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    MAGEA2 MAGE family member A2 [ Homo sapiens (human) ]

    Gene ID: 4101, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MAGEA2provided by HGNC
    Official Full Name
    MAGE family member A2provided by HGNC
    Primary source
    HGNC:HGNC:6800
    See related
    Ensembl:ENSG00000268606 MIM:300173; AllianceGenome:HGNC:6800
    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
    CT1.2; MAGE2; MAGEA2A
    Summary
    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. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 2.8) See more
    Orthologs
    all
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    Genomic context

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    See MAGEA2 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152749863..152753884, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151016433..151020454, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151918387..151922408, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene chondrosarcoma associated gene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:151902449-151903648 Neighboring gene MAGE family member A12 Neighboring gene CSAG family member 4 (pseudogene) Neighboring gene CSAG family member 3 Neighboring gene MAGE family member A6

    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. Melanoma-associated antigen A2 is overexpressed in glioma and associated with poor prognosis in glioma patients. Meng Q, et al. Neoplasma, 2018. PMID 30064232
    2. Identification of MAGEA antigens as causal players in the development of tamoxifen-resistant breast cancer. Wong PP, et al. Oncogene, 2014 Sep 11. PMID 24662835, Free PMC Article
    3. The role of MAGEA2 in head and neck cancer. Glazer CA, et al. Arch Otolaryngol Head Neck Surg, 2011 Mar. PMID 21422315, Free PMC Article
    4. hMAGEA2 promotes progression of breast cancer by regulating Akt and Erk1/2 pathways. Park S, et al. Oncotarget, 2017 Jun 6. PMID 28415749, Free PMC Article
    5. Differential expression of MAGE-1, -2, and -3 messenger RNA in transformed and normal human cell lines. Zakut R, et al. Cancer Res, 1993 Jan 1. PMID 8416750

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. hMAGEA2 Accelerates the Progression of Prostate Cancer via the EFNA3-Erk1/2 Signaling Pathway.
      Title: hMAGEA2 Accelerates the Progression of Prostate Cancer via the EFNA3-Erk1/2 Signaling Pathway.
    2. Overexpression of melanoma-associated antigen A2 has a clinical significance in embryonal carcinoma and is associated with tumor progression.
      Title: Overexpression of melanoma-associated antigen A2 has a clinical significance in embryonal carcinoma and is associated with tumor progression.
    3. Reduced cytoplasmic expression of MAGE-A2 predicts tumor aggressiveness and survival: an immunohistochemical analysis.
      Title: Reduced cytoplasmic expression of MAGE-A2 predicts tumor aggressiveness and survival: an immunohistochemical analysis.
    4. high MAGEA2 expression is an independent prognostic factor for glioma patient poor overall survival
      Title: Melanoma-associated antigen A2 is overexpressed in glioma and associated with poor prognosis in glioma patients.
    5. Data indicate that melanoma-associated antigen A2 (MAGEA2)is significantly overexpressed in triple-negative breast cancer (TNBC) tissues and is important for progression of TNBC and may serve as a novel molecular therapeutic target.
      Title: hMAGEA2 promotes progression of breast cancer by regulating Akt and Erk1/2 pathways.
    6. suppression of MAGEA2 in lung cancer cells significantly reduced the growth/survival of cancer cells. High-MAGEA2 was identified as an independent prognostic factor in lung adenocarcinoma. Specific inhibition of MAGEA2 may be a promising therapeutic strategy for patients with lung cancer.
      Title: Overexpression of MAGEA2 has a prognostic significance and is a potential therapeutic target for patients with lung cancer.
    7. Immunohistochemistry using D2-40 monoclonal antibody (MAGE2) and anti-MITF1 increased detection of lymphovascular invasion in primary cutaneous melanoma.
      Title: Prognostic Implication of Lymphovascular Invasion Detected by Double Immunostaining for D2-40 and MITF1 in Primary Cutaneous Melanoma.
    8. We find that MAGE-A2 interacts with MDM2 via the N-terminal p53-binding pocket and the RING finger domain of MDM2 that is required for homo/hetero-dimerization and for E2 ligase interaction.
      Title: MAGE-A Cancer/Testis Antigens Inhibit MDM2 Ubiquitylation Function and Promote Increased Levels of MDM4.
    9. Consistent with increased cell death, the induced loss of MAGEA2 expression correlated with increased caspase 3/7 activity, BCL2/BAX ratio and TUNEL signal.
      Title: The adherens junction-associated protein 1 is a negative transcriptional regulator of MAGEA2, which potentiates temozolomide-induced apoptosis in GBM.
    10. MAGEA2 has a critical role in the development of tamoxifen-resistant breast cancer
      Title: Identification of MAGEA antigens as causal players in the development of tamoxifen-resistant breast cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    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

    Clone Names

    • MGC131923

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone deacetylase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone deacetylase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular senescence IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein acetylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein sumoylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of ubiquitin-protein transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction by p53 class mediator IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    melanoma-associated antigen 2
    Names
    MAGE-2 antigen
    cancer/testis antigen 1.2
    cancer/testis antigen family 1, member 2
    melanoma antigen 2
    melanoma antigen family A, 2
    melanoma antigen family A2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001282501.2 → NP_001269430.1  melanoma-associated antigen 2

      See identical proteins and their annotated locations for NP_001269430.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon in the 5' UTR region, compared to variant 3. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      AK290443, BC063681, CA429655
      Consensus CDS
      CCDS76049.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Related
      ENSP00000484290.1, ENST00000620710.4
      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_001282502.1 → NP_001269431.1  melanoma-associated antigen 2

      See identical proteins and their annotated locations for NP_001269431.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two internal exons in the 5' UTR region, compared to variant 3. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      AK290443, BC108720, CA429655
      Consensus CDS
      CCDS76049.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Related
      ENSP00000470872.1, ENST00000595583.5
      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_001282504.1 → NP_001269433.1  melanoma-associated antigen 2

      See identical proteins and their annotated locations for NP_001269433.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks three internal exons in the 5' UTR region, compared to variant 3. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      AK290443, BC108720, CA429655, DR158683
      Consensus CDS
      CCDS76049.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Related
      ENSP00000480491.1, ENST00000611674.4
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    4. NM_001282505.1 → NP_001269434.1  melanoma-associated antigen 2

      See identical proteins and their annotated locations for NP_001269434.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks four internal exons in the 5' UTR region, compared to variant 3. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      AK290443, AU100045, BC108720, CA429655
      Consensus CDS
      CCDS76049.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Related
      ENSP00000469919.1, ENST00000598543.5
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    5. NM_001386130.2 → NP_001373059.1  melanoma-associated antigen 2

      Status: REVIEWED

      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76049.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Related
      ENSP00000507899.1, ENST00000684311.1
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    6. NM_005361.3 → NP_005352.1  melanoma-associated antigen 2

      See identical proteins and their annotated locations for NP_005352.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 3. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76049.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Related
      ENSP00000480738.1, ENST00000611557.4
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    7. NM_175742.2 → NP_786884.1  melanoma-associated antigen 2

      See identical proteins and their annotated locations for NP_786884.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 5' region and lacks an alternate exon in a downstream region, compared to variant 3. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      AK290443, BC108720, BM781931, CA429655
      Consensus CDS
      CCDS76049.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Related
      ENSP00000485391.1, ENST00000623438.3
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    8. NM_175743.2 → NP_786885.1  melanoma-associated antigen 2

      See identical proteins and their annotated locations for NP_786885.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is the longest transcript. Variants 1 through 7 encode the same protein.
      Source sequence(s)
      AK290443, BC108720, BX282627, CA429655
      Consensus CDS
      CCDS76049.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Related
      ENSP00000485541.1, ENST00000623806.3
      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
      152749863..152753884 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791818.1 Reference GRCh38.p14 PATCHES

      Range
      329721..333742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      151016433..151020454 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43356.1 GenPept UniProtKB/Swiss-Prot:P43356

    Gene LinkOut

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

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