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    TTBK2 tau tubulin kinase 2 [ Homo sapiens (human) ]

    Gene ID: 146057, updated on 19-Sep-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.

    A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
    Lu YQ, Chen JM, Huang YL, Zou ZY.

    07/8/2024
    Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.

    Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
    Felício D, Santos M., Free PMC Article

    03/20/2024
    Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis.

    Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis.
    Bashore FM, Marquez AB, Chaikuad A, Howell S, Dunn AS, Beltran AA, Smith JL, Drewry DH, Beltran AS, Axtman AD., Free PMC Article

    04/19/2023
    Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.

    Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.
    Rosa E Silva I, Binó L, Johnson CM, Rutherford TJ, Neuhaus D, Andreeva A, Čajánek L, van Breugel M., Free PMC Article

    03/26/2022
    A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.

    A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.
    Loukil A, Barrington C, Goetz SC., Free PMC Article

    12/11/2021
    Circular RNA TTBK2 regulates cell proliferation, invasion and ferroptosis via miR-761/ITGB8 axis in glioma.

    Circular RNA TTBK2 regulates cell proliferation, invasion and ferroptosis via miR-761/ITGB8 axis in glioma.
    Zhang HY, Zhang BW, Zhang ZB, Deng QJ.

    03/20/2021
    Phosphorylation of multiple proteins involved in ciliogenesis by Tau Tubulin kinase 2.

    Phosphorylation of multiple proteins involved in ciliogenesis by Tau Tubulin kinase 2.
    Bernatik O, Pejskova P, Vyslouzil D, Hanakova K, Zdrahal Z, Cajanek L., Free PMC Article

    02/6/2021
    Circular RNA TTBK2 promotes the development of human glioma cells via miR-520b/EZH2 axis.

    Circular RNA TTBK2 promotes the development of human glioma cells via miR-520b/EZH2 axis.
    Yuan DH, Zhao J, Shao GF.

    12/19/2020
    The TTBK2-dependent CEP83 phosphorylation is important for early ciliogenesis steps, including ciliary vesicle docking and CP110 removal.

    Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation.
    Lo CH, Lin IH, Yang TT, Huang YC, Tanos BE, Chou PC, Chang CW, Tsay YG, Liao JC, Wang WJ., Free PMC Article

    05/16/2020
    Spinocerebellar ataxia type 11 (SCA11)-associated mutations are dominant negative alleles and the resulting truncated protein (TTBK2SCA11) interferes with the function of full length TTBK2 in mediating ciliogenesis.

    Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.
    Bowie E, Norris R, Anderson KV, Goetz SC., Free PMC Article

    03/9/2019
    Our findings suggest a possible etiology for the two most common frontotemporal lobar degeneration subtypes through a TTBK1/2 activation driven mechanism of neurodegeneration

    Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration.
    Taylor LM, McMillan PJ, Liachko NF, Strovas TJ, Ghetti B, Bird TD, Keene CD, Kraemer BC., Free PMC Article

    11/10/2018
    Enhanced expression of circ-TTBK2 promoted cell proliferation, migration, and invasion, while inhibited apoptosis in glioma cells.

    TTBK2 circular RNA promotes glioma malignancy by regulating miR-217/HNF1β/Derlin-1 pathway.
    Zheng J, Liu X, Xue Y, Gong W, Ma J, Xi Z, Que Z, Liu Y., Free PMC Article

    12/16/2017
    TTBK2 down-regulates GluK2 activity by decreasing the receptor protein abundance in the cell membrane via RAB5-dependent endocytosis.

    Tau Tubulin Kinase TTBK2 Sensitivity of Glutamate Receptor GluK2.
    Nieding K, Matschke V, Meuth SG, Lang F, Seebohm G, Strutz-Seebohm N.

    02/4/2017
    TTBK1/2 kinases may represent attractive targets for therapeutic intervention for TDP-43 proteinopathies such as Amyotrophic lateral sclerosis and Frontotemporal lobar degeneration-TDP.

    The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43.
    Liachko NF, McMillan PJ, Strovas TJ, Loomis E, Greenup L, Murrell JR, Ghetti B, Raskind MA, Montine TJ, Bird TD, Leverenz JB, Kraemer BC., Free PMC Article

    01/30/2016
    TTBK2 is a multifunctional kinase involved in important cellular processes and demands augmented efforts in investigating its functions

    TTBK2: a tau protein kinase beyond tau phosphorylation.
    Liao JC, Yang TT, Weng RR, Kuo CT, Chang CW., Free PMC Article

    01/2/2016
    TTBK2 phosphorylates KIF2A and antagonizes KIF2A-induced depolymerization at microtubules plus ends for cell migration.

    TTBK2 with EB1/3 regulates microtubule dynamics in migrating cells through KIF2A phosphorylation.
    Watanabe T, Kakeno M, Matsui T, Sugiyama I, Arimura N, Matsuzawa K, Shirahige A, Ishidate F, Nishioka T, Taya S, Hoshino M, Kaibuchi K., Free PMC Article

    12/19/2015
    TTBK2 bound EB1 and Cep164 through its SxIP motifs and a proline-rich motif, respectively.

    Binding to Cep164, but not EB1, is essential for centriolar localization of TTBK2 and its function in ciliogenesis.
    Oda T, Chiba S, Nagai T, Mizuno K.

    05/30/2015
    data suggest that TTBK2 also acts upstream of Cep164, contributing to the assembly of distal appendages

    Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.
    Čajánek L, Nigg EA., Free PMC Article

    09/20/2014
    Dominant truncating mutations in human TTBK2 cause spinocerebellar ataxia type 11 (SCA11); these mutant proteins do not promote ciliogenesis and inhibit ciliogenesis in wild-type cells.

    The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.
    Goetz SC, Liem KF Jr, Anderson KV., Free PMC Article

    01/26/2013
    TTBK2 is a completely novel regulator of Na(+)-coupled glucose transport.

    Upregulation of Na-coupled glucose transporter SGLT1 by Tau tubulin kinase 2.
    Alesutan I, Sopjani M, Dërmaku-Sopjani M, Munoz C, Voelkl J, Lang F.

    11/24/2012
    findings reveals a major role of PRKX, TTBK2 and RSK4 in triggering Sunitinib resistance formation; data suggest transcriptional regulation of these kinases together with other proteins might play an important role in formation of Sunitinib resistance by affecting transcription factors

    PRKX, TTBK2 and RSK4 expression causes Sunitinib resistance in kidney carcinoma- and melanoma-cell lines.
    Bender C, Ullrich A.

    11/24/2012
    two-basepair deletion (c.1306_1307delGA, p.D435fs448X in exon 12) lead to a premature stop codon in the TTBK2 gene; spinocerebellar ataxia patients had phenotypic of slowly progressive almost pure cerebellar ataxia with normal life expectancy

    Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
    Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-Hübsch T, Wüllner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Schöls L, Brice A.

    12/11/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Examination the TTBK2 gene in 68 unrelated spinocerebellar ataxia patients displayed the normal elution profile, which denoted that no disease-related mutation was identified. We provided the evidence that SCA11 is a rare form of ataxia in China.

    Spinocerebellar ataxia type 11 in the Chinese Han population.
    Xu Q, Li X, Wang J, Yi J, Lei L, Shen L, Jiang H, Xia K, Pan Q, Tang B.

    04/19/2010
    that SCA11 is an extremely rare cause for dominantly inherited ataxias (TTBK2) in the German population.

    Missense exchanges in the TTBK2 gene mutated in SCA11.
    Edener U, Kurth I, Meiner A, Hoffmann F, Hübner CA, Bernard V, Gillessen-Kaesbach G, Zühlke C.

    01/21/2010
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