| Gene Information | |
|---|---|
| Gene Name | EST2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1132 |
| Protein Names | Telomerase reverse transcriptase (EC 2.7.7.49) (HEST2) (Telomerase catalytic subunit) (Telomerase-associated protein 2) (TP2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O14746 |
| Gene Card | TERT |
| Uniprot ID | O14746 |
| Pfam | PF00078; PF12009 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed at a high level in thymocyte subpopulations, at an intermediate level in tonsil T-lymphocytes, and at a low to undetectable level in peripheral blood T-lymphocytes. {ECO:0000269|PubMed:8676067, ECO:0000269|PubMed:9389643}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2BCK (X-ray 2.80A ) 4B18 (X-ray 2.52A ) 4MNQ (X-ray 2.74A ) 5MEN (X-ray 2.81A ) 5MEO (X-ray 1.77A ) 5MEP (X-ray 2.71A ) 5MEQ (X-ray 2.27A ) 5MER (X-ray 1.88A ) 5UGW (X-ray 2.31A ) 7BG9 (EM 3.80A ) 7QXA (EM 3.20A ) 7QXB (EM 3.91A ) 7QXS (EM 3.91A ) 7TRD (EM 3.30A ) 7TRE (EM 3.50A ) 7TRF (EM 3.70A ) 7V99 (EM 3.54A ) |
| DBSNP | rs387907247 rs544215765 rs387907248 rs121918661 rs61748181 rs756624928 rs777343359 rs34094720 rs1751108994 rs199422294 rs199422295 rs121918662 rs199422297 rs387907249 rs199422299 rs149566858 rs121918663 rs483352771 rs141425941 rs199422301 rs121918666 rs201159197 rs199422304 rs121918665 rs387907250 rs387907251 rs34062885 rs199422305 rs35719940 rs121918664 rs199422306 rs1176273130 |
| Subcellular location [CC] | Nucleus, nucleolus {ECO:0000269|PubMed:22226966}. Nucleus, nucleoplasm. Nucleus. Chromosome, telomere. Cytoplasm. Nucleus, PML body. Note=Shuttling between nuclear and cytoplasm depends on cell cycle, phosphorylation states, transformation and DNA damage. Diffuse localization in the nucleoplasm. Enriched in nucleoli of certain cell types. Translocated to the cytoplasm via nuclear pores in a CRM1/RAN-dependent manner involving oxidative stress-mediated phosphorylation at Tyr-707. Dephosphorylation at this site by SHP2 retains TERT in the nucleus. Translocated to the nucleus by phosphorylation by AKT. |
| Mouse PG classification | NA |
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