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MAGEA9B Gene

protein-coding   GIFtS: 40
GCID: GC0XM148663

Melanoma Antigen Family A, 9B

  See MAGEA9B-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, 9B1 2     Melanoma-Associated Antigen 92
Cancer/Testis Antigen 1.92 3     MAGE93
CT1.92 3     MAGEA9A3
MAGE-9 Antigen2 3     

External Ids:    HGNC: 319091   Entrez Gene: 7282692   Ensembl: ENSG000001235847   OMIM: 3007645   UniProtKB: P433623   

Export aliases for MAGEA9B gene to outside databases

Previous GC identifers: GC0XM148471 GC00U922286


(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 MAGEA9B Gene:
MAGEA9B is a duplication of the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about
194 kb (Hartz, 2009).(supplied by OMIM, Mar 2009)

GeneCards Summary for MAGEA9B Gene:
MAGEA9B (melanoma antigen family A, 9B) is a protein-coding gene. Diseases associated with MAGEA9B include enophthalmos, and terminal osseous dysplasia. 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




(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 at NCBI GenBank:
NC_000023.10  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAGEA9B gene promoter:
         Nkx3-1   GR   Pbx1a   SREBP-1c   GR-beta   LCR-F1   HNF-3beta   SREBP-1b   SREBP-1a   GR-alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEA9B


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xp11

MAGEA9B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEA9B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM148663:  view genomic region     (about GC identifiers)

Start:
148,663,309 bp from pter      End:
148,669,116 bp from pter
Size:
5,808 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: 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 MAGEA9B: NX_P43362

Explore proteomics data for MAGEA9B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys243
  • Modification sites at PhosphoSitePlus

  • See MAGEA9B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001074259.1  
    ENSEMBL proteins: 
     ENSP00000243314  

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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


    Find genes that share domains with MAGEA9B           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: MAGA9_HUMAN, P43362
    Function: Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor
    progression

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with MAGEA9B           About GenesLikeMe


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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 ND--

    Find genes that share ontologies with MAGEA9B           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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    Interactions:

        Search GeneGlobe Interaction Network for MAGEA9B

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

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

    Find genes that share ontologies with MAGEA9B           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 MAGEA9B (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,
    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 MAGEA9B gene: 
    NM_001080790.1  

    Unigene Cluster for MAGEA9B:

    Melanoma antigen family A, 9B
    Hs.460974  [show with all ESTs]
    Unigene Representative Sequence: BC002351
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000243314(uc004fdk.3)
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      QuantiFast Probe-based Assays in human, mouse, rat MAGEA9B

    Additional mRNA sequence: 

    AK292272.1 AK313321.1 AY310325.1 BC002351.2 BC098100.1 

    2 DOTS entries:

    DT.92418006  DT.121317502 

    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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    MAGEA9B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MAGEA9B Expression
    About this image

    MAGEA9B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAGEA9B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.460974

    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:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGEA9B

    (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 MAGEA9B (if available)
    TreeFam Gene Tree for MAGEA9B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAGEA9B gene
    MAGEA91 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 MAGEA9B using alignment to 1 protein entry:     MAGA9_HUMAN(see all similar genes):
    MAGEA9    MAGEA8    MAGEC4    MAGEA4    MAGEA12    MAGEA11
    MAGEA1    MAGEA2    MAGEA6    MAGEA2B    MAGEA3    MAGEA10
    MAGEA5    MAGEB16    MAGEC1    MAGE-B1    MAGEB1    MAGEB17

    Find genes that share paralogs with MAGEA9B           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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    10 SNPs for MAGEA9B    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3758557911,2
    ----148667486(+) GTCTCC/TATCTG 1 -- int10--------
    rs3724937831,2
    ----148664829(+) CTCGAA/GAGACA 2 L F mis10--------
    rs2002941651,2
    ----148670470(+) ATGGGG/TTTTTT 1 -- us2k10--------
    rs2021465131,2
    ----148664744(+) CTGTGG/TGTTCC 2 H P mis10--------
    rs3773731491,2
    ----148670469(+) GATGGG/TTTTTT 1 -- us2k10--------
    rs1507046661,2
    ----148665362(+) CAAGAC/GGGCGG 1 -- int10--------
    rs3759053231,2
    ----148668221(+) GGGGGC/GGTGAG 1 -- int10--------
    rs3699651711,2
    ----148667502(+) TTCCCG/TAGGCT 1 -- int10--------
    rs2019696211,2
    ----148669040(+) GCCTCA/GGCCAG 1 -- int10--------
    rs3743847381,2
    ----148664883(+) CTGGGC/TGATGG 1 -- ut510--------

    HapMap Linkage Disequilibrium report for MAGEA9B (148663309 - 148669116 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MAGEA9B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508809CNV Insertion20534489
    nsv818041CNV Gain17921354
    nsv525908CNV Gain19592680
    nsv518742CNV Gain19592680

    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: 300764    OMIM disorders: --

    2 diseases for MAGEA9B:    
    About MalaCards
    enophthalmos    terminal osseous dysplasia

    1 disease from the University of Copenhagen DISEASES database for MAGEA9B:
    Enophthalmos

    Find genes that share disorders with MAGEA9B           About GenesLikeMe


    Export disorders for MAGEA9B 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 MAGEA9B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with MAGEA9B)
        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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. 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)
    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. 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)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. 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)
    8. The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28. (PubMed id 8575766)1 Rogner U.C....Poustka A. (Genomics 1995)

    (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: 728269 HGNC: 31909 Ensembl:ENSG00000123584 euGenes: HUgn728269 ECgene: MAGEA9B
    H-InvDB: MAGEA9B

    (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 MAGEA9B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAGEA9B gene:
    Search GeneIP for patents involving MAGEA9B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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