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

Gene ID: 266740, updated on 5-Mar-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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Location:
Xq28
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152714586..152718607)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (150981168..150985189)
105.20220307 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: 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. Sequence and expression pattern of the human MAGE2 gene. De Smet C, et al. Immunogenetics, 1994. PMID 8276455
  2. 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
  3. 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
  4. 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
  5. 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

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)

Genotypes

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_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
    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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