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    MAGEB16 MAGE family member B16 [ Homo sapiens (human) ]

    Gene ID: 139604, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MAGEB16provided by HGNC
    Official Full Name
    MAGE family member B16provided by HGNC
    Primary source
    HGNC:HGNC:21188
    See related
    Ensembl:ENSG00000189023 MIM:300762; AllianceGenome:HGNC:21188
    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 active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 2.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See MAGEB16 in Genome Data Viewer
    Location:
    Xp21.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (35798342..35803772)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (35394326..35399316)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (35816459..35821889)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CDC42 binding protein kinase beta (DMPK-like) pseudogene Neighboring gene NFYC pseudogene 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chrX:35841387-35842135 Neighboring gene cilia and flagella associated protein 47 Neighboring gene RNA, U6 small nuclear 641, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:36216564-36217118 Neighboring gene high mobility group box 1 pseudogene 16

    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. Demethylation of CpG islands in the 5' upstream regions mediates the expression of the human testis-specific gene MAGEB16 and its mouse homolog Mageb16. Liu Y, et al. BMB Rep, 2014 Feb. PMID 24219866, Free PMC Article
    2. An overview of the MAGE gene family with the identification of all human members of the family. Chomez P, et al. Cancer Res, 2001 Jul 15. PMID 11454705
    3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The testis-specific expression of MAGEB16 and Mageb16 is regulated by the methylation status of their promoter regions.
      Title: Demethylation of CpG islands in the 5' upstream regions mediates the expression of the human testis-specific gene MAGEB16 and its mouse homolog Mageb16.
    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)

    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

    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 B16
    Names
    MAGE-B16 antigen
    melanoma antigen family B, 16 (pseudogene)
    melanoma antigen family B16

    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.

    mRNA and Protein(s)

    1. NM_001099921.2 → NP_001093391.1  melanoma-associated antigen B16 isoform 1

      See identical proteins and their annotated locations for NP_001093391.1

      Status: VALIDATED

      Source sequence(s)
      AL161722
      Consensus CDS
      CCDS43927.1
      UniProtKB/Swiss-Prot
      A2A368, A8MU30
      UniProtKB/TrEMBL
      A0A0A0MSA3
      Related
      ENSP00000382871.1, ENST00000399989.5
      Conserved Domains (2) summary
      pfam12440
      Location:5 → 90
      MAGE_N; Melanoma associated antigen family N terminal
      pfam01454
      Location:120 → 288
      MAGE; MAGE family

    2. NM_001370158.1 → NP_001357087.1  melanoma-associated antigen B16 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL161722
      Consensus CDS
      CCDS43927.1
      UniProtKB/Swiss-Prot
      A2A368, A8MU30
      UniProtKB/TrEMBL
      A0A0A0MSA3
      Related
      ENSP00000382870.1, ENST00000399988.6
      Conserved Domains (2) summary
      pfam12440
      Location:5 → 90
      MAGE_N; Melanoma associated antigen family N terminal
      pfam01454
      Location:120 → 288
      MAGE; MAGE family

    3. NM_001370159.1 → NP_001357088.1  melanoma-associated antigen B16 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL161722
      Consensus CDS
      CCDS43927.1
      UniProtKB/Swiss-Prot
      A2A368, A8MU30
      UniProtKB/TrEMBL
      A0A0A0MSA3
      Related
      ENSP00000382867.1, ENST00000399985.1
      Conserved Domains (2) summary
      pfam12440
      Location:5 → 90
      MAGE_N; Melanoma associated antigen family N terminal
      pfam01454
      Location:120 → 288
      MAGE; MAGE family

    4. NM_001426398.1 → NP_001413327.1  melanoma-associated antigen B16 isoform 2

      Status: VALIDATED

      Source sequence(s)
      CP068255

    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
      35798342..35803772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      35394326..35399316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2A368.2 GenPept UniProtKB/Swiss-Prot:A2A368

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
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