TERC Chromosome 3
Telomerase RNA component
Upload your DNA to see your personal genotypes for variants in TERC.
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, and an RNA component, encoded by this gene, that 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. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Long non-coding RNAs with non-systematic symbols|Telomerase holoenzyme subunits"
Locus Type
RNA, long non-coding
Location
3q26.2
Ensembl
ENSG00000270141
Associated Conditions (10)
Dyskeratosis congenita
autosomal dominant 1
Pulmonary fibrosis and/or bone marrow failure
Telomere-related
2
Telomere syndrome
Pulmonary fibrosis
Aplastic anemia
TERC-related disorder
Interstitial lung disease 2
Key Variants
RS1288561509
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita
Health Risk
RS1415168771
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita
Health Risk
RS1553915610
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita
Health Risk
RS1777963668
Conflicting classifications of pathogenicity
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Health Risk
RS199422272
Conflicting classifications of pathogenicity
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Health Risk
RS199422276
Conflicting classifications of pathogenicity
Aplastic anemia, Dyskeratosis congenita, autosomal dominant 1
Health Risk
RS1553915577
Likely pathogenic
Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita
Health Risk
RS1553915590
Likely pathogenic
Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita
Health Risk
RS1553915591
Likely pathogenic
Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita
Health Risk
RS1751472744
Likely pathogenic
Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita
Health Risk
RS1751515079
Likely pathogenic
Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita
Health Risk
RS1751515631
Likely pathogenic
Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1288561509 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS1415168771 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS1553915610 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS1777963668 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |
| RS199422272 | Health Risk | Conflicting classifications of pathogenicity | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |
| RS199422276 | Health Risk | Conflicting classifications of pathogenicity | Aplastic anemia, Dyskeratosis congenita, autosomal dominant 1 |
| RS1553915577 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS1553915590 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS1553915591 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS1751472744 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS1751515079 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS1751515631 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS2108183267 | Health Risk | Likely pathogenic | TERC-related disorder, TERC-related disorder |
| RS2108183554 | Health Risk | Likely pathogenic | — |
| RS2474262453 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS886039437 | Health Risk | Likely pathogenic | — |
| RS1032106566 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS2108182735 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS2108182738 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS2474262070 | Health Risk | Likely risk allele | Pulmonary fibrosis, Pulmonary fibrosis |
| RS1553915517 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS1553915612 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |
| RS1553915621 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |
| RS1777959964 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |
| RS1777964165 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS199422255 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS199422263 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS199422264 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS199422265 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |
| RS199422266 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS199422267 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS199422268 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |
| RS199422270 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |
| RS199422274 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 1, Pulmonary fibrosis and/or bone marrow failure |
| RS199422277 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |
| RS199422283 | Health Risk | Pathogenic | Aplastic anemia, Aplastic anemia |
| RS199422284 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS199476393 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal dominant 1, Dyskeratosis congenita |
| RS2108183105 | Health Risk | Pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |
| RS886039656 | Health Risk | Pathogenic | — |
| RS1553915580 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |
| RS1553915617 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 |