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    TELO2 telomere maintenance 2 [ Homo sapiens (human) ]

    Gene ID: 9894, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.

    TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
    Albokhari D, Pritchard AB, Beil A, Muss C, Bupp C, Grange DK, Delplancq G, Heeley J, Zuteck M, Morrow MM, Kuentz P, Palculict TB, Hoover-Fong JE.

    04/12/2023
    Structure of the Human TELO2-TTI1-TTI2 Complex.

    Structure of the Human TELO2-TTI1-TTI2 Complex.
    Kim Y, Park J, Joo SY, Kim BG, Jo A, Lee H, Cho Y.

    02/5/2022
    TELO2 induced progression of colorectal cancer by binding with RICTOR through mTORC2.

    TELO2 induced progression of colorectal cancer by binding with RICTOR through mTORC2.
    Guo Z, Zhang X, Zhu H, Zhong N, Luo X, Zhang Y, Tu F, Zhong J, Wang X, He J, Huang L., Free PMC Article

    11/22/2021
    Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.

    Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.
    Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, García-Cazorla À, Juliá-Palacios N, Morales-Ballús M.

    06/26/2021
    Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.

    Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.
    Ciaccio C, Duga V, Pantaleoni C, Esposito S, Moroni I, Pinelli M, Castello R, Nigro V, Chiapparini L, D'Arrigo S, TUDP Study Group.

    06/12/2021
    Taken together, human high-grade gliomas increase TELO2 mRNA expression, and overexpression of TELO2 mRNA expression correlates with shorter survival outcome, supporting that TELO2 is an oncotarget in human gliomas.

    Overexpression of TELO2 decreases survival in human high-grade gliomas.
    Feng SW, Chen Y, Tsai WC, Chiou HC, Wu ST, Huang LC, Lin C, Hsieh CC, Yang YJ, Hueng DY., Free PMC Article

    01/13/2018
    TELO2 missense variants result in loss of function, perturb TTT complex stability, and cause an autosomal-recessive syndromic form of Intellectual Disability Disorder.

    A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
    You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MBP, Valle D, Armanios M, Hoover-Fong J., Free PMC Article

    05/20/2017
    IP7, formed by IP6K2, binds CK2 to enhance its phosphorylation of the Tti1/Tel2 complex, thereby stabilizing DNA-PKcs and ATM. This process stimulates p53 phosphorylation at serine 15 to activate the cell death program.

    Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2.
    Rao F, Cha J, Xu J, Xu R, Vandiver MS, Tyagi R, Tokhunts R, Koldobskiy MA, Fu C, Barrow R, Wu M, Fiedler D, Barrow JC, Snyder SH., Free PMC Article

    05/31/2014
    The SAM domain of human TEL2 can inhibit the transcriptional activities of ETS1/2 and TEL1.

    The SAM domain of human TEL2 can abrogate transcriptional output from TEL1 (ETV-6) and ETS1/ETS2.
    Vivekanand P, Rebay I., Free PMC Article

    01/12/2013
    Data show that that knockdown of either Tti1 or Tel2 causes disassembly of mTORC1 and mTORC2.

    Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.
    Kaizuka T, Hara T, Oshiro N, Kikkawa U, Yonezawa K, Takehana K, Iemura S, Natsume T, Mizushima N., Free PMC Article

    01/26/2011
    The CK2 phospho-dependent interaction between TEL2 and the R2TP complex affects phosphatidylinositol 3-kinase-related kinase functions and is essential for mTOR and SMG1 stability in vivo.

    CK2 phospho-dependent binding of R2TP complex to TEL2 is essential for mTOR and SMG1 stability.
    Horejsí Z, Takai H, Adelman CA, Collis SJ, Flynn H, Maslen S, Skehel JM, de Lange T, Boulton SJ.

    01/26/2011
    TTI1 and TTI2 exist in multiple complexes, including a 2-MDa complex with TEL2 (telomere maintenance 2), called the Triple T complex, and phosphoinositide-3-kinase-related protein kinases (PIKKs) such as ataxia telangiectasia-mutated (ATM).

    A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.
    Hurov KE, Cotta-Ramusino C, Elledge SJ., Free PMC Article

    09/20/2010
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