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
- Enables telomerase activity. Acts upstream of or within several processes, including erythrocyte maturation; intestinal epithelial structure maintenance; and telomere maintenance via telomerase. Located in nucleus. Predicted to be part of telomerase catalytic core complex. 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
- 12 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 28 figures from 7 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, telomere-related, 1 | 614742 | ||
{Melanoma, cutaneous malignant, 9} | 615134 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | DNA/RNA polymerase superfamily | Reverse transcriptase domain | Telomerase reverse transcriptase | Telomerase ribonucleoprotein complex - RNA-binding domain |
---|---|---|---|---|---|
UniProtKB:B6ZLJ8
|
1098 | ||||
UniProtKB:B3DIZ2
|
1098 | ||||
UniProtKB:B4XPB6
|
1091 | ||||
UniProtKB:F8W2L0
|
57 | ||||
UniProtKB:F1QE52
|
1098 | ||||
UniProtKB:F8W2Z1
|
160 | ||||
UniProtKB:A2THE9
|
1098 |
Interactions and Pathways
No data available
Plasmids
No data available