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MAGED4B MAGE family member D4B [ Homo sapiens (human) ]

Gene ID: 81557, updated on 23-Nov-2023

Summary

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Official Symbol
MAGED4Bprovided by HGNC
Official Full Name
MAGE family member D4Bprovided by HGNC
Primary source
HGNC:HGNC:22880
See related
Ensembl:ENSG00000187243 MIM:300765; AllianceGenome:HGNC:22880
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
Summary
This gene is a member of the MAGED gene family. It is expressed only in brain and ovary, and some transcript variants of this gene are specifically expressed in glioma cells. This gene is clustered with other MAGED genes on chromosome Xp11. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
Annotation information
Note: There are two highly similar MAGED4 loci on the X chromosome. In June, 2007, the name of this locus was changed from MAGED4 to MAGED4B to conform to the annotation of the underlying clone. [20 Jun 2007]
Expression
Broad expression in brain (RPKM 32.3), endometrium (RPKM 13.7) and 14 other tissues See more
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Genomic context

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Location:
Xp11.22
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (52061827..52069272, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (51333610..51341056, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (51804923..51812368, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene thiopurine S-methyltransferase pseudogene 3 Neighboring gene uncharacterized LOC105377208 Neighboring gene Putative uncharacterized protein FLJ39060 Neighboring gene small nucleolar RNA, H/ACA box 11E Neighboring gene uncharacterized LOC105377209 Neighboring gene small nucleolar RNA, H/ACA box 11D Neighboring gene MAGE family member D4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:52004803-52005304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:52005305-52005804

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. Evaluation of MAGE-D4 expression in hepatocellular carcinoma in Japanese patients. Takami H, et al. J Surg Oncol, 2013 Dec. PMID 24068544
  2. Over-expression of MAGED4B increases cell migration and growth in oral squamous cell carcinoma and is associated with poor disease outcome. Chong CE, et al. Cancer Lett, 2012 Aug 1. PMID 22459352
  3. MAGE-D4B is a novel marker of poor prognosis and potential therapeutic target involved in breast cancer tumorigenesis. Germano S, et al. Int J Cancer, 2012 May 1. PMID 21618523
  4. MAGED4B Promotes Glioma Progression via Inactivation of the TNF-α-induced Apoptotic Pathway by Down-regulating TRIM27 Expression. Liu C, et al. Neurosci Bull, 2023 Feb. PMID 35986882, Free PMC Article
  5. Expression of MAGE-D4, a novel MAGE family antigen, is correlated with tumor-cell proliferation of non-small cell lung cancer. Ito S, et al. Lung Cancer, 2006 Jan. PMID 16225959

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Overexpression of MAGE-D4 may be a predictive marker of early recurrence and mortality in patients with hepatocellular carcinoma (HCC).
    Title: Evaluation of MAGE-D4 expression in hepatocellular carcinoma in Japanese patients.
  2. Our data suggest that MAGED4B over-expression is a driver in oral carcinogenesis
    Title: Over-expression of MAGED4B increases cell migration and growth in oral squamous cell carcinoma and is associated with poor disease outcome.
  3. MAGE-D4B was found to correlate with tumor progression and to be an independent prognostic marker for poor outcome in term of relapse-free and overall survival, with potential predictive relevance in relation to response to chemotherapy
    Title: MAGE-D4B is a novel marker of poor prognosis and potential therapeutic target involved in breast cancer tumorigenesis.
  4. MAGE-D4 plays some roles in tumor cells proliferation in NSCLC, but MAGE-D4 expression status did not provided a prognostic significance.
    Title: Expression of MAGE-D4, a novel MAGE family antigen, is correlated with tumor-cell proliferation of non-small cell lung cancer.
  5. The MAGE-E1 gene is composed of 13 exons, and three of these (exon 2, exon 3 and exon 12) are alternatively spliced in each variant (E1a-c). MAGE-E1 gene is located in Xp11 through the analysis of radiation hybrid panels.
    Title: Structural characterization and chromosomal localization of the MAGE-E1 gene.
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)

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, KIAA1859, MGC88639

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, 4B
melanoma antigen family D4B

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_029896.1 RefSeqGene

    Range
    5090..12446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242362.2 → NP_001229291.1  melanoma-associated antigen D4 isoform 3

    See identical proteins and their annotated locations for NP_001229291.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains a slightly longer 5' UTR as a result of using an alternate acceptor splice site at the 2nd exon, and an additional in-frame coding exon compared to variant 1. This results in a longer isoform (3) containing an internal protein segment not found in isoform 1.
    Source sequence(s)
    AC239585, BC001207
    Consensus CDS
    CCDS56602.1
    UniProtKB/Swiss-Prot
    Q96JG8
    Related
    ENSP00000421861.1, ENST00000485287.5
    Conserved Domains (2) summary
    pfam01454
    Location:420 → 603
    MAGE; MAGE family
    pfam11321
    Location:250 → 304
    DUF3123; Protein of unknown function (DUF3123)

  2. NM_030801.5 → NP_110428.2  melanoma-associated antigen D4 isoform 1

    See identical proteins and their annotated locations for NP_110428.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AB058762, BC001207
    Consensus CDS
    CCDS14338.1
    UniProtKB/Swiss-Prot
    A8K093, Q5HYN6, Q8WXW4, Q96JG8, Q9BQ84, Q9BVH1, Q9BYH3, Q9BYH4, Q9H217
    Related
    ENSP00000335385.5, ENST00000335504.10
    Conserved Domains (2) summary
    pfam01454
    Location:420 → 587
    MAGE; MAGE family
    pfam11321
    Location:250 → 304
    DUF3123; Protein of unknown function (DUF3123)

  3. NM_177535.3 → NP_803879.1  melanoma-associated antigen D4 isoform 1

    See identical proteins and their annotated locations for NP_803879.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as MAGE-E1a) has a slightly shorter 5' UTR compared to variant 1, as a result of using an alternate acceptor splice site at the 2nd exon. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AB040527, AC239585, BC001207
    Consensus CDS
    CCDS14338.1
    UniProtKB/Swiss-Prot
    A8K093, Q5HYN6, Q8WXW4, Q96JG8, Q9BQ84, Q9BVH1, Q9BYH3, Q9BYH4, Q9H217
    Related
    ENSP00000423848.1, ENST00000497164.5
    Conserved Domains (2) summary
    pfam01454
    Location:420 → 587
    MAGE; MAGE family
    pfam11321
    Location:250 → 304
    DUF3123; Protein of unknown function (DUF3123)

  4. NM_177537.3 → NP_803881.1  melanoma-associated antigen D4 isoform 2

    See identical proteins and their annotated locations for NP_803881.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as MAGE-E1b) uses an alternate donor splice site at the penultimate exon compared to variant 1. This results in a frame-shift, early translation termination, and a shorter isoform (2) missing 2 aa from the C-terminus compared to isoform 1.
    Source sequence(s)
    AB040528, AC239585, BC001207
    Consensus CDS
    CCDS35281.1
    UniProtKB/Swiss-Prot
    Q96JG8
    Related
    ENSP00000353252.6, ENST00000360134.10
    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_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
    52061827..52069272 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    51333610..51341056 complement
    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

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