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MAGEB17 MAGE family member B17 [ Homo sapiens (human) ]

Gene ID: 645864, updated on 5-Mar-2024

Summary

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Official Symbol
MAGEB17provided by HGNC
Official Full Name
MAGE family member B17provided by HGNC
Primary source
HGNC:HGNC:17418
See related
Ensembl:ENSG00000182798 MIM:300763; AllianceGenome:HGNC:17418
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 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:
Xp22.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (16167481..16171464)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (15750384..15754369)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (16185604..16189587)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chrX:15961157-15961364 Neighboring gene SET pseudogene 15 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:16060812-16061354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:16065714-16066214 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chrX:16094875-16095376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29452 Neighboring gene Sharpr-MPRA regulatory region 9466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20677 Neighboring gene MAGEB17 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:16178523-16179722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:16186339-16187224 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:16197237-16197862 Neighboring gene gastrin releasing peptide receptor Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:16203427-16204626 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:16204620-16205364 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:16233634-16234454 Neighboring gene ribosomal protein L6 pseudogene 30 Neighboring gene uncharacterized LOC124905249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29453 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:16464669-16465194 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:16465195-16465720

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. An overview of the MAGE gene family with the identification of all human members of the family. Chomez P, et al. Cancer Res, 2001 Jul 15. PMID 11454705
  2. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
  3. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

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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Homology

Gene Ontology Provided by GOA

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 B17
Names
melanoma antigen family B, 17 (pseudogene)
melanoma antigen family B17

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_001277307.2 → NP_001264236.1  melanoma-associated antigen B17

    See identical proteins and their annotated locations for NP_001264236.1

    Status: VALIDATED

    Source sequence(s)
    AC078993, DV080535
    Consensus CDS
    CCDS59524.1
    UniProtKB/Swiss-Prot
    A6NE98, A8MXT2
    Related
    ENSP00000382884.2, ENST00000400004.6
    Conserved Domains (2) summary
    pfam01454
    Location:116 → 284
    MAGE; MAGE family
    pfam12440
    Location:5 → 91
    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
    16167481..16171464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442355.1 → XP_047298311.1  melanoma-associated antigen B17 isoform X1

    UniProtKB/Swiss-Prot
    A6NE98, A8MXT2
    Related
    ENSP00000382883.1, ENST00000400003.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    15750384..15754369
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327575.1 → XP_054183550.1  melanoma-associated antigen B17 isoform X1

    UniProtKB/Swiss-Prot
    A6NE98, A8MXT2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A8MXT2.3 GenPept UniProtKB/Swiss-Prot:A8MXT2

Gene LinkOut

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

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