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MAGEB18 MAGE family member B18 [ Homo sapiens (human) ]

Gene ID: 286514, updated on 5-Mar-2024

Summary

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Official Symbol
MAGEB18provided by HGNC
Official Full Name
MAGE family member B18provided by HGNC
Primary source
HGNC:HGNC:28515
See related
Ensembl:ENSG00000176774 MIM:301064; AllianceGenome:HGNC:28515
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
Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
Xp21.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (26138343..26140736)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (25725680..25728073)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (26156460..26158853)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RANBP1 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:25789605-25789784 Neighboring gene uncharacterized LOC107985707 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:25900047-25901246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:25995097-25995596 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:26177596-26178795 Neighboring gene MAGE family member B3 pseudogene Neighboring gene MAGE family member B6B

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. Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. Kerns SL, et al. Int J Radiat Oncol Biol Phys, 2010 Dec 1. PMID 20932654, Free PMC Article
  2. MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. Doyle JM, et al. Mol Cell, 2010 Sep 24. PMID 20864041, Free PMC Article
  3. Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275563, Free PMC Article
  4. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article
  5. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article

See all (17) 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

EBI GWAS Catalog

Description
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
EBI GWAS Catalog

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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Homology

Clone Names

  • MGC33889

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
located_in cytoplasm IEA
Inferred from Electronic Annotation
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 B18
Names
MAGE-B18 antigen
melanoma antigen family B, 18
melanoma antigen family B18

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_016370.2 RefSeqGene

    Range
    5002..7395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_173699.4 → NP_775970.2  melanoma-associated antigen B18

    Status: VALIDATED

    Source sequence(s)
    AC129850
    Consensus CDS
    CCDS14216.1
    UniProtKB/Swiss-Prot
    Q96M61
    Related
    ENSP00000314543.1, ENST00000325250.2
    Conserved Domains (2) summary
    pfam12440
    Location:5 → 92
    MAGE_N; Melanoma associated antigen family N terminal
    pfam01454
    Location:114 → 282
    MAGE; MAGE family

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
    26138343..26140736
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    25725680..25728073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96M61.2 GenPept UniProtKB/Swiss-Prot:Q96M61

Gene LinkOut

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

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