TERT telomerase reverse transcriptase
Gene ID: 7015, updated on 10-Jun-2024Gene type: protein coding
Also known as: TP2; TRT; CMM9; EST2; TCS1; hTRT; DKCA2; DKCB4; hEST2; PFBMFT1
- See all available tests in GTR for this gene
- Go to complete Gene record for TERT
- Go to Variation Viewer for TERT 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, encoded by this gene, and an RNA component which 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. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. GeneReviews: Not available | |
| A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese. GeneReviews: Not available | |
| A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. GeneReviews: Not available | |
| A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. GeneReviews: Not available | |
| A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population. GeneReviews: Not available | |
| A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. GeneReviews: Not available | |
| A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. GeneReviews: Not available | |
| Acute myeloid leukemia | See labs |
| Aplastic anemia | See labs |
| Chromosome 7p11.2 (EGFR) variation influences glioma risk. GeneReviews: Not available | |
| Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk. GeneReviews: Not available | |
| Dyskeratosis congenita, autosomal dominant 1 MedGen: C4551974OMIM: 127550GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders | See labs |
| Dyskeratosis congenita, autosomal dominant 2 MedGen: C3151443OMIM: 613989GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders | See labs |
| Genetic correction of PSA values using sequence variants associated with PSA levels. GeneReviews: Not available | |
| Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia. GeneReviews: Not available | |
| Genome-wide association studies identify four ER negative-specific breast cancer risk loci. GeneReviews: Not available | |
| Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. GeneReviews: Not available | |
| Genome-wide association study identifies five susceptibility loci for glioma. GeneReviews: Not available | |
| Genome-wide association study identifies multiple loci associated with bladder cancer risk. GeneReviews: Not available | |
| Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. GeneReviews: Not available | |
| Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. GeneReviews: Not available | |
| Genome-wide association study identifies three new melanoma susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study of glioma and meta-analysis. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. GeneReviews: Not available | |
| Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. GeneReviews: Not available | |
| Interstitial lung disease 2 | See labs |
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. GeneReviews: Not available | |
| Lung cancer susceptibility locus at 5p15.33. GeneReviews: Not available | |
| Melanoma, cutaneous malignant, susceptibility to, 9 | See labs |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | See labs |
| Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. GeneReviews: Not available | |
| Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. GeneReviews: Not available | |
| The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia. GeneReviews: Not available | |
| Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. GeneReviews: Not available | |
| Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. GeneReviews: Not available | |
| Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations. GeneReviews: Not available |
Genomic context
- Location:
- 5p15.33
- Sequence:
- Chromosome: 5; NC_000005.10 (1253167..1295068, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TERT 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
- Telomerase Database
- TERT database
- Variation ViewerRelated Variants
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