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    TERC telomerase RNA component [ Homo sapiens (human) ]

    Gene ID: 7012, updated on 21-Oct-2018

    Summary

    Official Symbol
    TERCprovided by HGNC
    Official Full Name
    telomerase RNA componentprovided by HGNC
    Primary source
    HGNC:HGNC:11727
    See related
    Ensembl:ENSG00000277925 MIM:602322
    Gene type
    ncRNA
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TR; hTR; TRC3; DKCA1; PFBMFT2; SCARNA19
    Summary
    Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]

    Genomic context

    See TERC in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (169764610..169765060, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (169482398..169482848, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene succinate dehydrogenase complex subunit D pseudogene 3 Neighboring gene RNA, U6 small nuclear 637, pseudogene Neighboring gene telomerase RNA component (TERC) promoter Neighboring gene actin related protein T3 Neighboring gene transfer RNA-Val (AAC) 1-1 Neighboring gene myoneurin

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk.
    NHGRI GWA Catalog
    Common variants near TERC are associated with mean telomere length.
    NHGRI GWA Catalog
    Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    NHGRI GWA Catalog
    Genome-wide association study of relative telomere length.
    NHGRI GWA Catalog
    Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
    NHGRI GWA Catalog
    Identification of seven loci affecting mean telomere length and their association with disease.
    NHGRI GWA Catalog
    Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Other Names

    • small Cajal body-specific RNA 19

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    DNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cellular senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomere maintenance via telomerase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Cajal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Cajal body IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    box H/ACA telomerase RNP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    box H/ACA telomerase RNP complex TAS
    Traceable Author Statement
    more info
    PubMed 
    colocalizes_with chromosome, telomeric region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomerase catalytic core complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomerase catalytic core complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomerase holoenzyme complex IC
    Inferred by Curator
    more info
    PubMed 
    telomerase holoenzyme complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    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_016363.1 RefSeqGene

      Range
      5001..5451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_347

    RNA

    1. NR_001566.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      U85256
      Related
      ENST00000363312.1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      169764610..169765060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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