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

    Gene ID: 4113, updated on 28-Oct-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. 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
    2. 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
    3. 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
    4. 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
    5. Hypertonicity induction of melanoma antigen, a tumor-associated antigen. Park JH, et al. Mol Cells, 2002 Apr 30. PMID 12018852

    See all (50) 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

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