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    MAGEA9B MAGE family member A9B [ Homo sapiens (human) ]

    Gene ID: 728269, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MAGEA9Bprovided by HGNC
    Official Full Name
    MAGE family member A9Bprovided by HGNC
    Primary source
    HGNC:HGNC:31909
    See related
    Ensembl:ENSG00000267978 MIM:300764; AllianceGenome:HGNC:31909
    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
    MAGEA9B is a duplication of the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about 194 kb (Hartz, 2009).[supplied by OMIM, Mar 2009]
    Expression
    Restricted expression toward testis (RPKM 5.9) See more
    Orthologs
    all
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    Genomic context

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    Location:
    Xq28
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (149581653..149587511, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (147847407..147853265, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (148663309..148669116, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene IDSP1 recombination region Neighboring gene EOLA1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21043 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:148621960-148622150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30016 Neighboring gene endothelium and lymphocyte associated ASCH domain 1 Neighboring gene heat shock transcription factor family, X-linked member 3 Neighboring gene transmembrane protein 185A Neighboring gene heat shock transcription factor family, X-linked 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21045 Neighboring gene FRAXF repeat instability region

    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. Molecular and phenotypic variation in patients with severe Hunter syndrome. Timms KM, et al. Hum Mol Genet, 1997 Mar. PMID 9147653
    2. The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28. Rogner UC, et al. Genomics, 1995 Oct 10. PMID 8575766
    3. Structure, chromosomal localization, and expression of 12 genes of the MAGE family. De Plaen E, et al. Immunogenetics, 1994. PMID 7927540
    4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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 histone deacetylase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    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 cellular_component ND
    No biological Data available
    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 9
    Names
    CT1.9
    MAGE-9 antigen
    cancer/testis antigen 1.9
    melanoma antigen family A, 9B
    melanoma antigen family A9B

    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_001080790.1 → NP_001074259.1  melanoma-associated antigen 9

      See identical proteins and their annotated locations for NP_001074259.1

      Status: VALIDATED

      Source sequence(s)
      AC016940, DB015621
      Consensus CDS
      CCDS35423.1
      UniProtKB/Swiss-Prot
      A8K8A7, P43362, Q7Z5K4, Q92910
      Related
      ENSP00000471017.1, ENST00000595065.6
      Conserved Domains (2) summary
      pfam01454
      Location:128 → 279
      MAGE; MAGE family
      pfam12440
      Location:5 → 80
      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
      149581653..149587511 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452436.2 → XP_024308204.1  melanoma-associated antigen 9 isoform X1

      UniProtKB/Swiss-Prot
      A8K8A7, P43362, Q7Z5K4, Q92910
      Conserved Domains (2) summary
      pfam01454
      Location:128 → 279
      MAGE; MAGE family
      pfam12440
      Location:5 → 80
      MAGE_N; Melanoma associated antigen family N terminal

    2. XM_005278193.4 → XP_005278250.1  melanoma-associated antigen 9 isoform X1

      See identical proteins and their annotated locations for XP_005278250.1

      UniProtKB/Swiss-Prot
      A8K8A7, P43362, Q7Z5K4, Q92910
      Conserved Domains (2) summary
      pfam01454
      Location:128 → 279
      MAGE; MAGE family
      pfam12440
      Location:5 → 80
      MAGE_N; Melanoma associated antigen family N terminal

    3. XM_024452437.2 → XP_024308205.1  melanoma-associated antigen 9 isoform X1

      UniProtKB/Swiss-Prot
      A8K8A7, P43362, Q7Z5K4, Q92910
      Conserved Domains (2) summary
      pfam01454
      Location:128 → 279
      MAGE; MAGE family
      pfam12440
      Location:5 → 80
      MAGE_N; Melanoma associated antigen family N terminal

    4. XM_005278192.4 → XP_005278249.1  melanoma-associated antigen 9 isoform X1

      See identical proteins and their annotated locations for XP_005278249.1

      UniProtKB/Swiss-Prot
      A8K8A7, P43362, Q7Z5K4, Q92910
      Conserved Domains (2) summary
      pfam01454
      Location:128 → 279
      MAGE; MAGE family
      pfam12440
      Location:5 → 80
      MAGE_N; Melanoma associated antigen family N terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      147847407..147853265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327680.1 → XP_054183655.1  melanoma-associated antigen 9 isoform X1

      UniProtKB/Swiss-Prot
      A8K8A7, P43362, Q7Z5K4, Q92910

    2. XM_054327682.1 → XP_054183657.1  melanoma-associated antigen 9 isoform X1

      UniProtKB/Swiss-Prot
      A8K8A7, P43362, Q7Z5K4, Q92910

    3. XM_054327683.1 → XP_054183658.1  melanoma-associated antigen 9 isoform X1

      UniProtKB/Swiss-Prot
      A8K8A7, P43362, Q7Z5K4, Q92910

    4. XM_054327681.1 → XP_054183656.1  melanoma-associated antigen 9 isoform X1

      UniProtKB/Swiss-Prot
      A8K8A7, P43362, Q7Z5K4, Q92910
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43362.1 GenPept UniProtKB/Swiss-Prot:P43362

    Gene LinkOut

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