Aliases for TELO2 Gene
External Ids for TELO2 Gene
Previous GeneCards Identifiers for TELO2 Gene
This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]
GeneCards Summary for TELO2 Gene
TELO2 (Telomere Maintenance 2) is a Protein Coding gene. Diseases associated with TELO2 include You-Hoover-Fong Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii. Among its related pathways are Fanconi anemia pathway and mTOR signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include binding and protein-containing complex scaffold activity.
UniProtKB/Swiss-Prot Summary for TELO2 Gene
Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate cell growth and survival in response to nutrient and hormonal signals. May be involved in telomere length regulation.