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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAGEA12 Gene

protein-coding   GIFtS: 50
GCID: GC0XM151899

melanoma antigen family A, 12


(Previous symbol: MAGE12)
 Explore 8 diseases affiliated with
MAGEA12 via our new
 Human Malady Compendium 
Biological research products
for MAGEA12
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Melanoma Antigen Family A, 121 2     MAGE-12 Antigen2 3
MAGE121 2 3 5     MAGE12F Antigen2 3
CT1.121 2 3     Cancer/Testis Antigen Family 1, Member 122
Cancer/Testis Antigen 1.122 3     Melanoma-Associated Antigen 122

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MAGEA12:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MAGEA12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P43365

  • MAGEA12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000350592   ENSP00000377447   ENSP00000377478  

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    Uscn Proteins for MAGEA12

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    MAGEA12 for ontologies           About GeneDecksing



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

    MAGEA12 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR021072 Melanoma_ass_antigen_N
     IPR002190 MAGE

    Graphical View of Domain Structure for InterPro Entry P43365

    ProtoNet protein and cluster: P43365

    1 Blocks protein family: IPB002190 MAGE protein

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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

    miRNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    MAGEA12 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for MAGEA12:
     Decreased circadian period len 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    About this table

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


    MAGEA12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MAGEA12
    Search CenterWatch for drugs/clinical trials and news about MAGEA12 / MAGAC 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MAGEA12 gene (3 alternative transcripts): 
    NM_001166386.1  NM_001166387.1  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)


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    Inhib. RNA
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    Additional cDNA 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 

    24/183 AceView cDNA sequences (see all 183):

    BE279401 CD557117 BC063681 AW673548 BG575302 BM762699 BX106621 BC003408 
    BU622519 NM_175743 BI090658 AI222439 CA429655 BE901056 BQ226610 CA441190 
    BE795782 BM760598 BC000340 BF791772 CR541774 BM999965 BM781931 AA905896 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAGEA12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATACCTGGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MAGEA12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAGEA12

    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:
     

     
    Search Advanced Cell Diagnostics for 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MAGEA12 gene from 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    33(a)
    1 → many
    1(205669616-205678308)
    zebrafish
    (Danio rerio)
    Actinopterygii ndnl26
    necdin-like 2
    25(a)
    1 → many
    23(13012414-13025121)
    fruit fly
    (Drosophila melanogaster)
    Insecta MAGE6
    MAGE
    19(a)
    1 → many
    3R(2979960-2980898)


    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)
    About This Section
    Paralogs for MAGEA12 gene
    MAGEC22  MAGEA9B2  MAGEB52  MAGEB162  MAGEB42  MAGEB12  MAGEC12  MAGED42  
    MAGEA82  MAGED22  MAGEA92  MAGEB172  MAGEB102  MAGEA62  MAGEE12  MAGED12  
    MAGEA22  MAGEC32  MAGEA32  NDN2  MAGEB22  MAGEB32  MAGED4B2  MAGEE22  
    MAGEA42  MAGEA12  MAGEA102  MAGEB182  MAGEA2B2  MAGEB62  MAGEL22  TRO2  
    MAGEA112  NDNL22  MAGEF12  
    18/37 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

    MAGEA12 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MAGEA12
    PGOHUM00000241296


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/141 NCBI SNPs in MAGEA12 are shown (see all 141    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs626104531,2
    C,--151898796(+) ATGATG/AGATTT 4 -- ds5001 int11Minor allele frequency- A:0.00NA 2
    rs626131741,2
    C,--151898798(+) GATAGG/ATTTTC 4 -- ds5001 int11Minor allele frequency- A:0.00NA 2
    rs626131751,2
    C,--151898800(+) TAGATG/TTTCAT 4 -- ds5001 int11Minor allele frequency- T:0.00NA 2
    rs626131761,2
    C,--151898802(+) GATTTC/TCATCA 4 -- ds5001 int11Minor allele frequency- T:0.00NA 2
    rs1416493491,2
    --151898906(+) CCATCA/CGAAAT 4 -- int1 ds50010--------
    rs1445167961,2
    --151898938(+) CATTCC/TAGGCT 4 -- ds5001 int10--------
    rs24717721,2
    C,F,O,A,H,--151899075(+) AACTCT/CCTCCT 4 -- ds5001 int19Minor allele frequency- C:0.38NS NA WA 260
    rs1816171421,2
    --151899205(+) TGCTTA/GCCTTA 4 -- int1 ds50010--------
    rs24717731,2
    C,F,O,A,H,--151899355(+) ATCCAT/CGCTTT 4 -- int1 ut3126Minor allele frequency- C:0.50NS EA NA WA 2554
    rs1868536821,2
    --151899357(+) CCATGA/CTTTTT 4 -- int1 ut310--------

    HapMap Linkage Disequilibrium report for MAGEA12 (151899293 - 151903184 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MAGEA12
         1 CNV: 3273
    Locus Specific Mutation Databases (LSDB): MAGEA12

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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.)
    About This Section

    MAGEA12 for disorders           About GeneDecksing

    OMIM gene information: 300177    OMIM disorders: --

    8 diseases for MAGEA12:    About MalaCards
    dyskeratosis congenita    dyskeratosis    melanoma    oral squamous cell carcinoma
    squamous cell carcinoma    lung carcinoma    carcinoma    breast carcinoma


    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)
    About This Section

    PubMed articles for MAGEA12 gene, integrated from 9 sources (see all 16):
    (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. (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. (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. (1995)
    4. Cloning and analysis of MAGE-1-related genes. (PubMed id 8037761)1, 2 Ding M.... Fenton R.G. (1994)
    5. Sequence and expression pattern of the human MAGE2 gene. (PubMed id 8276455)1, 2 De Smet C....Boon T. (1994)
    6. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Expression of MAGE-A12 in oral squamous cell carcinoma. (PubMed id 18057533)1 Mollaoglu N....Ries J. (2008)
    9. Expression of melanoma-associated antigens in oral squamous cell carcinoma. (PubMed id 18197853)1 Ries J....Nkenke E. (2008)
    10. MAGE-A, mMage-b, and MAGE-C proteins form complexes with KAP1 and suppress p53-dependent apoptosis in MAGE-positive cell lines. (PubMed id 17942928)2 Yang B.... Longley B.J. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4111 HGNC: 6799 AceView: MAGEA2andMAGEA3andMAGEA12 Ensembl:ENSG00000213401 euGenes: HUgn4111
    ECgene: MAGEA12 H-InvDB: MAGEA12

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    Patent Information for MAGEA12 gene:
    Search GeneIP for patents involving MAGEA12

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



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    In Situ Hybridization Assays from
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