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MAGEA12 Gene

protein-coding   GIFtS: 53
GCID: GC0XM151899

Melanoma Antigen Family A, 12


(Previous symbol: MAGE12)
  See MAGEA12-related disease
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, 121 2     Cancer/Testis Antigen Family 11
MAGE121 2 3 5     Member 121
Cancer/Testis Antigen 1.122 3     Cancer/Testis Antigen Family 1, Member 122
CT1.122 3     Melanoma-Associated Antigen 122
MAGE12F Antigen2 3     MAGE-12 Antigen3

External Ids:    HGNC: 67991   Entrez Gene: 41112   Ensembl: ENSG000002134017   OMIM: 3001775   UniProtKB: P433653   

Export aliases for MAGEA12 gene to outside databases

Previous GC identifers: GC0XM146239 GC0XM148556 GC0XM149647 GC0XM150516 GC0XM151476 GC0XM151628 GC0XM151649 GC0XM140701


(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 MAGEA12 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 MAGEA12 Gene:
MAGEA12 (melanoma antigen family A, 12) is a protein-coding gene. Diseases associated with MAGEA12 include oral squamous cell carcinoma. An important paralog of this gene is MAGEC2.

UniProtKB/Swiss-Prot: MAGAC_HUMAN, P43365
Function: Not known, though may play a role tumor transformation or progression. In vitro promotes cell viability
in melanoma cell lines

Gene Wiki entry for MAGEA12 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 MAGEA12 gene promoter:
         TBP   p53   POU2F1   POU2F1a   TFIID   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAGEA12 promoter sequence
   Search Chromatin IP Primers for MAGEA12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEA12


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

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

MAGEA12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEA12 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM151899:  view genomic region     (about GC identifiers)

Start:
151,899,293 bp from pter      End:
151,903,184 bp from pter
Size:
3,892 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: MAGAC_HUMAN, P43365 (See protein sequence)
Recommended Name: Melanoma-associated antigen 12  
Size: 314 amino acids; 34836 Da
Secondary accessions: Q9NSD3

Explore the universe of human proteins at neXtProt for MAGEA12: NX_P43365

Explore proteomics data for MAGEA12 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys244
  • Modification sites at PhosphoSitePlus

  • See MAGEA12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001159858.1  NP_001159859.1  NP_005358.2  

    ENSEMBL proteins: 
     ENSP00000350592   ENSP00000377447   ENSP00000377478  

    MAGEA12 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 P43365

    ProtoNet protein and cluster: P43365

    1 Blocks protein domain: IPB002190 MAGE protein

    UniProtKB/Swiss-Prot: MAGAC_HUMAN, P43365
    Similarity: Contains 1 MAGE domain


    Find genes that share domains with MAGEA12           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: MAGAC_HUMAN, P43365
    Function: Not known, though may play a role tumor transformation or progression. In vitro promotes cell viability
    in melanoma cell lines

         Genatlas biochemistry entry for MAGEA12:
    human melanoma antigen,family A,member 12,expressed in melanoma,testis

         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 MAGEA12           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MAGEA12:
     Decreased circadian period len 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAGEA12
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    miRNA
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    miRTarBase miRNAs that target MAGEA12:
    hsa-mir-34a-5p (MIRT004109)

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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
    cytosol2
    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 MAGEA12           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MAGEA12
    Interactions:

        Search GeneGlobe Interaction Network for MAGEA12

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for MAGEA12 (P433652, 3 ENSP000003505924) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STAT5AP422292, 3, ENSP000003412084MINT-67540 I2D: score=5 STRING: ENSP00000341208
    NPPAP011603I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    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 MAGEA12           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 MAGEA12 (MAGAC)



    (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 MAGEA12 gene (3 alternative transcripts): 
    NM_001166386.2  NM_001166387.2  NM_005367.5  

    Unigene Cluster for MAGEA12:

    Melanoma antigen family A, 12
    Hs.169246  [show with all ESTs]
    Unigene Representative Sequence: NM_001166386
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357916(uc004fgc.3) ENST00000393869(uc022chi.1) ENST00000393900(uc010ntp.3)

    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MAGEA12
      QuantiFast Probe-based Assays in human, mouse, rat MAGEA12

    Additional mRNA sequence: 

    AK314168.1 BC003408.2 BC013171.1 BC098146.1 BT007108.1 CR541775.1 NR_073432.1 

    4 DOTS entries:

    DT.441466  DT.95280682  DT.95248475  DT.91772013 

    Selected AceView cDNA sequences (see all 183):

    NM_153488 BG575302 BM760598 BU182773 BC011744 BE279401 CD557117 BI090658 
    BC063681 BM549169 BM846958 AA905896 BM999965 BQ436888 BM015882 CA488474 
    BF791772 BE795782 BX505148 BC017389 NM_005361 BQ431490 BC000340 AW673548 

    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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    MAGEA12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATACCTGGA
    MAGEA12 Expression
    About this image


    MAGEA12 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)
    MAGEA12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAGEA12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.169246

    UniProtKB/Swiss-Prot: MAGAC_HUMAN, P43365
    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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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGEA12

    (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 MAGEA12 (if available)
    TreeFam Gene Tree for MAGEA12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAGEA12 gene
    MAGEC22  MAGEA9B2  MAGEB52  MAGEB162  MAGEB12  MAGEB42  MAGEC12  MAGED42  
    MAGEA82  MAGED22  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 MAGEA12 using alignment to 2 protein entries:     MAGAC_HUMAN (see all proteins) (see all similar genes):
    MAGEA2B    MAGEA6    MAGEA2    MAGEA3    MAGEA5    MAGEA4
    MAGEA1    MAGEA8    MAGEA11    MAGEA9    MAGEA9B    MAGEA13P
    MAGEB16    MAGEH1    MAGEA10    MAGEC3    MAGEB5    MAGED1

    Find genes that share paralogs with MAGEA12           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MAGEA12
    PGOHUM00000241296


    (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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    1 SNPs for MAGEA12    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs169965121,2,4
    ----see VAR_0534982 mis40--------

    HapMap Linkage Disequilibrium report for MAGEA12 (151899293 - 151903184 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MAGEA12:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2493e1CNV Complex17122850

    Locus Specific Mutation Databases (LSDB): MAGEA12

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAGEA12
    DNA2.0 Custom Variant and Variant Library Synthesis for MAGEA12

    (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: 300177    OMIM disorders: --

    1 disease for MAGEA12:    
    About MalaCards
    oral squamous cell carcinoma


    Find genes that share disorders with MAGEA12           About GenesLikeMe


    Export disorders for MAGEA12 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 MAGEA12 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with MAGEA12)
        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. 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)
    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. Cloning and analysis of MAGE-1-related genes. (PubMed id 8037761)1, 2 Ding M.... Fenton R.G. (Biochem. Biophys. Res. Commun. 1994)
    5. Sequence and expression pattern of the human MAGE2 gene. (PubMed id 8276455)1, 2 De Smet C....Boon T. (Immunogenetics 1994)
    6. 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)
    7. 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)
    8. 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)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 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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     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: 4111 HGNC: 6799 AceView: MAGEA2andMAGEA3andMAGEA12 Ensembl:ENSG00000213401 euGenes: HUgn4111
    ECgene: MAGEA12 H-InvDB: MAGEA12

    (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 MAGEA12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAGEA12 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 MAGEA12 gene:
    Search GeneIP for patents involving MAGEA12

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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, 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
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