Biomarker: TERT

Biomarker subtype: mRNA

Clinical application: diagnosis

Histology type: endometrial carcinoma

Country: Japan

Region: Hiroshima

Cohort age: 57; 27-77

Sample type : tissue

Clinical method: RT-PCR

Expression pattern : expression

Statictics: Mean ;Range

Cohort age: 57; 27-77

Description: The detection and quantitative analysis of telomerase activity and TERT expression is helpful for distinguishing malignant from normal endometrium when the patient is postmenopausal, even if the tumor is very small or of low malignancy.

Approved symbol: TERT

Approved name: telomerase reverse transcriptase

Locus type: gene with protein product

HGNC ID: HGNC:11730

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11730

Symbol status: Approved

Alias symbols: TRT TP2 TCS1 hEST2 EST2

OMIM: 187270

Omim link: https://www.omim.org/entry/187270

NCBI name: 7015

NCBI link: https://www.ncbi.nlm.nih.gov/gene/7015

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]

Expression: Low expression observed in reference dataset

NCBI gene expression https://www.ncbi.nlm.nih.gov/gene/7015

PDB ID: O14746

PDB link: https://www.ebi.ac.uk/pdbe/entry/search/index/?searchParams=%7B%22q_uniprot%22:%5B%7B%22value%22:%22(O14746)%22,%22condition1%22:%22AND%22,%22condition2%22:%22Contains%22%7D%5D,%22resultState%22:%7B%22tabIndex%22:0,%22paginationIndex%22:1,%22perPage%22:%2210%22,%22sortBy%22:%22Sort%20by%22%7D%7D

MF term ID: GO:0003968 | GO:0098680 |GO:0003721

MF term name: RNA-directed 5'-3' RNA polymerase activity | template-free RNA nucleotidyltransferase| telomerase RNA reverse transcriptase activity

BP term ID: GO:0001172 | GO:0062103| GO:1903618| GO:1903620| GO:1903704

BP term name: transcription, RNA-templated | double-stranded RNA biosynthetic process| regulation of transdifferentiation | positive regulation of transdifferentiation| negative regulation of production of siRNA involved in post-transcriptional gene silencing by RNA

CC term ID: GO:1990572 | GO:0000333| GO:0031379

CC term name: TERT-RMRP complex | telomerase catalytic core complex| RNA-directed RNA polymerase complex