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MAGEA9B MAGE family member A9B [ Homo sapiens (human) ]

Gene ID: 728269, updated on 5-Mar-2024

Summary

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Official Symbol
MAGEA9Bprovided by HGNC
Official Full Name
MAGE family member A9Bprovided by HGNC
Primary source
HGNC:HGNC:31909
See related
Ensembl:ENSG00000267978 MIM:300764; AllianceGenome:HGNC:31909
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
MAGEA9B is a duplication of the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about 194 kb (Hartz, 2009).[supplied by OMIM, Mar 2009]
Expression
Restricted expression toward testis (RPKM 5.9) See more
Orthologs
all
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Genomic context

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Location:
Xq28
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (149581653..149587511, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (147847407..147853265, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (148663309..148669116, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene IDSP1 recombination region Neighboring gene EOLA1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21043 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:148621960-148622150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30016 Neighboring gene endothelium and lymphocyte associated ASCH domain 1 Neighboring gene heat shock transcription factor family, X-linked member 3 Neighboring gene transmembrane protein 185A Neighboring gene heat shock transcription factor family, X-linked 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21045 Neighboring gene FRAXF repeat instability region

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. Molecular and phenotypic variation in patients with severe Hunter syndrome. Timms KM, et al. Hum Mol Genet, 1997 Mar. PMID 9147653
  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. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
  5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

See all (13) 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

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 9
Names
CT1.9
MAGE-9 antigen
cancer/testis antigen 1.9
melanoma antigen family A, 9B
melanoma antigen family A9B

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_001080790.1 → NP_001074259.1  melanoma-associated antigen 9

    See identical proteins and their annotated locations for NP_001074259.1

    Status: VALIDATED

    Source sequence(s)
    AC016940, DB015621
    Consensus CDS
    CCDS35423.1
    UniProtKB/Swiss-Prot
    A8K8A7, P43362, Q7Z5K4, Q92910
    Related
    ENSP00000471017.1, ENST00000595065.6
    Conserved Domains (2) summary
    pfam01454
    Location:128 → 279
    MAGE; MAGE family
    pfam12440
    Location:5 → 80
    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
    149581653..149587511 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452436.2 → XP_024308204.1  melanoma-associated antigen 9 isoform X1

    UniProtKB/Swiss-Prot
    A8K8A7, P43362, Q7Z5K4, Q92910
    Conserved Domains (2) summary
    pfam01454
    Location:128 → 279
    MAGE; MAGE family
    pfam12440
    Location:5 → 80
    MAGE_N; Melanoma associated antigen family N terminal

  2. XM_005278193.4 → XP_005278250.1  melanoma-associated antigen 9 isoform X1

    See identical proteins and their annotated locations for XP_005278250.1

    UniProtKB/Swiss-Prot
    A8K8A7, P43362, Q7Z5K4, Q92910
    Conserved Domains (2) summary
    pfam01454
    Location:128 → 279
    MAGE; MAGE family
    pfam12440
    Location:5 → 80
    MAGE_N; Melanoma associated antigen family N terminal

  3. XM_024452437.2 → XP_024308205.1  melanoma-associated antigen 9 isoform X1

    UniProtKB/Swiss-Prot
    A8K8A7, P43362, Q7Z5K4, Q92910
    Conserved Domains (2) summary
    pfam01454
    Location:128 → 279
    MAGE; MAGE family
    pfam12440
    Location:5 → 80
    MAGE_N; Melanoma associated antigen family N terminal

  4. XM_005278192.4 → XP_005278249.1  melanoma-associated antigen 9 isoform X1

    See identical proteins and their annotated locations for XP_005278249.1

    UniProtKB/Swiss-Prot
    A8K8A7, P43362, Q7Z5K4, Q92910
    Conserved Domains (2) summary
    pfam01454
    Location:128 → 279
    MAGE; MAGE family
    pfam12440
    Location:5 → 80
    MAGE_N; Melanoma associated antigen family N terminal

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    147847407..147853265 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327680.1 → XP_054183655.1  melanoma-associated antigen 9 isoform X1

    UniProtKB/Swiss-Prot
    A8K8A7, P43362, Q7Z5K4, Q92910

  2. XM_054327682.1 → XP_054183657.1  melanoma-associated antigen 9 isoform X1

    UniProtKB/Swiss-Prot
    A8K8A7, P43362, Q7Z5K4, Q92910

  3. XM_054327683.1 → XP_054183658.1  melanoma-associated antigen 9 isoform X1

    UniProtKB/Swiss-Prot
    A8K8A7, P43362, Q7Z5K4, Q92910

  4. XM_054327681.1 → XP_054183656.1  melanoma-associated antigen 9 isoform X1

    UniProtKB/Swiss-Prot
    A8K8A7, P43362, Q7Z5K4, Q92910
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P43362.1 GenPept UniProtKB/Swiss-Prot:P43362

Gene LinkOut

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