TTBK2

Tau tubulin kinase 2
Identifiers
Symbols	TTBK2 ; SCA11; TTBK
External IDs	OMIM: 611695 HomoloGene: 62795 GeneCards: TTBK2 Gene
EC number	2.7.11.1
Gene ontology Molecular function • protein serine/threonine kinase activity • protein binding • ATP binding Cellular component • extracellular space • nucleus • cytoplasm • centriole • cytosol • ciliary transition zone • ciliary basal body Biological process • organelle organization • smoothened signaling pathway • regulation of cell shape • peptidyl-serine phosphorylation • cilium assembly Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	146057	140810
Ensembl	ENSG00000128881	ENSMUSG00000090100
UniProt	Q6IQ55	Q3UVR3
RefSeq (mRNA)	NM_173500	NM_001024856
RefSeq (protein)	NP_775771	NP_001020027
Location (UCSC)	Chr 15: 42.74 – 42.92 Mb	Chr 2: 120.73 – 120.85 Mb
PubMed search	[1]	[2]

Tau tubulin kinase 2 is a protein in humans that is encoded by the TTBK2 gene. This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem.

External links

• GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 11