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    MAGEA8 MAGE family member A8 [ Homo sapiens (human) ]

    Gene ID: 4107, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MAGEA8provided by HGNC
    Official Full Name
    MAGE family member A8provided by HGNC
    Primary source
    HGNC:HGNC:6806
    See related
    Ensembl:ENSG00000156009 MIM:300341; AllianceGenome:HGNC:6806
    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
    CT1.8; MAGE8
    Summary
    This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2009]
    Expression
    Restricted expression toward placenta (RPKM 6.3) See more
    Orthologs
    all
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    Genomic context

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    See MAGEA8 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (149881183..149885825)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (148146881..148151523)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (149009983..149014599)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30020 Neighboring gene long intergenic non-protein coding RNA 850 Neighboring gene deoxyuridine triphosphatase pseudogene 4 Neighboring gene MAGEA8 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21049 Neighboring gene endothelium and lymphocyte associated ASCH domain 2 Neighboring gene heat shock transcription factor family, X-linked member 4 Neighboring gene EOLA2 divergent transcript

    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. Quantitative evaluation of the expression of MAGE genes in tumors by limiting dilution of cDNA libraries. Serrano A, et al. Int J Cancer, 1999 Nov 26. PMID 10521804
    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. Regulation of MAGE-A3/6 by the CRL4-DCAF12 ubiquitin ligase and nutrient availability. Ravichandran R, et al. EMBO Rep, 2019 Jul. PMID 31267705, Free PMC Article
    5. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article

    See all (22) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2182

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone deacetylase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 8
    Names
    MAGE-8 antigen
    cancer/testis antigen 1.8
    cancer/testis antigen family 1, member 8
    melanoma antigen family A, 8
    melanoma antigen family A8

    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_015868.2 RefSeqGene

      Range
      5002..9644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166400.2 → NP_001159872.1  melanoma-associated antigen 8

      See identical proteins and their annotated locations for NP_001159872.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 all encode the same protein.
      Source sequence(s)
      AC244099, AK313943, BC002455
      Consensus CDS
      CCDS14692.1
      UniProtKB/Swiss-Prot
      P43361, Q9BUN9
      UniProtKB/TrEMBL
      B2R9W4
      Related
      ENSP00000438293.1, ENST00000535454.5
      Conserved Domains (2) summary
      pfam01454
      Location:119 → 283
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    2. NM_001166401.2 → NP_001159873.1  melanoma-associated antigen 8

      See identical proteins and their annotated locations for NP_001159873.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 all encode the same protein.
      Source sequence(s)
      AK313943, BC002455, BI092675
      Consensus CDS
      CCDS14692.1
      UniProtKB/Swiss-Prot
      P43361, Q9BUN9
      UniProtKB/TrEMBL
      B2R9W4
      Related
      ENSP00000443776.1, ENST00000542674.5
      Conserved Domains (2) summary
      pfam01454
      Location:119 → 283
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    3. NM_005364.5 → NP_005355.2  melanoma-associated antigen 8

      See identical proteins and their annotated locations for NP_005355.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 all encode the same protein.
      Source sequence(s)
      AK313943, BC002455
      Consensus CDS
      CCDS14692.1
      UniProtKB/Swiss-Prot
      P43361, Q9BUN9
      UniProtKB/TrEMBL
      B2R9W4
      Related
      ENSP00000286482.1, ENST00000286482.6
      Conserved Domains (2) summary
      pfam01454
      Location:119 → 283
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      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
      149881183..149885825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      148146881..148151523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43361.2 GenPept UniProtKB/Swiss-Prot:P43361

    Gene LinkOut

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

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