| AgACC | Ag003552 |
| Date | 19-08-2008 |
| Last updated | 14-12-2016 |
| Antigen Name | TERT |
| Common Name | hTERT |
| Full Name | Telomerase reverse transcriptase |
| Synonym | Telomerase catalytic subunit; Telomerase-associated protein 2; EC 2.7.7.49; EST2; HEST2; TCS1; TP2; TRT; TERT; hEST2; hTERT
another display format
- Telomerase catalytic subunit
- Telomerase-associated protein 2
- EC 2.7.7.49
- EST2
- HEST2
- TCS1
- TP2
- TRT
- TERT
- hEST2
- hTERT
|
| UniProt ID | O14746
|
| NCBI Gene ID | 7015 |
| GeneCard ID | GC05M001253 |
| SwissProt VARIANT ID | VAR_036869 |
| Comment | Autosomal dominant dyskeratosis congenita (DKC) - Defects in TERT are a cause of autosomal dominant dyskeratosis congenita. DKC is a disease characterized by the early manifestation of reticulate skin pigmentation, nail dystrophy, and mucosal leukoplakia. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality |
| Annotation | This is a fragment sequence. |
| Isoforms | Ag000134, Ag000135, Ag000136, Ag001828, Ag001829
Alignment of all Isoforms |
| Mutation entries | Ag000563, Ag003546, Ag003547, Ag003548, Ag003549, Ag003550, Ag003551, Ag003552, Ag003553, Ag003554
View mutation map |
| RNA/protein expression profile | RNA and protein Expression profile |
| Predicted HLA binders | |
| Reference sequence | TFLRTLVRGVPEYGCVVNLRKTVVNFPVEDEALGGTAFVQM |
| Antigen sequence | TFLRTLVRGVPEYGCVVNLRNTVVNFPVEDEALGGTAFVQM |