U.S. flag

An official website of the United States government

GTR Home > Genes

TERT telomerase reverse transcriptase

Gene ID: 7015, updated on 10-Apr-2024
Gene type: protein coding
Also known as: TP2; TRT; CMM9; EST2; TCS1; hTRT; DKCA2; DKCB4; hEST2; PFBMFT1

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

DescriptionTests
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 leukemiaSee labs
Aplastic anemia
MedGen: C0002874OMIM: 609135GeneReviews: Not available
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 1See labs
Dyskeratosis congenita, autosomal dominant 2See 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 2See 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
MedGen: C3554574OMIM: 615134GeneReviews: Not available
See labs
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1See 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

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.