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

Gene ID: 4103, updated on 2-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
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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 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)

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

  • MGC21336

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone deacetylase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables molecular_function ND
No biological Data available
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 cellular_component ND
No biological Data available
more info
  
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

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