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    MAGEA12 MAGE family member A12 [ Homo sapiens (human) ]

    Gene ID: 4111, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MAGEA12provided by HGNC
    Official Full Name
    MAGE family member A12provided by HGNC
    Primary source
    HGNC:HGNC:6799
    See related
    Ensembl:ENSG00000213401 MIM:300177; AllianceGenome:HGNC:6799
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT1.12; MAGE12
    Summary
    This gene is closely related to several other genes clustered on chromosome X. These genes may be overexpressed in tumors. Multiple alternatively spliced variants encoding the same protein have been identified. [provided by RefSeq, Jun 2014]
    Expression
    Restricted expression toward testis (RPKM 1.8) See more
    Orthologs
    all
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    Genomic context

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    See MAGEA12 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152733757..152737669)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151000336..151004248)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151899293..151903206, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MAGE family member A2B Neighboring gene chondrosarcoma associated gene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:151902449-151903648 Neighboring gene CSAG family member 4 (pseudogene) Neighboring gene MAGE family member A2 Neighboring gene CSAG family member 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Resveratrol acts via melanoma-associated antigen A12 (MAGEA12)/protein kinase B (Akt) signaling to inhibit the proliferation of oral squamous cell carcinoma cells. Shang Y, et al. Bioengineered, 2021 Dec. PMID 34085601, Free PMC Article
    2. Expression of MAGE-A12 in oral squamous cell carcinoma. Mollaoglu N, et al. Dis Markers, 2008. PMID 18057533, Free PMC Article
    3. Promoter demethylation and histone acetylation mediate gene expression of MAGE-A1, -A2, -A3, and -A12 in human cancer cells. Wischnewski F, et al. Mol Cancer Res, 2006 May. PMID 16687489
    4. Characterization of T-cell receptors directed against HLA-A*01-restricted and C*07-restricted epitopes of MAGE-A3 and MAGE-A12. Zhu S, et al. J Immunother, 2012 Nov-Dec. PMID 23090077, Free PMC Article
    5. Preferential expression of cancer/testis genes in cancer stem-like cells: proposal of a novel sub-category, cancer/testis/stem gene. Yamada R, et al. Tissue Antigens, 2013 Jun. PMID 23574628

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Resveratrol acts via melanoma-associated antigen A12 (MAGEA12)/protein kinase B (Akt) signaling to inhibit the proliferation of oral squamous cell carcinoma cells.
      Title: Resveratrol acts via melanoma-associated antigen A12 (MAGEA12)/protein kinase B (Akt) signaling to inhibit the proliferation of oral squamous cell carcinoma cells.
    2. MAGEA12-mediated down-regulation of p21 may be involved in cutaneous squamous cell carcinoma pathogenesis and MAGEA12 may serve as a molecular biomarker in cSCC.
      Title: Overexpression and Implications of Melanoma-associated Antigen A12 in Pathogenesis of Human Cutaneous Squamous Cell Carcinoma.
    3. over-expression of MAGEA12 in a subset of gastric cancers was associated with later stage and reduced survival
      Title: Identification of MAGEA12 as a prognostic outlier gene in gastric cancers.
    4. Data show the Differences in high resolution melting analysis in promoters of tumor markers neuronal membrane glycoprotein M6-B, melanoma antigen family A12 and immunoglobulin superfamily Fc receptor indicated invasiveness of hepatocellular carcinoma.
      Title: Discovery and validation of DNA hypomethylation biomarkers for liver cancer using HRM-specific probes.
    5. To identify novel CTL epitopes from MAGE-A6 and MAGE-A12 antigens.
      Title: Identification of novel MAGE-A6- and MAGE-A12-derived HLA-A24-restricted cytotoxic T lymphocyte epitopes using an in silico peptide-docking assay.
    6. results of this study may indicate Melanoma associated-A12 antigen(MAGE-A12)as a diagnostic marker for early detection of oral squamous cell carcinoma
      Title: Expression of MAGE-A12 in oral squamous cell carcinoma.
    7. Multiple simultaneous detection of MAGE-A [subtypes] more specific and sensitive than detection of single MAGE-A antigen for the diagnostic and prognostic evaluation of oral squamous cell carcinoma
      Title: Expression of melanoma-associated antigens in oral squamous cell carcinoma.
    8. These data show, for the first time, the involvement of methyl-CpG binding domain proteins in the regulation of the MAGE-A genes.
      Title: Methyl-CpG binding domain proteins and their involvement in the regulation of the MAGE-A1, MAGE-A2, MAGE-A3, and MAGE-A12 gene promoters.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone deacetylase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    melanoma-associated antigen 12
    Names
    MAGE12F antigen
    cancer/testis antigen 1.12
    cancer/testis antigen family 1, member 12
    melanoma antigen family A, 12
    melanoma antigen family A12

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015852.2 RefSeqGene

      Range
      4940..8852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166386.3 → NP_001159858.1  melanoma-associated antigen 12

      See identical proteins and their annotated locations for NP_001159858.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 all encode the same protein.
      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76048.1
      UniProtKB/Swiss-Prot
      P43365, Q6FHH8, Q9NSD3
      Related
      ENSP00000377478.3, ENST00000393900.4
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    2. NM_001166387.4 → NP_001159859.1  melanoma-associated antigen 12

      See identical proteins and their annotated locations for NP_001159859.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 all encode the same protein.
      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76048.1
      UniProtKB/Swiss-Prot
      P43365, Q6FHH8, Q9NSD3
      Related
      ENSP00000377447.3, ENST00000393869.8
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    3. NM_005367.7 → NP_005358.2  melanoma-associated antigen 12

      See identical proteins and their annotated locations for NP_005358.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 all encode the same protein.
      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76048.1
      UniProtKB/Swiss-Prot
      P43365, Q6FHH8, Q9NSD3
      Related
      ENSP00000350592.4, ENST00000357916.8
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      152733757..152737669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791818.1 Reference GRCh38.p14 PATCHES

      Range
      345939..349852 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      151000336..151004248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43365.2 GenPept UniProtKB/Swiss-Prot:P43365

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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