM: 3003425   UniProtKB: P433623   

Export aliases for MAGEA9 gene to outside databases

Previous GC identifers: GC0XP143533 GC0XP145914 GC0XP146754 GC0XP147569 GC0XP148569 GC0XP148671 GC0XM137617


(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 MAGEA9 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. (provided by RefSeq, Jul 2008)

GeneCards Summary for MAGEA9 Gene:
MAGEA9 (melanoma antigen family A, 9) is a protein-coding gene. Diseases associated with MAGEA9 include terminal osseous dysplasia, and enophthalmos. An important paralog of this gene is MAGEC2.

UniProtKB/Swiss-Prot: MAGA9_HUMAN, P43362
Function: Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor
progression

Gene Wiki entry for MAGEA9 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  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAGEA9 gene promoter:
         Nkx3-1   GR   Pbx1a   SREBP-1c   GR-beta   LCR-F1   HNF-3beta   SREBP-1b   SREBP-1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAGEA9 promoter sequence
   Search Chromatin IP Primers for MAGEA9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEA9


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

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

MAGEA9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEA9 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP148863:  view genomic region     (about GC identifiers)

Start:
148,863,584 bp from pter      End:
148,869,399 bp from pter
Size:
5,816 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: MAGA9_HUMAN, P43362 (See protein sequence)
Recommended Name: Melanoma-associated antigen 9  
Size: 315 amino acids; 35088 Da
Secondary accessions: A8K8A7 Q7Z5K4 Q92910

Explore the universe of human proteins at neXtProt for MAGEA9: NX_P43362

Explore proteomics data for MAGEA9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MAGEA9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005356.1  
    ENSEMBL proteins: 
     ENSP00000430634   ENSP00000298974   ENSP00000428234   ENSP00000430957   ENSP00000427988  

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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 P43362

    ProtoNet protein and cluster: P43362

    1 Blocks protein domain: IPB002190 MAGE protein

    UniProtKB/Swiss-Prot: MAGA9_HUMAN, P43362
    Similarity: Contains 1 MAGE domain


    MAGEA9 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: MAGA9_HUMAN, P43362
    Function: Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor
    progression

         Genatlas biochemistry entry for MAGEA9:
    human melanoma antigen,family A,member 9,expressed in melanoma,testis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ----
         
    MAGEA9 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MAGEA9:
     Decreased Hepatitis C virus re 

    Animal Models:
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    miRTarBase miRNAs that target MAGEA9:
    hsa-mir-26b-5p (MIRT028771)

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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

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

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

    MAGEA9 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 MAGEA9
    Interactions:

        Search GeneGlobe Interaction Network for MAGEA9

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

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

    MAGEA9 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 MAGEA9 (MAGA9)



    (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 MAGEA9 gene: 
    NM_005365.4  

    Unigene Cluster for MAGEA9:

    Melanoma antigen family A, 9
    Hs.512582  [show with all ESTs]
    Unigene Representative Sequence: NM_005365
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000439010 ENST00000298974(uc004fdv.3) ENST00000522429 ENST00000519822
    ENST00000523516
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MAGEA9
      QuantiFast Probe-based Assays in human, mouse, rat MAGEA9

    5 DOTS entries:

    DT.121317502  DT.92418006  DT.100735256  DT.95328000  DT.100768078 

    15 AceView cDNA sequences:

    BC002351 CB121911 BE793498 NM_005365 AW249285 BG288125 BX365439 BX362002 
    AI830281 CA431031 AY310325 AL557512 BI561505 BF220321 AW248864 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MAGEA9    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e
    SP1:                    -     -                                             
    SP2:                          -                                             
    SP3:                                                                        
    SP4:                    -     -     -                                       
    SP5:                          -     -                                       


    ECgene alternative splicing isoforms for MAGEA9

    (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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    MAGEA9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAGAGAAAT
    MAGEA9 Expression
    About this image

    MAGEA9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAGEA9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512582

    UniProtKB/Swiss-Prot: MAGA9_HUMAN, P43362
    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 and placenta

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    In Situ
    Assay Products:
     

     
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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 MAGEA9 (if available)
    TreeFam Gene Tree for MAGEA9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAGEA9 gene
    MAGEA9B1 2  MAGEC22  MAGEB52  MAGEB162  MAGEB12  MAGEB42  MAGEC12  MAGED42  
    MAGEA82  MAGED22  MAGEA122  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 MAGEA9 using alignment to 5 protein entries:     MAGA9_HUMAN (see all proteins) (see all similar genes):
    MAGEA9B    MAGEA8    MAGEC4    MAGEA12    MAGEA2    MAGEA6
    MAGEA2B    MAGEA11    MAGEA3    MAGEA4    MAGEC1    MAGEC3
    MAGEA5    TRO    MAGEB1    MAGEB17    MAGEB4    MAGEB5

    MAGEA9 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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    7 SNPs for MAGEA9    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1888837621,2
    C--148867791(+) CACACA/GCTCCC 1 -- int10--------
    VAR_0641604
    ----see VAR_0641602 P H mis40--------
    rs3750670351,2
    ----148865222(+) CAGATA/GGAGAC 1 -- int10--------
    rs3708484531,2
    ----148862770(+) TACATA/GTAAGC 1 -- us2k10--------
    rs3699496521,2
    ----148864488(+) TCACCC/GCCCCC 1 -- int10--------
    rs2008450781,2
    ----148868755(+) ATGCAA/GGAGAG 2 R G mis10--------
    rs3746179381,2
    ----148864491(+) CCCCCC/GCCCAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for MAGEA9 (148863584 - 148869399 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MAGEA9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508809CNV Insertion20534489
    nsv818041CNV Gain17921354
    nsv525908CNV Gain19592680
    nsv518742CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAGEA9
    DNA2.0 Custom Variant and Variant Library Synthesis for MAGEA9

    (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: 300342    OMIM disorders: --

    7 diseases for MAGEA9:    
    About MalaCards
    terminal osseous dysplasia    enophthalmos    dyskeratosis congenita    melanoma
    hypoxia    renal cell carcinoma    squamous cell carcinoma

    1 disease from the University of Copenhagen DISEASES database for MAGEA9:
    Enophthalmos

    MAGEA9 for disorders           About GeneDecksing


    Export disorders for MAGEA9 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 MAGEA9 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with MAGEA9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Molecular and phenotypic variation in patients with severe Hunter syndrome. (PubMed id 9147653)1, 2 Timms K.M.... Gibbs R.A. (Hum. Mol. Genet. 1997)
    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. Structure, chromosomal localization, and expression of 12 genes of the MAGE family. (PubMed id 7927540)1, 2 De Plaen E.... Boon T. (Immunogenetics 1994)
    5. 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)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. 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)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. (PubMed id 20598277)2 Sun Y....Breuning M.H. (Am. J. Hum. Genet. 2010)
    10. Melanoma antigen-11 inhibits the hypoxia-inducible factor prolyl hydroxylase 2 and activates hypoxic response. (PubMed id 19147576)1 Aprelikova O....Niederhuber J. (Cancer Res. 2009)

    (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: 4108 HGNC: 6807 AceView: MAGEA9 Ensembl:ENSG00000166008 euGenes: HUgn4108
    ECgene: MAGEA9 H-InvDB: MAGEA9

    (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 MAGEA9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAGEA9 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 MAGEA9 gene:
    Search GeneIP for patents involving MAGEA9

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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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