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MAGEC2 Gene

protein-coding   GIFtS: 50
GCID: GC0XM141291

Melanoma Antigen Family C, 2

(Previous names: melanoma antigen, family E, 1, cancer/testis specific)
(Previous symbol: MAGEE1)
  See MAGEC2-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 C, 21 2     Hepatocellular Carcinoma-Associated Antigen 5872 3
MAGEE11 2 3 5     MAGE-C2 Antigen2 3
Cancer/Testis Antigen 101 2 3     MAGE-E1 Antigen2 3
CT102 3 5     Hepatocellular Cancer Antigen 5872
HCA5872 3 5     Melanoma-Associated Antigen C22
Melanoma Antigen, Family E, 1, Cancer/Testis Specific1 2     

External Ids:    HGNC: 135741   Entrez Gene: 514382   Ensembl: ENSG000000467747   OMIM: 3004685   UniProtKB: Q9UBF13   

Export aliases for MAGEC2 gene to outside databases

Previous GC identifers: GC0XM139983 GC0XM141015 GC0XM141117


(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 MAGEC2 Gene:
This gene is a member of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is
expressed in tumors of various histological types. This gene and the other MAGEC genes are clustered on
chromosome Xq26-q27. (provided by RefSeq, Oct 2009)

GeneCards Summary for MAGEC2 Gene:
MAGEC2 (melanoma antigen family C, 2) is a protein-coding gene. Diseases associated with MAGEC2 include brain cancer, and hepatocellular carcinoma. GO annotations related to this gene include ubiquitin protein ligase binding. An important paralog of this gene is MAGEA9B.

UniProtKB/Swiss-Prot: MAGC2_HUMAN, Q9UBF1
Function: Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein
ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination in presence
of Ubl-conjugating enzyme UBE2H leading to p53/TP53 degradation. Proposed to act through recruitment and/or
stabilization of the Ubl-conjugating enzymes (E2) at the E3:substrate complex

Gene Wiki entry for MAGEC2 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 at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAGEC2 gene promoter:
         NCX/Ncx   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAGEC2 promoter sequence
   Search Chromatin IP Primers for MAGEC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEC2


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

Entrez Gene cytogenetic band: Xq27   Ensembl cytogenetic band:  Xq27.2   HGNC cytogenetic band: Xq27

MAGEC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEC2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM141291:  view genomic region     (about GC identifiers)

Start:
141,290,128 bp from pter      End:
141,293,076 bp from pter
Size:
2,949 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MAGC2_HUMAN, Q9UBF1 (See protein sequence)
Recommended Name: Melanoma-associated antigen C2  
Size: 373 amino acids; 41163 Da
Subunit: Interacts with TRIM28 and UBE2H
Developmental stage: Strongly expressed in spermatogonia and primary spermatocytes. At later stages of maturation,
expression gradually decreases and becomes undetectable in mature spermatids
Secondary accessions: Q5JZ00 Q96D45 Q9P1M6 Q9P1M7

Explore the universe of human proteins at neXtProt for MAGEC2: NX_Q9UBF1

Explore proteomics data for MAGEC2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MAGEC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057333.1  
    ENSEMBL proteins: 
     ENSP00000354660  

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    antibodies-online proteins for MAGEC2 (3 products) 

     
    antibodies-online peptides for MAGEC2

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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 Q9UBF1

    ProtoNet protein and cluster: Q9UBF1

    1 Blocks protein domain: IPB002190 MAGE protein

    UniProtKB/Swiss-Prot: MAGC2_HUMAN, Q9UBF1
    Similarity: Contains 1 MAGE domain


    Find genes that share domains with MAGEC2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: MAGC2_HUMAN, Q9UBF1
    Function: Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein
    ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination in presence
    of Ubl-conjugating enzyme UBE2H leading to p53/TP53 degradation. Proposed to act through recruitment and/or
    stabilization of the Ubl-conjugating enzymes (E2) at the E3:substrate complex

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0031625ubiquitin protein ligase binding IDA--
         
    Find genes that share ontologies with MAGEC2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MAGEC2

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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 UniProtKB/Swiss-Prot
    MAGC2_HUMAN, Q9UBF1: Cytoplasm. Nucleus. Note=Nuclear in germ cells. Cytoplasmic in well-differentiated
    hepatocellular carcinoma, nuclear in moderately- and poorly-differentiated hepatocellular carcinoma
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12920247
    GO:0005737cytoplasm IDA12920247

    Find genes that share ontologies with MAGEC2           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 MAGEC2
    Interactions:

        GeneGlobe Interaction Network for MAGEC2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for MAGEC2 (Q9UBF11, 3 ENSP000003546604) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2HP622561, ENSP000003478364EBI-5651487,EBI-2129909 STRING: ENSP00000347836
    TP53P046371, ENSP000002693054EBI-5651487,EBI-366083 STRING: ENSP00000269305
    TRIM28Q132631, ENSP000002530244EBI-5651487,EBI-78139 STRING: ENSP00000253024
    TNFAIP8O953793I2D: score=1 
    UBA1ENSP000003384134STRING: ENSP00000338413
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0044257cellular protein catabolic process IMP--
    GO:0051443positive regulation of ubiquitin-protein ligase activity IMP--

    Find genes that share ontologies with MAGEC2           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
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    Browse Tocris compounds for MAGEC2 (MAGC2)



    (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 MAGEC2 gene: 
    NM_016249.3  

    Unigene Cluster for MAGEC2:

    Melanoma antigen family C, 2
    Hs.123536  [show with all ESTs]
    Unigene Representative Sequence: BC013318
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000247452(uc004fbu.2)
    miRNA
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    Additional mRNA sequence: 

    AF116194.1 AF151378.1 AF196482.1 AK313591.1 BC005891.2 BC013318.1 CR457168.1 

    1 DOTS entry:

    DT.405691 

    Selected AceView cDNA sequences (see all 77):

    BE385327 BC005891 BE302201 BE729944 BE384089 BQ772609 BU188257 AA813168 
    BM548987 BQ773540 BQ425743 BI459929 BM453716 BG477531 BE276085 BE276397 
    BE300719 CA427367 AF151378 BE729347 AA863371 BE385846 BG281948 BE018613 

    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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    MAGEC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTGCTCTT
    MAGEC2 Expression
    About this image

    MAGEC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAGEC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.123536

    UniProtKB/Swiss-Prot: MAGC2_HUMAN, Q9UBF1
    Tissue specificity: Not expressed in normal tissues, except in germ cells in the seminiferous tubules and in
    Purkinje cells of the cerebellum. Expressed in various tumors, including melanoma, lymphoma, as well as
    pancreatic cancer, mammary gland cancer, non-small cell lung cancer and liver cancer. In hepatocellular
    carcinoma, there is a inverse correlation between tumor differentiation and protein expression, i.e. the lower
    the differentiation, the higher percentage of expression

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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 MAGEC2 (if available)
    TreeFam Gene Tree for MAGEC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAGEC2 gene
    MAGEA9B2  MAGEB52  MAGEB162  MAGEB12  MAGEB42  MAGEC12  MAGED42  MAGEA82  
    MAGED22  MAGEA122  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 MAGEC2 using alignment to 1 protein entry:     MAGC2_HUMAN(see all similar genes):
    MAGEC4    MAGEC1    MAGE-B1    MAGEB1    MAGEH1    MAGEA11
    MAGEB16    MAGEB17    MAGEC3    MAGEB4    MAGEB5    MAGEB2
    MAGEB3    MAGEE1    MAGEA10    MAGEA13P    MAGEB10    MAGEB18

    Find genes that share paralogs with MAGEC2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MAGEC2
    PGOHUM00000241579


    (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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    Selected SNPs for MAGEC2 (see all 101)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365834
    A breast cancer sample4--see VAR_0365832 G C mis40--------
    rs22811501,2
    C,F,A,H--141244378(+) AGAGAA/GGCAAC 1 -- ds500111Minor allele frequency- G:0.26NS EA NA WA 1146
    rs1860168961,2
    --141244417(+) TATCTC/GAAGAC 1 -- ds50010--------
    rs1487582051,2
    --141244899(+) CATTTC/TTTTAA 1 -- ut310--------
    rs1424300221,2
    C--141244942(+) AAAGAA/GCAATA 1 -- ut310--------
    rs1888180471,2
    --141244991(+) TAACTA/GCCTGC 1 -- ut310--------
    rs1479523591,2
    C--141245153(+) GGAAGA/TAACTA 1 -- ut310--------
    rs2013264461,2
    --141245185(+) GGAGAC/TGTTGC 2 I V mis10--------
    rs1116400121,2
    C,F--141245231(+) GTGGCA/GTCATC 2 D syn12Minor allele frequency- G:0.00CSA NA 4551
    rs1409472711,2
    C,F--141245240(+) TCTGCG/AGTATC 2 /T syn11Minor allele frequency- A:0.00NA 4550

    HapMap Linkage Disequilibrium report for MAGEC2 (141290128 - 141293076 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MAGEC2: --
    Locus Specific Mutation Databases (LSDB): MAGEC2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAGEC2
    DNA2.0 Custom Variant and Variant Library Synthesis for MAGEC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300468    OMIM disorders: --

    2 diseases for MAGEC2:    
    About MalaCards
    brain cancer    hepatocellular carcinoma


    Find genes that share disorders with MAGEC2           About GenesLikeMe

    5 Novoseek inferred disease relationships for MAGEC2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 50.3 2 14999777 (1), 10699956 (1)
    hepatocellular carcinoma 47.6 2 12920247 (1), 15237429 (1)
    cirrhosis 34 2 12921655 (1), 15237429 (1)
    tumors 32 6 12920247 (2), 14999777 (2), 15061963 (1)
    cancer 25.6 2 12920247 (1), 10699956 (1)

    Genetic Association Database (GAD): MAGEC2
    Human Genome Epidemiology (HuGE) Navigator: MAGEC2 (1 document)

    Export disorders for MAGEC2 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 MAGEC2 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with MAGEC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CT10: a new cancer-testis (CT) antigen homologous to CT7 and the MAGE family, identified by representational difference analysis. (PubMed id 10699956)1, 2, 3, 9 Gure A.O.... Chen Y.-T. (Int. J. Cancer 2000)
    2. HCA587 antigen expression in normal tissues and cancers: correlation with tumor differentiation in hepatocellular carcinoma. (PubMed id 12920247)1, 2, 9 Li B....Chen W.-F. (Lab. Invest. 2003)
    3. Frequent MAGE mutations in human melanoma. (PubMed id 20862285)1, 4 Caballero O.L....Simpson A.J. (PLoS ONE 2010)
    4. MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. (PubMed id 20864041)1, 2 Doyle J.M.... Potts P.R. (Mol. Cell 2010)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    6. 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)
    7. Large scale identification of human hepatocellular carcinoma- associated antigens by autoantibodies. (PubMed id 12097419)1, 2 Wang Y....Chen W.-F. (J. Immunol. 2002)
    8. MAGE-B5, MAGE-B6, MAGE-C2, and MAGE-C3: four new members of the MAGE family with tumor-specific expression. (PubMed id 10861452)1, 2 Lucas S.... Boon T. (Int. J. Cancer 2000)
    9. Two new tumor-specific antigenic peptides encoded by gene MAGE-C2 and presented to cytolytic T lymphocytes by HLA-A2. (PubMed id 14999777)1, 9 Ma W....Van den Eynde B.J. (Int. J. Cancer 2004)
    10. [Expression of multiple cancer-testis antigen genes in non-small cell lung cancer treated by chemotherapy prior surgery]. (PubMed id 15061963)1, 9 Wang Y....Zhang L.J. (Zhonghua Yi Xue Za Zhi 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51438 HGNC: 13574 AceView: MAGEC2 Ensembl:ENSG00000046774 euGenes: HUgn51438
    ECgene: MAGEC2 H-InvDB: MAGEC2

    (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 MAGEC2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAGEC2 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 MAGEC2 gene:
    Search GeneIP for patents involving MAGEC2

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



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