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    CTAGE1 cutaneous T cell lymphoma-associated antigen 1 [ Homo sapiens (human) ]

    Gene ID: 64693, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CTAGE1provided by HGNC
    Official Full Name
    cutaneous T cell lymphoma-associated antigen 1provided by HGNC
    Primary source
    HGNC:HGNC:24346
    See related
    Ensembl:ENSG00000212710 MIM:608856; AllianceGenome:HGNC:24346
    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
    Also known as
    CTAGE; CT21.1; CT21.2; CTAGE-1; CTAGE-2
    Summary
    Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport; protein secretion; and vesicle cargo loading. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum exit site and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    all
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    Genomic context

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    See CTAGE1 in Genome Data Viewer
    Location:
    18q11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (22413599..22417915, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (22599922..22604238, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (19993562..19997878, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:19903753-19904708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:19904709-19905663 Neighboring gene uncharacterized LOC105372019 Neighboring gene ATPase copper transporting beta pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:20032204-20032369 Neighboring gene uncharacterized LOC124904261 Neighboring gene uncharacterized LOC124904260

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Ectopic expression of cancer-testis antigens in cutaneous T-cell lymphoma patients. Litvinov IV, et al. Clin Cancer Res, 2014 Jul 15. PMID 24850846, Free PMC Article
    2. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Yuan E, et al. Hum Mol Genet, 2012 Oct 1. PMID 22752306, Free PMC Article
    3. cTAGE: a cutaneous T cell lymphoma associated antigen family with tumor-specific splicing. Usener D, et al. J Invest Dermatol, 2003 Jul. PMID 12839582
    4. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. Thye T, et al. Nat Genet, 2010 Sep. PMID 20694014, Free PMC Article
    5. Serological detection of cutaneous T-cell lymphoma-associated antigens. Eichmuller S, et al. Proc Natl Acad Sci U S A, 2001 Jan 16. PMID 11149944, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SYCP1, cTAGE1, and GTSF1 are expressed in cutaneous T-cell lymphoma, but not in normal skin or benign inflammatory dermatoses.
      Title: Ectopic expression of cancer-testis antigens in cutaneous T-cell lymphoma patients.
    2. Loss of TSC2 in the brain correlates with survival and abnormal behavior.
      Title: Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.
    3. cTAGE-1 and cTAGE-5 are new cancer germline antigens and that tumor-specific splicing of cTAGE genes may lead to further candidate proteins for specific immunotherapy of cutaneous T cell lymphoma and other malignancies.
      Title: cTAGE: a cutaneous T cell lymphoma associated antigen family with tumor-specific splicing.
    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
    Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
    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

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle cargo loading 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 endoplasmic reticulum exit site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cTAGE family member 2
    Names
    cancer/testis antigen 21.2
    cancer/testis antigen family 21, member 1
    cancer/testis antigen family 21, member 2
    cutaneous T-cell lymphoma-associated antigen 2
    protein cTAGE-2

    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_172241.3 → NP_758441.2  cTAGE family member 2

      See identical proteins and their annotated locations for NP_758441.2

      Status: VALIDATED

      Source sequence(s)
      AC099849
      Consensus CDS
      CCDS45837.1
      UniProtKB/Swiss-Prot
      A2RUF2, Q96RT6
      UniProtKB/TrEMBL
      Q8NEG8
      Related
      ENSP00000375220.2, ENST00000391403.4
      Conserved Domains (1) summary
      cl25732
      Location:55 → 350
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      22413599..22417915 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_014040928.1 Reference GRCh38.p14 PATCHES

      Range
      24920..29236 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      22599922..22604238 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022663.1: Suppressed sequence

      Description
      NM_022663.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96RT6.2 GenPept UniProtKB/Swiss-Prot:Q96RT6

    Gene LinkOut

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

    Chemical Information
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