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MAGEB2 MAGE family member B2 [ Homo sapiens (human) ]

Gene ID: 4113, updated on 3-Nov-2024

Summary

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Official Symbol
MAGEB2provided by HGNC
Official Full Name
MAGE family member B2provided by HGNC
Primary source
HGNC:HGNC:6809
See related
Ensembl:ENSG00000099399 MIM:300098; AllianceGenome:HGNC:6809
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
DAM6; CT3.2; MAGE-XP-2
Summary
This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 20.5) See more
Orthologs
all
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Genomic context

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See MAGEB2 in Genome Data Viewer
Location:
Xp21.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (30215563..30220089)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (29807905..29812440)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (30233680..30238206)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MAGE family member A10 pseudogene Neighboring gene uncharacterized LOC107985632 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30232864-30234063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:30236871-30237370 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:30237442-30238027 Neighboring gene NANOG hESC enhancer GRCh37_chrX:30246492-30247101 Neighboring gene MAGE family member B3 Neighboring gene NANOG hESC enhancer GRCh37_chrX:30259792-30260365 Neighboring gene MAGE family member B4 Neighboring gene MAGE family member B1

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. MAGEB2 is activated by promoter demethylation in head and neck squamous cell carcinoma. Pattani KM, et al. PLoS One, 2012. PMID 23029077, Free PMC Article
  2. Aberrant demethylation and expression of MAGEB2 in a subset of malignant peripheral nerve sheath tumors from neurofibromatosis type 1. Nobeyama Y, et al. J Dermatol Sci, 2016 Feb. PMID 26642794
  3. Cancer germline antigen gene MAGEB2 promotes cell invasion and correlates with immune microenvironment and immunotherapeutic efficiency in laryngeal cancer. Cui J, et al. Clin Immunol, 2022 Jul. PMID 35618211
  4. MAGE Xp-2: a member of the MAGE gene family isolated from an expression library using systemic lupus erythematosus sera. McCurdy DK, et al. Mol Genet Metab, 1998 Jan. PMID 9538511
  5. Hypertonicity induction of melanoma antigen, a tumor-associated antigen. Park JH, et al. Mol Cells, 2002 Apr 30. PMID 12018852

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cancer germline antigen gene MAGEB2 promotes cell invasion and correlates with immune microenvironment and immunotherapeutic efficiency in laryngeal cancer.
    Title: Cancer germline antigen gene MAGEB2 promotes cell invasion and correlates with immune microenvironment and immunotherapeutic efficiency in laryngeal cancer.
  2. Expression of the tumor-expressed protein MageB2 enhances rRNA transcription.
    Title: Expression of the tumor-expressed protein MageB2 enhances rRNA transcription.
  3. MAGEB2 can be aberrantly demethylated and expressed in malignant peripheral nerve sheath tumors. Conversely, the gene may not be demethylated in any types of neurofibroma, suggesting that the demethylation does not occur before malignant transformation.
    Title: Aberrant demethylation and expression of MAGEB2 in a subset of malignant peripheral nerve sheath tumors from neurofibromatosis type 1.
  4. MageB2 counteracts E2F inhibition by ribosomal proteins independently of Mdm2 expression
    Title: Human MageB2 Protein Expression Enhances E2F Transcriptional Activity, Cell Proliferation, and Resistance to Ribotoxic Stress.
  5. we identified MAGEB2 as activated by promoter demethylation in HNSCCand demonstrates growth promoting effects in a minimally transformed oral keratinocyte cell line.
    Title: MAGEB2 is activated by promoter demethylation in head and neck squamous cell carcinoma.
  6. Valproic acid causes a change in acetylation of this gene.
    Title: Valproate induces widespread epigenetic reprogramming which involves demethylation of specific genes.
  7. Results show that hypertonic culture medium differentially induces the expression of melanoma antigens B1 and B2 (MAGE-B1, -B2) in different human tumor cell lines.
    Title: Hypertonicity induction of melanoma antigen, a tumor-associated antigen.
Submit: New GeneRIF Correction

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

  • MGC26438

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 B2
Names
DSS/AHC critical interval MAGE superfamily 6
MAGE XP-2 antigen
MAGE-B2 antigen
cancer/testis antigen 3.2
cancer/testis antigen family 3, member 2
melanoma antigen family B, 2
melanoma antigen family B2

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_013246.1 RefSeqGene

    Range
    5006..9532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002364.5 → NP_002355.2  melanoma-associated antigen B2

    See identical proteins and their annotated locations for NP_002355.2

    Status: REVIEWED

    Source sequence(s)
    AC005185, AK223081
    Consensus CDS
    CCDS14219.1
    UniProtKB/Swiss-Prot
    O15479, O75860
    UniProtKB/TrEMBL
    B2R8F3
    Related
    ENSP00000368273.4, ENST00000378988.5
    Conserved Domains (2) summary
    pfam01454
    Location:139 → 286
    MAGE; MAGE family
    pfam12440
    Location:5 → 93
    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
    30215563..30220089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545512.2 → XP_011543814.1  melanoma-associated antigen B2 isoform X1

    See identical proteins and their annotated locations for XP_011543814.1

    UniProtKB/Swiss-Prot
    O15479, O75860
    UniProtKB/TrEMBL
    B2R8F3
    Conserved Domains (2) summary
    pfam01454
    Location:139 → 286
    MAGE; MAGE family
    pfam12440
    Location:5 → 93
    MAGE_N; Melanoma associated antigen family N terminal

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    29807905..29812440
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327066.1 → XP_054183041.1  melanoma-associated antigen B2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15479.3 GenPept UniProtKB/Swiss-Prot:O15479

Gene LinkOut

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

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