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    MAGED4 MAGE family member D4 [ Homo sapiens (human) ]

    Gene ID: 728239, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MAGED4provided by HGNC
    Official Full Name
    MAGE family member D4provided by HGNC
    Primary source
    HGNC:HGNC:23793
    See related
    Ensembl:ENSG00000154545 MIM:300702; AllianceGenome:HGNC:23793
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAGE1; MAGEE1; MAGE-D4; MAGE-E1
    Summary
    Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Annotation information
    Note: There are two highly similar MAGED4 loci on the X chromosome, MAGED4 and MAGED4B. [04 Jan 2013]
    Expression
    Broad expression in brain (RPKM 36.4), endometrium (RPKM 15.3) and 14 other tissues See more
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    Genomic context

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    See MAGED4 in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (52184888..52192268)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (51456587..51463967)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (51927984..51935364)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377208 Neighboring gene Putative uncharacterized protein FLJ39060 Neighboring gene small nucleolar RNA, H/ACA box 11E Neighboring gene MAGE family member D4B Neighboring gene uncharacterized LOC105377209 Neighboring gene small nucleolar RNA, H/ACA box 11D Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:52004803-52005304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:52005305-52005804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:52028188-52028851 Neighboring gene family with sequence similarity 156 member A pseudogene

    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. Overexpression of melanoma-associated antigen D4 is an independent prognostic factor in squamous cell carcinoma of the esophagus. Oya H, et al. Dis Esophagus, 2015 Feb-Mar. PMID 24147998
    2. Expression, Function, and Prognostic Value of MAGE-D4 Protein in Esophageal Squamous Cell Carcinoma. Uno Y, et al. Anticancer Res, 2019 Nov. PMID 31704827
    3. [Preparation and application of melanoma-associated antigen D4 polyclonal antibody]. He S, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2017 Jan. PMID 28031124
    4. MAGED4 expression in glioma and upregulation in glioma cell lines with 5-aza-2'-deoxycytidine treatment. Zhang QM, et al. Asian Pac J Cancer Prev, 2014. PMID 24870746
    5. Detection of serum melanoma-associated antigen D4 in patients with squamous cell carcinoma of the esophagus. Oya H, et al. Dis Esophagus, 2016 Aug. PMID 25951896

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High MAGED4 expression is associated with Esophageal Squamous Cell Carcinoma.
      Title: Expression, Function, and Prognostic Value of MAGE-D4 Protein in Esophageal Squamous Cell Carcinoma.
    2. The MAGE-D4 polyclonal antibody with high specificity and sensitivity has been successfully prepared.
      Title: [Preparation and application of melanoma-associated antigen D4 polyclonal antibody].
    3. Preoperative serum MAGED4 was significantly higher in esophageal squamous cell carcinoma patients than in controls.
      Title: Detection of serum melanoma-associated antigen D4 in patients with squamous cell carcinoma of the esophagus.
    4. Results suggest that MAGE-D4 overexpression influences tumor progression, and MADE-D4 can be a prognostic marker and a potential molecular target in squamous cell esophageal cancer.
      Title: Overexpression of melanoma-associated antigen D4 is an independent prognostic factor in squamous cell carcinoma of the esophagus.
    5. These findings suggest MAGE-D4 may serve as a potentially prognostic biomarker and an attractive target of immunotherapy in colorectal cancer
      Title: Overexpression of MAGE-D4 in colorectal cancer is a potentially prognostic biomarker and immunotherapy target.
    6. MAGE-D4 is highly expressed in glioma and can develop specifically humoral response in glioma patients.
      Title: High expression and frequently humoral immune response of melanoma-associated antigen D4 in glioma.
    7. MAGED4 (mRNA and protein) is frequently and highly expressed in glioma and is partly regulated by DNA methylation.
      Title: MAGED4 expression in glioma and upregulation in glioma cell lines with 5-aza-2'-deoxycytidine treatment.
    Submit: New GeneRIF Correction

    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

    • MGC3210, FLJ39060, FLJ76324, KIAA1859, MGC74882

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 D4
    Names
    MAGE-D4 antigen
    MAGE-E1 antigen
    melanoma antigen family D, 4
    melanoma antigen family D4

    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_001098800.3 → NP_001092270.1  melanoma-associated antigen D4 isoform 2

      See identical proteins and their annotated locations for NP_001092270.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks an alternate exon, and uses an alternate splice site in the 3' coding region, compared to variant 4. This results in a frameshift and an early stop codon. The encoded protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 3. This transcript structure is inferred from aligning transcripts.
      Source sequence(s)
      AC245177, AK289458, BC063838
      Consensus CDS
      CCDS48116.1
      UniProtKB/Swiss-Prot
      Q96JG8
      Related
      ENSP00000364777.3, ENST00000375626.7
      Conserved Domains (2) summary
      pfam01454
      Location:420 → 587
      MAGE; MAGE family
      pfam11321
      Location:250 → 304
      DUF3123; Protein of unknown function (DUF3123)

    2. NM_001272061.2 → NP_001258990.1  melanoma-associated antigen D4 isoform 3

      See identical proteins and their annotated locations for NP_001258990.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (3). This transcript structure is inferred from aligning transcripts.
      Source sequence(s)
      AC245177, AK289458, BC063838
      Consensus CDS
      CCDS65261.1
      UniProtKB/Swiss-Prot
      Q96JG8
      Related
      ENSP00000472118.2, ENST00000599522.7
      Conserved Domains (2) summary
      pfam01454
      Location:420 → 603
      MAGE; MAGE family
      pfam11321
      Location:250 → 304
      DUF3123; Protein of unknown function (DUF3123)

    3. NM_001272062.2 → NP_001258991.1  melanoma-associated antigen D4 isoform 1

      See identical proteins and their annotated locations for NP_001258991.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate exon in the coding region, compared to variant 4. It encodes isoform 1, which is shorter than isoform 3. Variants 1 and 2 encode the same isoform (1). This transcript structure is inferred from aligning transcripts.
      Source sequence(s)
      AK289458, BC063838
      Consensus CDS
      CCDS94608.1
      UniProtKB/Swiss-Prot
      A8K093, Q5HYN6, Q8WXW4, Q96JG8, Q9BQ84, Q9BVH1, Q9BYH3, Q9BYH4, Q9H217
      Related
      ENST00000498483.5
      Conserved Domains (2) summary
      pfam01454
      Location:420 → 587
      MAGE; MAGE family
      pfam11321
      Location:250 → 304
      DUF3123; Protein of unknown function (DUF3123)

    4. NM_001272063.2 → NP_001258992.1  melanoma-associated antigen D4 isoform 1

      See identical proteins and their annotated locations for NP_001258992.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and lacks an alternate exon in the coding region, compared to variant 4. It encodes isoform 1, which is shorter than isoform 3. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK289458, BC063838
      Consensus CDS
      CCDS94608.1
      UniProtKB/Swiss-Prot
      A8K093, Q5HYN6, Q8WXW4, Q96JG8, Q9BQ84, Q9BVH1, Q9BYH3, Q9BYH4, Q9H217
      Related
      ENSP00000507908.1, ENST00000471932.6
      Conserved Domains (2) summary
      pfam01454
      Location:420 → 587
      MAGE; MAGE family
      pfam11321
      Location:250 → 304
      DUF3123; Protein of unknown function (DUF3123)

    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
      52184888..52192268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      51456587..51463967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JG8.3 GenPept UniProtKB/Swiss-Prot:Q96JG8

    Gene LinkOut

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

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