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TERC telomerase RNA component [ Homo sapiens (human) ]

Gene ID: 7012, updated on 23-Nov-2021

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]
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Genomic context

See TERC in Genome Data Viewer
Location:
3q26.2
Exon count:
1
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (169764610..169765060, complement)
105.20201022 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 tRNA-Val (anticodon AAC) 1-1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk.
GeneReviews: Not available
Common variants near TERC are associated with mean telomere length.
GeneReviews: Not available
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
GeneReviews: Not available
Dyskeratosis congenita, autosomal dominant 1
MedGen: C4551974 OMIM: 127550 GeneReviews: Dyskeratosis Congenita
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Genome-wide association study identifies multiple loci associated with bladder cancer risk.
GeneReviews: Not available
Genome-wide association study of relative telomere length.
GeneReviews: Not available
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
GeneReviews: Not available
Identification of seven loci affecting mean telomere length and their association with disease.
GeneReviews: Not available
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2
MedGen: C3553622 OMIM: 614743 GeneReviews: Not available
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Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
GeneReviews: Not available

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

Component Evidence Code Pubs
located_in Cajal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in Cajal body IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of box H/ACA telomerase RNP complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of 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 
located_in cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of telomerase catalytic core complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of telomerase catalytic core complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of telomerase holoenzyme complex IC
Inferred by Curator
more info
PubMed 
part_of telomerase holoenzyme complex IPI
Inferred from Physical Interaction
more info
PubMed 

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_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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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