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    BAGE2 BAGE family member 2 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 85319, updated on 17-Jun-2024

    Summary

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    Official Symbol
    BAGE2provided by HGNC
    Official Full Name
    BAGE family member 2 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:15723
    See related
    MIM:617776; AllianceGenome:HGNC:15723
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT2.2
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 3.0), thyroid (RPKM 0.8) and 20 other tissues See more
    Orthologs
    all
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    Genomic context

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    See BAGE2 in Genome Data Viewer
    Location:
    21p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (10413497..10518274)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (10608496..10714080, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (10994183..11098960, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11164508-11164790 Neighboring gene eukaryotic translation initiation factor 3 subunit F pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11149351-11149545 Neighboring gene Sharpr-MPRA regulatory region 1951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:11143879-11144379 Neighboring gene vomeronasal 1 receptor 7 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11110990-11111153 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11095452-11095553 Neighboring gene Sharpr-MPRA regulatory region 1956 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:11058865-11059648 Neighboring gene NANOG hESC enhancer GRCh37_chr21:11040874-11041867 Neighboring gene NANOG hESC enhancer GRCh37_chr21:11038995-11039496 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:11010869-11011015 Neighboring gene transmembrane phosphatase with tensin homology Neighboring gene uncharacterized LOC124905063 Neighboring gene CYCS pseudogene 41

    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. Mapping of the juxtacentromeric heterochromatin-euchromatin frontier of human chromosome 21. Grunau C, et al. Genome Res, 2006 Oct. PMID 16963709, Free PMC Article
    2. Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome. Shaw SW, et al. J Hum Genet, 2008. PMID 18074101
    3. Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms. Brun ME, et al. Gene, 2003 Jul 17. PMID 12909339
    4. BAGE genes generated by juxtacentromeric reshuffling in the Hominidae lineage are under selective pressure. Ruault M, et al. Genomics, 2003 Apr. PMID 12676563
    5. New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile. Ruault M, et al. Eur J Hum Genet, 2002 Dec. PMID 12461691

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Gene dosage change of BAGE2 is associated with Robertsonian Down syndrome
      Title: Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.
    Submit: New GeneRIF Correction

    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
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    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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    Markers

    Potential readthrough

    Included gene: TPTE

    Homology

    Other Names

    • B melanoma antigen family member 2
    • BAGE family member 2
    • cancer/testis antigen 2.2
    • cancer/testis antigen family 2, member 2
    • histone-lysine N-methyltransferase 2C

    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.

    RNA

    1. NR_169269.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AF254983

    2. NR_169270.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AF254983

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      10413497..10518274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      10608496..10714080 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182482.2: Suppressed sequence

      Description
      NM_182482.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version

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