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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

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