TTBK2, tau tubulin kinase 2, 146057

N. diseases: 46; N. variants: 4
Disease: SPINOCEREBELLAR ATAXIA 11 ×
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 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 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 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: 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 CausalMutation disease CLINVAR Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. 18037885 2007
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 Biomarker disease GENOMICS_ENGLAND
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		0.660 Biomarker disease CTD_human
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		0.660 Biomarker disease GENOMICS_ENGLAND
CUI: C1858351
Disease: SPINOCEREBELLAR ATAXIA 11
SPINOCEREBELLAR ATAXIA 11 		0.660 Biomarker disease GENOMICS_ENGLAND