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    MAGEA2B MAGE family member A2B [ Homo sapiens (human) ]

    Gene ID: 266740, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MAGEA2Bprovided by HGNC
    Official Full Name
    MAGE family member A2Bprovided by HGNC
    Primary source
    HGNC:HGNC:19340
    See related
    Ensembl:ENSG00000183305 MIM:300549; AllianceGenome:HGNC:19340
    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
    CT1.2; MAGE2
    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. This gene has two identical copies at different loci. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 2.9) See more
    Orthologs
    all
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    Genomic context

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    See MAGEA2B in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152714586..152718607)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (150981168..150985189)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151883075..151887096)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905224 Neighboring gene CSAG family member 2 Neighboring gene chondrosarcoma associated gene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:151902449-151903648 Neighboring gene MAGE family member A12 Neighboring gene CSAG family member 4 (pseudogene)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Sequence and expression pattern of the human MAGE2 gene. De Smet C, et al. Immunogenetics, 1994. PMID 8276455
    2. A gene encoding an antigen recognized by cytolytic T lymphocytes on a human melanoma. van der Bruggen P, et al. Science, 1991 Dec 13. PMID 1840703
    3. Human gene MAGE-3 codes for an antigen recognized on a melanoma by autologous cytolytic T lymphocytes. Gaugler B, et al. J Exp Med, 1994 Mar 1. PMID 8113684, Free PMC Article
    4. MageA2 restrains cellular senescence by targeting the function of PMLIV/p53 axis at the PML-NBs. Peche LY, et al. Cell Death Differ, 2012 Jun. PMID 22117195, Free PMC Article
    5. MAGE-A tumor antigens target p53 transactivation function through histone deacetylase recruitment and confer resistance to chemotherapeutic agents. Monte M, et al. Proc Natl Acad Sci U S A, 2006 Jul 25. PMID 16847267, Free PMC Article

    See all (19) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC16973

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone deacetylase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone deacetylase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular senescence IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein acetylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein sumoylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of ubiquitin-protein transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction by p53 class mediator IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    melanoma-associated antigen 2
    Names
    MAGE-2 antigen
    cancer/testis antigen 1.2
    melanoma antigen 2
    melanoma antigen family A, 2B
    melanoma antigen family A2B
    melanoma antigen, family A, 2, copy b

    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_001321400.1 → NP_001308329.1  melanoma-associated antigen 2

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 through 6 encode the same protein.
      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76046.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    2. NM_001321401.1 → NP_001308330.1  melanoma-associated antigen 2

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 through 6 encode the same protein.
      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76046.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    3. NM_001321402.1 → NP_001308331.1  melanoma-associated antigen 2

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 through 6 encode the same protein.
      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76046.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Related
      ENSP00000333487.2, ENST00000331220.6
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    4. NM_001321403.1 → NP_001308332.1  melanoma-associated antigen 2

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 through 6 encode the same protein.
      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76046.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    5. NM_001321404.1 → NP_001308333.1  melanoma-associated antigen 2

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 through 6 encode the same protein.
      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76046.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    6. NM_001386132.1 → NP_001373061.1  melanoma-associated antigen 2

      Status: REVIEWED

      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76046.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Related
      ENSP00000507594.1, ENST00000682532.1
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      MAGE; MAGE family
      pfam12440
      Location:5 → 94
      MAGE_N; Melanoma associated antigen family N terminal

    7. NM_153488.4 → NP_705692.1  melanoma-associated antigen 2

      See identical proteins and their annotated locations for NP_705692.1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 through 6 encode the same protein.
      Source sequence(s)
      AC244102
      Consensus CDS
      CCDS76046.1
      UniProtKB/Swiss-Prot
      A8K328, P43356, Q32NC6
      UniProtKB/TrEMBL
      Q6P448, Q96E03
      Related
      ENSP00000359316.2, ENST00000370293.6
      Conserved Domains (2) summary
      pfam01454
      Location:116 → 280
      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
      152714586..152718607
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791818.1 Reference GRCh38.p14 PATCHES

      Range
      365033..369054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      150981168..150985189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43356.1 GenPept UniProtKB/Swiss-Prot:P43356

    Gene LinkOut

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    Chemical Information
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    Research Materials