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

Gene ID: 4107, updated on 5-Mar-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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Location:
Xq28
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (149881183..149885825)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (148146881..148151523)
105.20220307 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)

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

  • MGC2182

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone deacetylase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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 cellular_component ND
No biological Data available
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 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_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
    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

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