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    MAGEB3 MAGE family member B3 [ Homo sapiens (human) ]

    Gene ID: 4114, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MAGEB3provided by HGNC
    Official Full Name
    MAGE family member B3provided by HGNC
    Primary source
    HGNC:HGNC:6810
    See related
    Ensembl:ENSG00000198798 MIM:300152; AllianceGenome:HGNC:6810
    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
    CT3.5
    Summary
    This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of tumor antigens recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters of MAGE genes on chromosome X. The members of the MAGE-A subfamily are located in the Xq28 region, while the members of the MAGE-B subfamily are clustered in the Xp21 region. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 3.0) See more
    Orthologs
    all
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    Genomic context

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    Location:
    Xp21.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (30230657..30237495)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (29823006..29829848)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (30248774..30255612)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes 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 MAGE family member B2 Neighboring gene NANOG hESC enhancer GRCh37_chrX:30246492-30247101 Neighboring gene NANOG hESC enhancer GRCh37_chrX:30259792-30260365 Neighboring gene MAGE family member B4 Neighboring gene MAGE family member B1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:30274564-30274739 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:30300409-30300510 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30301194-30302393 Neighboring gene CRISPRi-validated cis-regulatory element chrX.505 Neighboring gene phospholipase C epsilon 1 pseudogene 1

    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. Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins. Lurquin C, et al. Genomics, 1997 Dec 15. PMID 9441743
    2. MAGE-B5, MAGE-B6, MAGE-C2, and MAGE-C3: four new members of the MAGE family with tumor-specific expression. Lucas S, et al. Int J Cancer, 2000 Jul 1. PMID 10861452
    3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

    See all (12) 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

    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

    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 B3
    Names
    MAGE-B3 antigen
    cancer/testis antigen family 3, member 5
    melanoma antigen family B, 3
    melanoma antigen family B3

    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_015869.2 RefSeqGene

      Range
      5002..11840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001386865.1 → NP_001373794.1  melanoma-associated antigen B3

      Status: REVIEWED

      Source sequence(s)
      AC005185
      Consensus CDS
      CCDS14220.1
      UniProtKB/Swiss-Prot
      A0AVE4, B3KQ52, O15480, O75861
      Related
      ENSP00000478513.1, ENST00000620842.1
      Conserved Domains (2) summary
      pfam01454
      Location:129 → 286
      MAGE; MAGE family
      pfam12440
      Location:5 → 93
      MAGE_N; Melanoma associated antigen family N terminal

    2. NM_002365.5 → NP_002356.2  melanoma-associated antigen B3

      See identical proteins and their annotated locations for NP_002356.2

      Status: REVIEWED

      Source sequence(s)
      AC005185
      Consensus CDS
      CCDS14220.1
      UniProtKB/Swiss-Prot
      A0AVE4, B3KQ52, O15480, O75861
      Related
      ENSP00000355198.2, ENST00000361644.4
      Conserved Domains (2) summary
      pfam01454
      Location:129 → 286
      MAGE; MAGE family
      pfam12440
      Location:5 → 93
      MAGE_N; Melanoma associated antigen family N terminal

    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
      30230657..30237495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545513.3 → XP_011543815.1  melanoma-associated antigen B3 isoform X1

      See identical proteins and their annotated locations for XP_011543815.1

      UniProtKB/Swiss-Prot
      A0AVE4, B3KQ52, O15480, O75861
      Conserved Domains (2) summary
      pfam01454
      Location:129 → 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
      29823006..29829848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327067.1 → XP_054183042.1  melanoma-associated antigen B3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15480.2 GenPept UniProtKB/Swiss-Prot:O15480

    Gene LinkOut

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