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    MAGEB18 MAGE family member B18 [ Homo sapiens (human) ]

    Gene ID: 286514, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MAGEB18provided by HGNC
    Official Full Name
    MAGE family member B18provided by HGNC
    Primary source
    HGNC:HGNC:28515
    See related
    Ensembl:ENSG00000176774 MIM:301064; AllianceGenome:HGNC:28515
    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
    Summary
    Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See MAGEB18 in Genome Data Viewer
    Location:
    Xp21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (26138343..26140736)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (25725680..25728073)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (26156460..26158853)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RANBP1 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:25789605-25789784 Neighboring gene uncharacterized LOC107985707 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:25900047-25901246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:25995097-25995596 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:26177596-26178795 Neighboring gene MAGE family member B3 pseudogene Neighboring gene MAGE family member B6B

    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. Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. Kerns SL, et al. Int J Radiat Oncol Biol Phys, 2010 Dec 1. PMID 20932654, Free PMC Article
    2. MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. Doyle JM, et al. Mol Cell, 2010 Sep 24. PMID 20864041, Free PMC Article
    3. Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275563, Free PMC Article
    4. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article
    5. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    EBI GWAS Catalog

    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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    Homology

    Clone Names

    • MGC33889

    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
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    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 B18
    Names
    MAGE-B18 antigen
    melanoma antigen family B, 18
    melanoma antigen family B18

    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_016370.2 RefSeqGene

      Range
      5002..7395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173699.4 → NP_775970.2  melanoma-associated antigen B18

      Status: VALIDATED

      Source sequence(s)
      AC129850
      Consensus CDS
      CCDS14216.1
      UniProtKB/Swiss-Prot
      Q96M61
      Related
      ENSP00000314543.1, ENST00000325250.2
      Conserved Domains (2) summary
      pfam12440
      Location:5 → 92
      MAGE_N; Melanoma associated antigen family N terminal
      pfam01454
      Location:114 → 282
      MAGE; MAGE family

    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
      26138343..26140736
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      25725680..25728073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M61.2 GenPept UniProtKB/Swiss-Prot:Q96M61

    Gene LinkOut

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

    Chemical Information
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