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    CTAG2 cancer/testis antigen 2 [ Homo sapiens (human) ]

    Gene ID: 30848, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CTAG2provided by HGNC
    Official Full Name
    cancer/testis antigen 2provided by HGNC
    Primary source
    HGNC:HGNC:2492
    See related
    Ensembl:ENSG00000126890 MIM:300396; AllianceGenome:HGNC:2492
    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
    CT2; ESO2; CAMEL; CT6.2; CT6.2a; CT6.2b; LAGE-1; LAGE2B
    Summary
    This gene encodes an autoimmunogenic tumor antigen that belongs to the ESO/LAGE family of cancer-testis antigens. This protein is expressed in a wide array of cancers including melanoma, breast cancer, bladder cancer and prostate cancer. This protein is also expressed in normal testis tissue. An alternative open reading frame product of this gene has been described in PMID:10399963. This alternate protein, termed CAMEL, is a tumor antigen that is recognized by melanoma-specific cytotoxic T-lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Expression
    Biased expression in testis (RPKM 2.5), placenta (RPKM 1.4) and 2 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CTAG2 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154651977..154653579, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152888418..152890020, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153880251..153881853, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 223 member B Neighboring gene IKBKGP1 upstream recombination region Neighboring gene inhibitor of nuclear factor kappa B kinase subunit gamma pseudogene 1 Neighboring gene IKBKGP1 recombination region Neighboring gene uncharacterized LOC105373387 Neighboring gene olfactory receptor family 3 subfamily B member 1 pseudogene

    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 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. Dominant B cell epitope from NY-ESO-1 recognized by sera from a wide spectrum of cancer patients: implications as a potential biomarker. Zeng G, et al. Int J Cancer, 2005 Mar 20. PMID 15540228
    2. Identification of multiple HLA-DR-restricted epitopes of the tumor-associated antigen CAMEL by CD4+ Th1/Th2 lymphocytes. Slager EH, et al. J Immunol, 2004 Apr 15. PMID 15067093
    3. A new specific gene expression in squamous cell carcinoma of the esophagus detected using representational difference analysis and cDNA microarray. Kan T, et al. Oncology, 2006. PMID 16446548
    4. Identification and expression analysis of novel LAGE-1 alleles with single nucleotide polymorphisms in cancer patients. Shao Y, et al. J Cancer Res Clin Oncol, 2008 Apr. PMID 17899192
    5. CD4+ Th2 cell recognition of HLA-DR-restricted epitopes derived from CAMEL: a tumor antigen translated in an alternative open reading frame. Slager EH, et al. J Immunol, 2003 Feb 1. PMID 12538712

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The tumor suppressor function of LSAMP is most likely exerted by reducing the proliferation rate of the tumor cells, possibly by indirectly upregulating one or more of the genes HES1, CTAG2 or KLF10.
      Title: Reexpression of LSAMP inhibits tumor growth in a preclinical osteosarcoma model.
    2. NYESO-1/LAGE-1s and PRAME are targets for antigen specific T cells in chondrosarcoma following treatment with 5-Aza-2-deoxycitabine
      Title: NYESO-1/LAGE-1s and PRAME are targets for antigen specific T cells in chondrosarcoma following treatment with 5-Aza-2-deoxycitabine.
    3. LAGE-1a and NY-ESO-1 homology cannot be easily exploited in an anti-NY-ESO-1 vaccine given the low frequency of protein expression detected by IHC or serum analysis.
      Title: Evaluation of LAGE-1 and NY-ESO-1 expression in multiple myeloma patients to explore possible benefits of their homology for immunotherapy.
    4. Spontaneous LAGE-1-specific CD4-positive T cells isolated from patients with advanced LAGE-1-positive/NY-ESO-1-positive melanoma are directed against three promiscuous and immunodominant epitopes.
      Title: Epitope hierarchy of spontaneous CD4+ T cell responses to LAGE-1.
    5. We evaluated the correlations among the expression levels of NY-ESO-1, LAGE-1 and SSX-1 and clinical parameters in hepatocellular carcinoma patients
      Title: Comparisons for detecting NY-ESO-1 mRNA expression levels in hepatocellular carcinoma tissues.
    6. There is a high frequency of the LAGE-1 gene allele with SNPs in coding regions in cancer patients.
      Title: Identification and expression analysis of novel LAGE-1 alleles with single nucleotide polymorphisms in cancer patients.
    7. MAGEC1/CT7, MAGEA3/6 and LAGE-1 are good candidates for immunotherapy, since together they cover 85% of the multiple myeloma cases.
      Title: Prognostic impact of cancer/testis antigen expression in advanced stage multiple myeloma patients.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Identification and expression analysis of novel LAGE-1 alleles with single nucleotide polymorphisms in cancer patients.
    9. Data support the immunogenicity of NY-ESO-1/LAGE-1 ORF2 gene products and clearly demonstrate their capability to stimulate T-helper 1 type CD4+ T cells.
      Title: The alternative open reading frame of LAGE-1 gives rise to multiple promiscuous HLA-DR-restricted epitopes recognized by T-helper 1-type tumor-reactive CD4+ T cells.
    10. Data showed aberrant expression of NY-ESO-1 and LAGE-1 by IHC/RT-PCR in a significant proportion of epithelial ovarian cancer patients.
      Title: NY-ESO-1 and LAGE-1 cancer-testis antigens are potential targets for immunotherapy in epithelial ovarian cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3803, MGC138724

    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 tRNA threonylcarbamoyladenosine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    cancer/testis antigen 2
    Names
    CTL-recognized antigen on melanoma
    LAGE-1a protein
    autoimmunogenic cancer/testis antigen NY-ESO-2
    cancer/testis antigen 6.2
    cancer/testis antigen family 6, member 2a
    cancer/testis antigen family 6, member 2b
    l antigen family member 1

    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_021275.2 RefSeqGene

      Range
      5001..6603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020994.5 → NP_066274.2  cancer/testis antigen 2 isoform LAGE-1b

      See identical proteins and their annotated locations for NP_066274.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional segment in the 3' coding region which results in a frameshift, compared to variant 1. The encoded isoform (LAGE-1b, also known as LAGE-1L) is longer and has a distinct C-terminus, compared to isoform LAGE-1a.
      Source sequence(s)
      AJ223040, BC002833
      Consensus CDS
      CCDS14759.1
      UniProtKB/Swiss-Prot
      O75637, O75638, Q0VIL6, Q14CD6, Q2Z1N4, Q9BU80, Q9UJ89, Q9Y479
      Related
      ENSP00000247306.4, ENST00000247306.4
      Conserved Domains (1) summary
      pfam09341
      Location:90 → 141
      Pcc1; Transcription factor Pcc1

    2. NM_172377.5 → NP_758965.2  cancer/testis antigen 2 isoform LAGE-1a

      See identical proteins and their annotated locations for NP_758965.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform LAGE-1a (also known as LAGE-1S).
      Source sequence(s)
      AJ223040, BC113998
      Consensus CDS
      CCDS35455.1
      UniProtKB/Swiss-Prot
      O75638
      Related
      ENSP00000358598.3, ENST00000369585.4
      Conserved Domains (1) summary
      pfam09341
      Location:90 → 162
      Pcc1; Transcription factor Pcc1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      154651977..154653579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152888418..152890020 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75638.3 GenPept UniProtKB/Swiss-Prot:O75638

    Gene LinkOut

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

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