TTBK2 (tau tubulin kinase 2)

2006-10-01  

Identity

HGNC
LOCATION
15q15.2
LOCUSID
ALIAS
SCA11,TTBK
FUSION GENES

Other Information

Locus ID:

NCBI: 146057
MIM: 611695
HGNC: 19141
Ensembl: ENSG00000128881

Variants:

dbSNP: 146057
ClinVar: 146057
TCGA: ENSG00000128881
COSMIC: TTBK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128881ENST00000267890Q6IQ55
ENSG00000128881ENST00000562880H3BTY5
ENSG00000128881ENST00000564431H3BQ25
ENSG00000128881ENST00000566931H3BMY7
ENSG00000128881ENST00000567274A0A0B4J292
ENSG00000128881ENST00000567840Q6IQ55
ENSG00000128881ENST00000622375Q8IWY7

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
231415412012The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.87
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
282194052017TTBK2 circular RNA promotes glioma malignancy by regulating miR-217/HNF1β/Derlin-1 pathway.61
180378852007Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.53
249821332014Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.41
254738302014The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43.27
220206232012PRKX, TTBK2 and RSK4 expression causes Sunitinib resistance in kidney carcinoma- and melanoma-cell lines.21
252976232014Binding to Cep164, but not EB1, is essential for centriolar localization of TTBK2 and its function in ciliogenesis.20
151481512004Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.19
263236902015TTBK2 with EB1/3 regulates microtubule dynamics in migrating cells through KIF2A phosphorylation.18

Citation

Dessen P

TTBK2 (tau tubulin kinase 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43548/ttbk2