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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 Biomarker group BEFREE Here, we review the scope of tau and TDP-43 phosphorylation in neurodegenerative disease and discuss recent work demonstrating the kinases TTBK1 and TTBK2 phosphorylate both tau and TDP-43, promoting neurodegeneration. 31034749 2019
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.010 Biomarker group 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: 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: 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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE TTBK2 circular RNA promotes glioma malignancy by regulating miR-217/HNF1β/Derlin-1 pathway. 28219405 2017
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: 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
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: C1378703
Disease: Renal carcinoma
Renal carcinoma 		0.010 AlteredExpression disease BEFREE PRKX, TTBK2 and RSK4 expression causes Sunitinib resistance in kidney carcinoma- and melanoma-cell lines. 22020623 2012
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: 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: 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: 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: 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: C0037952
Disease: Spinocerebellar Degeneration
Spinocerebellar Degeneration 		0.010 Biomarker group LHGDN These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration. 18037885 2007
CUI: C1866751
Disease: Spinocerebellar tract degeneration
Spinocerebellar tract degeneration 		0.010 Biomarker disease BEFREE These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration. 18037885 2007
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: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO