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    MAGEA4 MAGE family member A4 [ Homo sapiens (human) ]

    Gene ID: 4103, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MAGEA4provided by HGNC
    Official Full Name
    MAGE family member A4provided by HGNC
    Primary source
    HGNC:HGNC:6802
    See related
    Ensembl:ENSG00000147381 MIM:300175; AllianceGenome:HGNC:6802
    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
    CT1.4; MAGE4; MAGE4A; MAGE4B; MAGE-41; MAGE-X2
    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. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
    Expression
    Restricted expression toward testis (RPKM 13.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See MAGEA4 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (151912474..151925170)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (150180747..150191399)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151080946..151093642)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cyclic nucleotide gated channel subunit alpha 2 Neighboring gene NANOG hESC enhancer GRCh37_chrX:150993617-150994163 Neighboring gene MAGEA4 antisense RNA 1 Neighboring gene gamma-aminobutyric acid type A receptor subunit epsilon Neighboring gene microRNA 224 Neighboring gene microRNA 452

    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. MAGEA4 expression in bone and soft tissue tumors: its utility as a target for immunotherapy and diagnostic marker combined with NY-ESO-1. Iura K, et al. Virchows Arch, 2017 Sep. PMID 28744588
    2. Proteomic profiling of triple-negative breast carcinomas in combination with a three-tier orthogonal technology approach identifies Mage-A4 as potential therapeutic target in estrogen receptor negative breast cancer. Cabezón T, et al. Mol Cell Proteomics, 2013 Feb. PMID 23172894, Free PMC Article
    3. Potential role of 5-aza-2'-deoxycytidine induced MAGE-A4 expression in immunotherapy for anaplastic thyroid cancer. Gunda V, et al. Surgery, 2013 Dec. PMID 24238058, Free PMC Article
    4. Clinical significance of human leukocyte antigen loss and melanoma-associated antigen 4 expression in smokers of non-small cell lung cancer patients. Baba T, et al. Int J Clin Oncol, 2013 Dec. PMID 23124547
    5. MAGEA4 induces growth in normal oral keratinocytes by inhibiting growth arrest and apoptosis. Bhan S, et al. Oncol Rep, 2012 Oct. PMID 22842486

    See all (81) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Involvement of NY-ESO-1 and MAGE-A4 in the pathogenesis of desmoid tumors.
      Title: Involvement of NY-ESO-1 and MAGE-A4 in the pathogenesis of desmoid tumors.
    2. Clinicopathological assessment of cancer/testis antigens NYESO1 and MAGEA4 in osteosarcoma.
      Title: Clinicopathological assessment of cancer/testis antigens NY‑ESO‑1 and MAGE‑A4 in osteosarcoma.
    3. MAGE-A4, NY-ESO-1 and SAGE mRNA expression rates and co-expression relationships in solid tumours.
      Title: MAGE-A4, NY-ESO-1 and SAGE mRNA expression rates and co-expression relationships in solid tumours.
    4. T cell receptor interactions with human leukocyte antigen govern indirect peptide selectivity for the cancer testis antigen MAGE-A4.
      Title: T cell receptor interactions with human leukocyte antigen govern indirect peptide selectivity for the cancer testis antigen MAGE-A4.
    5. Because of the significant correlation of MAGEA4 and indices of poor prognosis, the role of this CTA may be confirmed in Esophageal squamous cell carcinoma (ESCC) aggressiveness and metastasis. Therefore, MAGEA4 may be a promising therapeutic candidate for suppressing ESCC aggressiveness
      Title: Investigation of melanoma-associated antigen A4 cancer/testis antigen clinical relevance in esophageal squamous cell carcinoma.
    6. Study shows that whereas MAGEA4 expression by itself may be indicative of a poor prognosis in primary lung cancer, its prognostic value depends entirely on its subcellular localization and on the p53 status. The accumulation of nuclear MAGEA4 expression without p53 expression is significantly associated with poor survival, implying that MAGEA4 inhibits apoptosis and increases tumorigenesis.
      Title: Prognostic value of MAGEA4 in primary lung cancer depends on subcellular localization and p53 status.
    7. MAGE-A4 depletion from MAGE-A4-expressing cancer cells destabilizes RAD18.
      Title: A neomorphic cancer cell-specific role of MAGE-A4 in trans-lesion synthesis.
    8. Our results support...the potential utility of MAGEA4 as an ancillary diagnostic marker for synovial sarcoma
      Title: MAGEA4 expression in bone and soft tissue tumors: its utility as a target for immunotherapy and diagnostic marker combined with NY-ESO-1.
    9. some autoantibodies, such as anti-MAGEA4, anti-CTAG1 or anti-TP53 and their combinations could possibly contribute to the development of cancer early detection tests (not necessarily restricted to gastric cancer) when being combined with other markers.
      Title: Evaluation of the diagnostic value of 64 simultaneously measured autoantibodies for early detection of gastric cancer.
    10. Anti-MAGEA4 exhibited the highest sensitivity for detecting early stage colorectal cancer (CRC) and advanced adenoma.
      Title: Prospective evaluation of 64 serum autoantibodies as biomarkers for early detection of colorectal cancer in a true screening setting.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    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

    Clone Names

    • MGC21336

    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 apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 4
    Names
    MAGE-4 antigen
    MAGE-41 antigen
    MAGE-X2 antigen
    cancer/testis antigen 1.4
    cancer/testis antigen family 1, member 4
    melanoma antigen family A, 4
    melanoma antigen family A4

    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_013245.1 RefSeqGene

      Range
      5001..17282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001011548.1 → NP_001011548.1  melanoma-associated antigen 4

      See identical proteins and their annotated locations for NP_001011548.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
      Source sequence(s)
      AF274855, BX479311
      Consensus CDS
      CCDS14702.1
      UniProtKB/Swiss-Prot
      P43358, Q14798
      UniProtKB/TrEMBL
      Q1RN33
      Related
      ENSP00000276344.2, ENST00000276344.6
      Conserved Domains (2) summary
      pfam01454
      Location:131 → 281
      MAGE; MAGE family
      pfam12440
      Location:5 → 95
      MAGE_N; Melanoma associated antigen family N terminal

    2. NM_001011549.1 → NP_001011549.1  melanoma-associated antigen 4

      See identical proteins and their annotated locations for NP_001011549.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
      Source sequence(s)
      AF274855, BM548926
      Consensus CDS
      CCDS14702.1
      UniProtKB/Swiss-Prot
      P43358, Q14798
      UniProtKB/TrEMBL
      Q1RN33
      Related
      ENSP00000377497.1, ENST00000393920.6
      Conserved Domains (2) summary
      pfam01454
      Location:131 → 281
      MAGE; MAGE family
      pfam12440
      Location:5 → 95
      MAGE_N; Melanoma associated antigen family N terminal

    3. NM_001011550.1 → NP_001011550.1  melanoma-associated antigen 4

      See identical proteins and their annotated locations for NP_001011550.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
      Source sequence(s)
      AF274855, CB120212
      Consensus CDS
      CCDS14702.1
      UniProtKB/Swiss-Prot
      P43358, Q14798
      UniProtKB/TrEMBL
      Q1RN33
      Related
      ENSP00000353379.2, ENST00000360243.6
      Conserved Domains (2) summary
      pfam01454
      Location:131 → 281
      MAGE; MAGE family
      pfam12440
      Location:5 → 95
      MAGE_N; Melanoma associated antigen family N terminal

    4. NM_001386196.1 → NP_001373125.1  melanoma-associated antigen 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has the 5'-most exon compared to variants 1-4 and 6-12. All twelve variants encode the same protein.
      Source sequence(s)
      AF274855
      Consensus CDS
      CCDS14702.1
      UniProtKB/Swiss-Prot
      P43358, Q14798
      UniProtKB/TrEMBL
      Q1RN33
      Conserved Domains (2) summary
      pfam01454
      Location:131 → 281
      MAGE; MAGE family
      pfam12440
      Location:5 → 95
      MAGE_N; Melanoma associated antigen family N terminal

    5. NM_001386197.1 → NP_001373126.1  melanoma-associated antigen 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
      Source sequence(s)
      AF274855
      Consensus CDS
      CCDS14702.1
      UniProtKB/Swiss-Prot
      P43358, Q14798
      UniProtKB/TrEMBL
      Q1RN33
      Conserved Domains (2) summary
      pfam01454
      Location:131 → 281
      MAGE; MAGE family
      pfam12440
      Location:5 → 95
      MAGE_N; Melanoma associated antigen family N terminal

    6. NM_001386198.1 → NP_001373127.1  melanoma-associated antigen 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
      Source sequence(s)
      AF274855
      Consensus CDS
      CCDS14702.1
      UniProtKB/Swiss-Prot
      P43358, Q14798
      UniProtKB/TrEMBL
      Q1RN33
      Related
      ENSP00000359365.3, ENST00000370340.7
      Conserved Domains (2) summary
      pfam01454
      Location:131 → 281
      MAGE; MAGE family
      pfam12440
      Location:5 → 95
      MAGE_N; Melanoma associated antigen family N terminal

    7. NM_001386199.1 → NP_001373128.1  melanoma-associated antigen 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
      Source sequence(s)
      AF274855
      Consensus CDS
      CCDS14702.1
      UniProtKB/Swiss-Prot
      P43358, Q14798
      UniProtKB/TrEMBL
      Q1RN33
      Conserved Domains (2) summary
      pfam01454
      Location:131 → 281
      MAGE; MAGE family
      pfam12440
      Location:5 → 95
      MAGE_N; Melanoma associated antigen family N terminal

    8. NM_001386200.1 → NP_001373129.1  melanoma-associated antigen 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
      Source sequence(s)
      AF274855
      Consensus CDS
      CCDS14702.1
      UniProtKB/Swiss-Prot
      P43358, Q14798
      UniProtKB/TrEMBL
      Q1RN33
      Conserved Domains (2) summary
      pfam01454
      Location:131 → 281
      MAGE; MAGE family
      pfam12440
      Location:5 → 95
      MAGE_N; Melanoma associated antigen family N terminal

    9. NM_001386202.1 → NP_001373131.1  melanoma-associated antigen 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
      Source sequence(s)
      AF274855
      Consensus CDS
      CCDS14702.1
      UniProtKB/Swiss-Prot
      P43358, Q14798
      UniProtKB/TrEMBL
      Q1RN33
      Related
      ENSP00000377498.1, ENST00000393921.6
      Conserved Domains (2) summary
      pfam01454
      Location:131 → 281
      MAGE; MAGE family
      pfam12440
      Location:5 → 95
      MAGE_N; Melanoma associated antigen family N terminal

    10. NM_001386203.1 → NP_001373132.1  melanoma-associated antigen 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
      Source sequence(s)
      AF274855
      Consensus CDS
      CCDS14702.1
      UniProtKB/Swiss-Prot
      P43358, Q14798
      UniProtKB/TrEMBL
      Q1RN33
      Conserved Domains (2) summary
      pfam01454
      Location:131 → 281
      MAGE; MAGE family
      pfam12440
      Location:5 → 95
      MAGE_N; Melanoma associated antigen family N terminal

    11. NM_002362.4 → NP_002353.3  melanoma-associated antigen 4

      See identical proteins and their annotated locations for NP_002353.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 5. All twelve variants encode the same protein.
      Source sequence(s)
      AF274855, BM562570
      Consensus CDS
      CCDS14702.1
      UniProtKB/Swiss-Prot
      P43358, Q14798
      UniProtKB/TrEMBL
      Q1RN33
      Related
      ENSP00000507023.1, ENST00000684668.1
      Conserved Domains (2) summary
      pfam01454
      Location:131 → 281
      MAGE; MAGE family
      pfam12440
      Location:5 → 95
      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
      151912474..151925170
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      150180747..150191399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327058.1 → XP_054183033.1  melanoma-associated antigen 4 isoform X1

      UniProtKB/Swiss-Prot
      P43358, Q14798
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43358.2 GenPept UniProtKB/Swiss-Prot:P43358

    Gene LinkOut

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

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