TTBK2, tau tubulin kinase 2, 146057

N. diseases: 46; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		0.660 GeneticVariation disease BEFREE In this work, we present evidence that SCA11-associated mutations are dominant negative alleles and that the resulting truncated protein (TTBK2SCA11) interferes with the function of full length TTBK2 in mediating ciliogenesis. 30532139 2018
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		0.660 GeneticVariation disease BEFREE A novel frameshift mutation (c.1205_1207delinsA) in the tau-tubulin kinase 2 encoding gene, TTBK2, was identified, which was compatible with a diagnosis of SCA11. 27165044 2017
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		0.660 GeneticVariation disease BEFREE Tau-tubulin kinase-2 (TTBK2) is genetically linked to spinocerebellar ataxia type 11, and its kinase activity is crucial for ciliogenesis. 31455668 2019
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		0.660 GeneticVariation disease BEFREE We identified mutations in the gene encoding tau tubulin kinase 2 (TTBK2) as the cause of spinocerebellar ataxia type 11. 18037885 2007
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		0.660 GeneticVariation disease BEFREE Recently, a large British pedigree linked to SCA11 has been reported to carry a mutation in the TTBK2 gene. 20667868 2010
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		0.660 GeneticVariation disease BEFREE 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. 23141541 2012
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.340 Biomarker disease BEFREE These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration. 18037885 2007
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.340 GeneticVariation disease BEFREE TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development. 21548880 2011
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.340 GeneticVariation disease BEFREE A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia. 27165044 2017
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.340 GeneticVariation disease BEFREE The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. 23141541 2012
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.110 Biomarker disease BEFREE Spinal cerebellar ataxia 11 (SCA11) is a rare disease, characterized by progressive cerebellar ataxia, abnormal eye sign. 31485862 2020
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease BEFREE The first SCA11-affected family in China was characterized by gait instability, movement disorders and dysarthria with obvious cerebellar atrophy. 31485862 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 Biomarker disease BEFREE We reveal that many hub genes and TFs including ttbk-2, daf-16, and unc-49 have human and mouse orthologues that are directly or potentially associated with AD and neural development. 31291334 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 Biomarker disease BEFREE Both TTBK1 and TTBK2 were initially identified as tau kinases and TTBK1 has been shown to phosphorylate tau epitopes commonly observed in Alzheimer's disease and other tauopathies. 29409526 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 Biomarker disease BEFREE Furthermore, protein levels of TTBK1 and TTBK2 are increased in frontal cortex of FTLD-TDP patients, and TTBK1 and TTBK2 co-localize with TDP-43 inclusions in ALS spinal cord. 25473830 2014
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 Biomarker phenotype BEFREE We provided the evidence that SCA11 is a rare form of ataxia in China. 19768375 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE TTBK2 circular RNA promotes glioma malignancy by regulating miR-217/HNF1β/Derlin-1 pathway. 28219405 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE PRKX, TTBK2 and RSK4 expression causes Sunitinib resistance in kidney carcinoma- and melanoma-cell lines. 22020623 2012
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 Biomarker phenotype BEFREE We provided the evidence that SCA11 is a rare form of ataxia in China. 19768375 2010
CUI: C0017638
Disease: Glioma
Glioma 		0.010 Biomarker disease BEFREE Stable knockdown of circ-TTBK2 or overexpression of miR-217 glioma cell lines (U87 and U251) were established to explore the function of circ-TTBK2 and miR-217 in glioma cells. 28219405 2017
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 GeneticVariation disease BEFREE Researchers have recently found that SCA type 11 (SCA11) is associated with mutations in the TTBK2 gene. 19768375 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.010 GeneticVariation group BEFREE Mutations that truncate the C-terminal non-catalytic moiety of TTBK2 (tau tubulin kinase 2) cause the inherited, autosomal dominant, SCA11 (spinocerebellar ataxia type 11) movement disorder. 21548880 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE Remarkably, circ-TTBK2 knockdown combined with miR-217 overexpression led to tumor regression in vivo. 28219405 2017
CUI: C0037952
Disease: Spinocerebellar Degeneration
Spinocerebellar Degeneration 		0.010 Biomarker group BEFREE These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration. 18037885 2007
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 AlteredExpression disease BEFREE Furthermore, protein levels of TTBK1 and TTBK2 are increased in frontal cortex of FTLD-TDP patients, and TTBK1 and TTBK2 co-localize with TDP-43 inclusions in ALS spinal cord. 25473830 2014