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    MAGEB17 MAGE family member B17 [ Homo sapiens (human) ]

    Gene ID: 645864, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MAGEB17provided by HGNC
    Official Full Name
    MAGE family member B17provided by HGNC
    Primary source
    HGNC:HGNC:17418
    See related
    Ensembl:ENSG00000182798 MIM:300763; AllianceGenome:HGNC:17418
    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
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See MAGEB17 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (16167481..16171464)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (15750384..15754369)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (16185604..16189587)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chrX:15961157-15961364 Neighboring gene SET pseudogene 15 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:16060812-16061354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:16065714-16066214 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chrX:16094875-16095376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29452 Neighboring gene Sharpr-MPRA regulatory region 9466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20677 Neighboring gene MAGEB17 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:16178523-16179722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:16186339-16187224 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:16197237-16197862 Neighboring gene gastrin releasing peptide receptor Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:16203427-16204626 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:16204620-16205364 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:16233634-16234454 Neighboring gene ribosomal protein L6 pseudogene 30 Neighboring gene uncharacterized LOC124905249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29453 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:16464669-16465194 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:16465195-16465720

    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. 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
    2. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    3. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 B17
    Names
    melanoma antigen family B, 17 (pseudogene)
    melanoma antigen family B17

    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_001277307.2 → NP_001264236.1  melanoma-associated antigen B17

      See identical proteins and their annotated locations for NP_001264236.1

      Status: VALIDATED

      Source sequence(s)
      AC078993, DV080535
      Consensus CDS
      CCDS59524.1
      UniProtKB/Swiss-Prot
      A6NE98, A8MXT2
      Related
      ENSP00000382884.2, ENST00000400004.6
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 284
      MAGE; MAGE family
      pfam12440
      Location:5 → 91
      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
      16167481..16171464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442355.1 → XP_047298311.1  melanoma-associated antigen B17 isoform X1

      UniProtKB/Swiss-Prot
      A6NE98, A8MXT2
      Related
      ENSP00000382883.1, ENST00000400003.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      15750384..15754369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327575.1 → XP_054183550.1  melanoma-associated antigen B17 isoform X1

      UniProtKB/Swiss-Prot
      A6NE98, A8MXT2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MXT2.3 GenPept UniProtKB/Swiss-Prot:A8MXT2

    Gene LinkOut

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

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