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MAGEB3 MAGE family member B3 [ Homo sapiens (human) ]

Gene ID: 4114, updated on 5-Mar-2024

Summary

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Official Symbol
MAGEB3provided by HGNC
Official Full Name
MAGE family member B3provided by HGNC
Primary source
HGNC:HGNC:6810
See related
Ensembl:ENSG00000198798 MIM:300152; AllianceGenome:HGNC:6810
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
CT3.5
Summary
This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of tumor antigens recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters of MAGE genes on chromosome X. The members of the MAGE-A subfamily are located in the Xq28 region, while the members of the MAGE-B subfamily are clustered in the Xp21 region. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 3.0) See more
Orthologs
all
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Genomic context

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Location:
Xp21.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (30230657..30237495)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (29823006..29829848)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (30248774..30255612)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985632 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30232864-30234063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:30236871-30237370 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:30237442-30238027 Neighboring gene MAGE family member B2 Neighboring gene NANOG hESC enhancer GRCh37_chrX:30246492-30247101 Neighboring gene NANOG hESC enhancer GRCh37_chrX:30259792-30260365 Neighboring gene MAGE family member B4 Neighboring gene MAGE family member B1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:30274564-30274739 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:30300409-30300510 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30301194-30302393 Neighboring gene CRISPRi-validated cis-regulatory element chrX.505 Neighboring gene phospholipase C epsilon 1 pseudogene 1

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. Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins. Lurquin C, et al. Genomics, 1997 Dec 15. PMID 9441743
  2. MAGE-B5, MAGE-B6, MAGE-C2, and MAGE-C3: four new members of the MAGE family with tumor-specific expression. Lucas S, et al. Int J Cancer, 2000 Jul 1. PMID 10861452
  3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

See all (12) 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)

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 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 B3
Names
MAGE-B3 antigen
cancer/testis antigen family 3, member 5
melanoma antigen family B, 3
melanoma antigen family B3

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_015869.2 RefSeqGene

    Range
    5002..11840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001386865.1 → NP_001373794.1  melanoma-associated antigen B3

    Status: REVIEWED

    Source sequence(s)
    AC005185
    Consensus CDS
    CCDS14220.1
    UniProtKB/Swiss-Prot
    A0AVE4, B3KQ52, O15480, O75861
    Related
    ENSP00000478513.1, ENST00000620842.1
    Conserved Domains (2) summary
    pfam01454
    Location:129 → 286
    MAGE; MAGE family
    pfam12440
    Location:5 → 93
    MAGE_N; Melanoma associated antigen family N terminal

  2. NM_002365.5 → NP_002356.2  melanoma-associated antigen B3

    See identical proteins and their annotated locations for NP_002356.2

    Status: REVIEWED

    Source sequence(s)
    AC005185
    Consensus CDS
    CCDS14220.1
    UniProtKB/Swiss-Prot
    A0AVE4, B3KQ52, O15480, O75861
    Related
    ENSP00000355198.2, ENST00000361644.4
    Conserved Domains (2) summary
    pfam01454
    Location:129 → 286
    MAGE; MAGE family
    pfam12440
    Location:5 → 93
    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
    30230657..30237495
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545513.3 → XP_011543815.1  melanoma-associated antigen B3 isoform X1

    See identical proteins and their annotated locations for XP_011543815.1

    UniProtKB/Swiss-Prot
    A0AVE4, B3KQ52, O15480, O75861
    Conserved Domains (2) summary
    pfam01454
    Location:129 → 286
    MAGE; MAGE family
    pfam12440
    Location:5 → 93
    MAGE_N; Melanoma associated antigen family N terminal

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    29823006..29829848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327067.1 → XP_054183042.1  melanoma-associated antigen B3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15480.2 GenPept UniProtKB/Swiss-Prot:O15480

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