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

Gene ID: 64693, updated on 5-Mar-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 integral component of membrane. Predicted to be active in endoplasmic reticulum exit site and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

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Location:
18q11.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (22413599..22417915, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (22599922..22604238, complement)
105.20220307 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 (11) 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_2023_10

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.

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