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

Gene ID: 728239, updated on 2-Nov-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, Nov 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: 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. 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.
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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

  • 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 biological_process ND
No biological Data available
more info
  
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 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 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

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