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

MAGEA12 Gene

protein-coding   GIFtS: 52
GCID: GC0XM151899

Melanoma Antigen Family A, 12


(Previous symbol: MAGE12)
  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)
About This Section

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

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, and dyskeratosis congenita. GO annotations related to this gene include molecular_function. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for MAGEA12 at MOPED 

Post-translational modifications:

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

  • MAGEA12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAGEA12 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001159858.1  NP_001159859.1  NP_005358.2  

    ENSEMBL proteins: 
     ENSP00000350592   ENSP00000377447   ENSP00000377478  

    Human Recombinant Protein Products for MAGEA12: 
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    Novus Biologicals MAGEA12 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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



    MAGEA12 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    MAGEA12 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    MAGEA12 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MAGEA12 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MAGEA12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAGEA12 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAGEA12 

    miRNA
    Products:
        
    miRTarBase miRNAs that target MAGEA12:
    hsa-mir-34a (MIRT004109)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAGEA12
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate MAGEA12
    SwitchGear 3'UTR luciferase reporter plasmidMAGEA12 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAGEA12


    (Pathways according to EMD Millipore, 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 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 Oct 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, Ligands according to IUPHAR, 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 (MAGAC)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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)

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMAGEA12 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAGEA12
      QIAGEN 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 

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

    CA441190 CR594285 CA488474 BF219695 CD557117 CR541774 BM762699 BX505148 
    BM760598 BC011744 BM479202 BE279401 BQ436888 CA415709 NM_005362 BX106621 
    BC005963 NM_153488 CB145878 NM_175742 BG575302 BC063681 BI090658 AW628104 

    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)      MAGEA12 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)
             ES03(HES-3)
     
     Testis (Reproductive System)

     -- (Integumentary System)
             skin   

    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

        SABiosciences Custom PCR Arrays for MAGEA12
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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)
    About This Section
      --

    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  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  
    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, 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) 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

    1 SNPs in MAGEA12 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0534984
    ----see VAR_0534982 E D 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300177    OMIM disorders: --

    4 diseases for MAGEA12:    About MalaCards
    oral squamous cell carcinoma    dyskeratosis congenita    melanoma    squamous cell carcinoma


    MAGEA12 for disorders           About GeneDecksing


    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 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. (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. 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. (2012)
    7. Identification of novel MAGE-A6- and MAGE-A12-derived HLA-A24-restricted cytotoxic T lymphocyte epitopes using an in silico peptide-do cking assay. (PubMed id 22707303)1 Akiyama Y....Yamaguchi K. (2012)
    8. 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)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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