TTBK2

TTBK2
Identifiers
Aliases	TTBK2, SCA11, TTBK, tau tubulin kinase 2
External IDs	OMIM: 611695; MGI: 2155779; HomoloGene: 62795; GeneCards: TTBK2; OMA:TTBK2 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	42,920,809 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	120,681,085 bp
RNA expression pattern
	Top expressed in
	lateral nuclear group of thalamus; ; Brodmann area 23; ; Pons; ; parietal lobe; ; postcentral gyrus; ; cerebellar vermis; ; pars compacta; ; sperm; ; superior vestibular nucleus; ; primary visual cortex;
	Top expressed in
	spermatid; ; spermatocyte; ; facial motor nucleus; ; anterior horn of spinal cord; ; superior cervical ganglion; ; central gray substance of midbrain; ; supraoptic nucleus; ; deep cerebellar nuclei; ; trigeminal ganglion; ; medial vestibular nucleus;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; nucleotide binding; protein kinase activity; kinase activity; protein serine/threonine kinase activity; protein binding; ATP binding; kinesin binding; tau protein binding; tau-protein kinase activity; microtubule plus-end binding;
Cellular component	cytoplasm; ciliary basal body; cytosol; cell projection; cilium; ciliary transition zone; centriole; cytoskeleton; nucleus; extracellular space;
Biological process	phosphorylation; protein phosphorylation; cell projection organization; peptidyl-serine phosphorylation; smoothened signaling pathway; regulation of cell shape; cilium assembly; ciliary basal body-plasma membrane docking; microtubule cytoskeleton organization; negative regulation of microtubule depolymerization; peptidyl-threonine phosphorylation; cerebellum development; cerebellar granular layer development; cerebellar granule cell precursor tangential migration; regulation of cell migration; negative regulation of protein localization to microtubule; negative regulation of microtubule binding;
	Sources:Amigo / QuickGO
Orthologs
	146057
	140810
	ENSG00000128881
	ENSMUSG00000090100
	Q6IQ55
	Q3UVR3
	NM_173500
	NM_001024856; NM_001024857; NM_080788
	NP_775771
	NP_001020027; NP_001020028; NP_542966
	Wikidata
View/Edit Human	View/Edit Mouse

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.