Gene
tert
- ID
- ZDB-GENE-080405-1
- Name
- telomerase reverse transcriptase
- Symbol
- tert Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Exhibits telomerase activity. Involved in several processes, including erythrocyte maturation; intestinal epithelial structure maintenance; and telomere maintenance via telomerase. Localizes to nucleus. Is expressed in several structures, including eye; heart; integument; liver; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in several diseases, including autosomal dominant dyskeratosis congenita 2; familial melanoma; hepatocellular carcinoma; idiopathic pulmonary fibrosis; and leukemia (multiple). Orthologous to human TERT (telomerase reverse transcriptase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 30 figures from 9 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| acute myeloid leukemia | Alliance | {Leukemia, acute myeloid} | 601626 |
| autosomal dominant dyskeratosis congenita 2 | Alliance | Dyskeratosis congenita, autosomal dominant 2 | 613989 |
| autosomal dominant dyskeratosis congenita 2 | Alliance | Dyskeratosis congenita, autosomal recessive 4 | 613989 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 | 614742 | ||
| {Melanoma, cutaneous malignant, 9} | 615134 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000477 | Reverse transcriptase domain |
| Domain | IPR021891 | Telomerase ribonucleoprotein complex - RNA-binding domain |
| Domain | IPR049139 | Telomerase reverse transcriptase, C-terminal extension |
| Family | IPR003545 | Telomerase reverse transcriptase |
| Homologous_superfamily | IPR043502 | DNA/RNA polymerase superfamily |
Domain Details Per Protein
| Protein | Length | DNA/RNA polymerase superfamily | Reverse transcriptase domain | Telomerase reverse transcriptase | Telomerase reverse transcriptase, C-terminal extension | Telomerase ribonucleoprotein complex - RNA-binding domain |
|---|---|---|---|---|---|---|
|
UniProtKB:A2THE9
|
1098 |
Interactions and Pathways
No data available
Plasmids
No data available