{"entity":{"id":"tert","kind":"target","name":"TERT","aka":["telomerase reverse transcriptase","Telomerase reverse transcriptase","TP2","TCS1","hEST2","EST2"],"tldr":"TERT (Telomerase reverse transcriptase) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Myeloproliferative neoplasms, Leukaemia, Lung cancer and 5 more.","summary":"Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells.\n\nCIViC holds 18 clinical evidence items and 0 assertions across 8 variants, naming UO126, Larotrectinib and Iodine I-131. Open Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes genetic literature 0.91, clinical 0.50, affected pathway 0.61, literature 1.00, genetic association 0.86, somatic mutation 0.90, animal model 0.27). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Papillary Renal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11730","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11730"},{"label":"UniProt O14746","url":"https://www.uniprot.org/uniprotkb/O14746/entry"},{"label":"NCBI Gene 7015","url":"https://www.ncbi.nlm.nih.gov/gene/7015"},{"label":"Ensembl ENSG00000164362","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164362"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","lung-cancer","skin-cancer","breast-cancer","urothelial","ovarian","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["hepatocellular-carcinoma-signalling","telomere-maintenance"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.82; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 18 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Brain Glioma; Papillary Thyroid Carcinoma; Acral Lentiginous Melanoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TERT","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11730","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11730","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14746","url":"https://www.uniprot.org/uniprotkb/O14746/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TERT","url":"https://civicdb.org/features/79","note":"18 evidence items, 0 assertions, 8 variants; diseases: Glioblastoma, Thyroid Cancer, Brain Glioma, Papillary Thyroid Carcinoma, Clear Cell Renal Cell Carcinoma and 5 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000164362","url":"https://platform.opentargets.org/target/ENSG00000164362/associations","note":"association with cancer (MONDO_0004992) 0.86; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, colorectal cancer 0.61, gastric cancer 0.51, hepatocellular carcinoma 0.60, prostate cancer 0.61, urinary bladder cancer 0.64 (GraphQL API, CC0)"},{"label":"IntOGen TERT","url":"https://www.intogen.org/search?gene=TERT","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TERT: RNA not detected; no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lung cancer (all types), Skin cancer (all types), Breast cancer (all types), Bladder & urothelial cancer, Ovarian cancer and more); Open Targets associates it with 22 specific cancer types at or above 0.5 (dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita, acute myeloid leukemia, autosomal recessive dyskeratosis congenita 4, melanoma, cutaneous malignant, susceptibility to, 9, urinary bladder cancer and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O14746","url":"https://www.uniprot.org/uniprotkb/O14746/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TERT","url":"https://civicdb.org/features/79","note":"18 evidence items, 0 assertions, 8 variants; diseases: Glioblastoma, Thyroid Cancer, Brain Glioma, Papillary Thyroid Carcinoma, Clear Cell Renal Cell Carcinoma and 5 more (GraphQL API, CC0)"},{"label":"IntOGen TERT","url":"https://www.intogen.org/search?gene=TERT","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas TERT tissue","url":"https://www.proteinatlas.org/ENSG00000164362-TERT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000164362 associations","url":"https://platform.opentargets.org/target/ENSG00000164362/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11730","ensembl":"ENSG00000164362","uniprot":"O14746","entrez":"7015","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Meyerson et al, Cell, 1997, \"hEST2, the putative human telomerase catalytic subunit gene, is up-regulated in tumor cells and during immortalization\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9288757/","biology":"Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyses the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer extension and release of product once the template boundary has been reached or nascent product translocation followed by further extension. Location: Nucleus, nucleolus; Nucleus, nucleoplasm; Nucleus; Chromosome, telomere (UniProt). Locus 5p15.33 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.75 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.75 with leukaemia (MONDO_0005059)","Lung cancer: Open Targets association 0.68 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.66 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.66 with breast cancer (MONDO_0007254)","Bladder & urothelial cancer: Open Targets association 0.64 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/tert/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}],"pathway":[{"id":"hepatocellular-carcinoma-signalling","kind":"pathway","name":"Hepatocellular carcinoma (KEGG map)","route":"/pathways/hepatocellular-carcinoma-signalling/"},{"id":"telomere-maintenance","kind":"pathway","name":"Telomere maintenance & replicative immortality","route":"/pathways/telomere-maintenance/"}]}}