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Gene

TERT

telomerase reverse transcriptase

Summary

Cytogenetic location
5p15.33
Coordinates
Chromosome 5: 1,253,167–1,295,068 (GRCh38)
Exons
16 exons across 41.9 kb
Protein
1,132 amino acids
Also known as
TRT, TP2, TCS1, hEST2, EST2
MANE Select transcript
ENST00000310581.10NM_198253.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Dyskeratosis Congenita

    • Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
    • Telomere syndromes

      Disorders of short telomeres caused by variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN, which can cause bone marrow failure, lung fibrosis and liver disease even without classic skin signs.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Monitoring of blood counts, lungs and liver is advised, and the diagnosis informs donor selection and treatment choices for stem cell transplantation.

  • Familial Pulmonary Fibrosis

    • Telomere-related Pulmonary Fibrosis and/or Bone Marrow Failure

      Variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN can cause progressive pulmonary fibrosis in adulthood, sometimes together with bone marrow failure or liver disease.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing can prompt earlier lung monitoring and treatment, screening for blood and liver involvement, care with immunosuppressive drugs around transplant, and careful selection of related donors.

How TERT is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where TERT sits. TERT and 11 genes near it on chromosome 5, from 774,118 to 1,774,117.Chromosome 55p15.33p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.30.8 Mb1 Mb1.2 Mb1.4 Mb1.6 MbZDHHC11B: 710,355–784,729, reverse strandZDHHC11BZDHHC11: 795,605–858,973, reverse strandZDHHC11BRD9: 850,291–892,838, reverse strandBRD9TRIP13: 892,849–919,357, forward strandTRIP13NKD2: 1,008,021–1,040,630, forward strandNKD2SLC12A7: 1,050,384–1,156,237, reverse strandSLC12A7SLC6A19: 1,201,595–1,225,111, forward strandSLC6A19SLC6A18: 1,225,381–1,246,189, forward strandSLC6A18TERT: 1,253,167–1,295,068, reverse strandTERTCLPTM1L: 1,316,821–1,345,100, reverse strandCLPTM1LSLC6A3: 1,392,794–1,445,514, reverse strandSLC6A3LPCAT1: 1,456,480–1,524,282, reverse strandLPCAT1Diagram of TERT: 16 exons on the reverse strand of chromosome 5Exon 16: 1 known disease-causing siteExon 15: 3 known disease-causing sitesExon 14: 4 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 4: 7 known disease-causing sitesExon 3: 9 known disease-causing sitesExon 2: 54 known disease-causing sitesExon 1: 10 known disease-causing sitesExon 16: 1,253,167–1,253,831, 665 basesExon 15: 1,254,368–1,254,505, 138 basesExon 14: 1,255,287–1,255,411, 125 basesExon 13: 1,258,598–1,258,659, 62 basesExon 12: 1,260,474–1,260,600, 127 basesExon 11: 1,264,404–1,264,592, 189 basesExon 10: 1,266,464–1,266,535, 72 basesExon 9: 1,268,520–1,268,633, 114 basesExon 8: 1,271,119–1,271,204, 86 basesExon 7: 1,272,185–1,272,280, 96 basesExon 6: 1,278,641–1,278,796, 156 basesExon 5: 1,279,291–1,279,470, 180 basesExon 4: 1,280,158–1,280,338, 181 basesExon 3: 1,282,429–1,282,624, 196 basesExon 2: 1,293,313–1,294,666, 1,354 basesExon 1: 1,294,771–1,295,068, 298 bases16141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4 kb of the gene's 41.9 kb; 3,399 of those bases code for the protein.

How a genome test reads TERT

167

positions in TERT where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 41.9 kb of TERT, introns included, not only the 4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). TERT gene: telomerase reverse transcriptase. Retrieved 17 October 2026, from https://dantelabs.com/genes/tert

Vancouver

Dante Labs. TERT gene: telomerase reverse transcriptase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tert

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