TERT Chromosome 5
Telomerase reverse transcriptase
Upload your DNA to see your personal genotypes for variants in TERT.
What This Gene Does
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]
Gene Info
Gene Group
Telomerase holoenzyme subunits
Locus Type
gene with protein product
Location
5p15.33
Ensembl
ENSG00000164362
Associated Conditions (67)
Dyskeratosis congenita
autosomal dominant 2
Idiopathic Pulmonary Fibrosis
TERT-related disorder
Pulmonary fibrosis
Pulmonary fibrosis and/or bone marrow failure
Telomere-related
1
Aplastic anemia
Hoyeraal-Hreidarsson syndrome
Autosomal recessive dyskeratosis congenita 4
Telomere syndrome
Acute myeloid leukemia
7 conditions
Melanoma
cutaneous malignant
susceptibility to
Malignant tumor of urinary bladder
Neoplasm
Sertoli-Leydig cell tumor
+47 more conditions
Key Variants
RS1006357203
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis
Health Risk
RS1013341756
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis
Health Risk
RS1026167666
Conflicting classifications of pathogenicity
Pulmonary fibrosis, Dyskeratosis congenita, autosomal dominant 2
Health Risk
RS1030156757
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis
Health Risk
RS1033402019
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 2, Pulmonary fibrosis and/or bone marrow failure
Health Risk
RS1060502999
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis
Health Risk
RS1060503011
Conflicting classifications of pathogenicity
Hoyeraal-Hreidarsson syndrome, Autosomal recessive dyskeratosis congenita 4, Pulmonary fibrosis
Health Risk
RS112614087
Conflicting classifications of pathogenicity
Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2
Health Risk
RS1164823749
Conflicting classifications of pathogenicity
Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2
Health Risk
RS1169312254
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis
Health Risk
RS1170942980
Conflicting classifications of pathogenicity
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Health Risk
RS1189644919
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis
Health Risk
All Variants (389)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1579598699 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
| RS1748618030 | Health Risk | Likely pathogenic | — |
| RS1749003568 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
| RS1749089374 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS1749098222 | Health Risk | Likely pathogenic | — |
| RS1749780301 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS1749799292 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
| RS1749840545 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS1750106866 | Health Risk | Likely pathogenic | Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2 |
| RS1751253944 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS1751259223 | Health Risk | Likely pathogenic | Abnormal pulmonary interstitial morphology, Short telomere length, Abnormal pulmonary interstitial morphology |
| RS1751262771 | Health Risk | Likely pathogenic | Pulmonary fibrosis, Dyskeratosis congenita, autosomal dominant 2 |
| RS199422298 | Health Risk | Likely pathogenic | Aplastic anemia, Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita |
| RS2126562296 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS2126584187 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS2126691326 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 2, Dyskeratosis congenita |
| RS2478106403 | Health Risk | Likely pathogenic | Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2 |
| RS2478128940 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS2478154164 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
| RS2478165471 | Health Risk | Likely pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS2478180846 | Health Risk | Likely pathogenic | Pulmonary fibrosis, Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS2478199968 | Health Risk | Likely pathogenic | Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2 |
| RS2478277661 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 2, Dyskeratosis congenita |
| RS2478306957 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
| RS2478407432 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS745590324 | Health Risk | Likely pathogenic | Dyskeratosis congenita, Dyskeratosis congenita |
| RS770144114 | Health Risk | Likely pathogenic | Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2 |
| RS797046041 | Health Risk | Likely pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS866575708 | Health Risk | Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
| RS867069017 | Health Risk | Likely pathogenic | — |
| RS886039438 | Health Risk | Likely pathogenic | Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2 |
| RS1338921187 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS1403852124 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS1554041299 | Health Risk | Likely risk allele | Dyskeratosis congenita, autosomal dominant 1, Pulmonary fibrosis |
| RS1747569912 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS1748158034 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS1749852602 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS199422289 | Health Risk | Likely risk allele | Interstitial lung disease 2, Pulmonary fibrosis, Interstitial lung disease 2 |
| RS2478073438 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS2478165841 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS2478427484 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS2478428691 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS1156940293 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS1191885727 | Health Risk | Pathogenic | Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita, autosomal dominant 2 |
| RS121918665 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 2, autosomal dominant 1 |
| RS1270172263 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS1322987070 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS1554038257 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |
| RS1554040964 | Health Risk | Pathogenic | Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS1554041095 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 2, Idiopathic Pulmonary Fibrosis |