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

Gene ID: 4101, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152749863..152753884, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151016433..151020454, complement)
105.20220307 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: 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. Overexpression of melanoma-associated antigen A2 has a clinical significance in embryonal carcinoma and is associated with tumor progression. Saeednejad Zanjani L, et al. J Cancer Res Clin Oncol, 2022 Mar. PMID 34837545
  2. Reduced cytoplasmic expression of MAGE-A2 predicts tumor aggressiveness and survival: an immunohistochemical analysis. Khalvandi A, et al. World J Urol, 2021 Jun. PMID 32772147
  3. Melanoma-associated antigen A2 is overexpressed in glioma and associated with poor prognosis in glioma patients. Meng Q, et al. Neoplasma, 2018. PMID 30064232
  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. 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

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. MageA2 interferes with p53 acetylation at PML-nuclear bodies (NBs) and with PMLIV-dependent activation of p53.
    Title: MageA2 restrains cellular senescence by targeting the function of PMLIV/p53 axis at the PML-NBs.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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)

Genotypes

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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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_2023_10

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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