TERC telomerase RNA component
Gene ID: 7012, updated on 22-Oct-2024Gene type: ncRNA
Also known as: TR; TER; hTR; TRC3; DKCA1; PFBMFT2; SCARNA19
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- Go to complete Gene record for TERC
- Go to Variation Viewer for TERC variants
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]
Associated conditions
See all available tests in GTR for this gene
| 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: C4551974OMIM: 127550GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders | See labs |
| 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 | See labs |
| Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. GeneReviews: Not available |
Genomic context
- Location:
- 3q26.2
- Sequence:
- Chromosome: 3; NC_000003.12 (169764610..169765060, complement)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TERC variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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