TTBK2

Tau tubulin kinase 2 is a protein in humans that is encoded by the TTBK2 gene.^[5] 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.^[6]

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)[1] Band 15q15.2 Start 42,738,730 bp[1] End 42,920,809 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 E5 Start 120,563,297 bp[2] End 120,681,085 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 146057 140810 Ensembl ENSG00000128881 ENSMUSG00000090100 UniProt Q6IQ55 Q3UVR3 RefSeq (mRNA) NM_173500 NM_001024856 NM_001024857 NM_080788 RefSeq (protein) NP_775771 NP_001020027 NP_001020028 NP_542966 Location (UCSC) Chr 15: 42.74 – 42.92 Mb Chr 2: 120.56 – 120.68 Mb PubMed search [3] [4]
Wikidata
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