TTBK2

TTBK2
Identifiers
Aliases	TTBK2, SCA11, TTBK, tau tubulin kinase 2
External IDs	OMIM: 611695 MGI: 2155779 HomoloGene: 62795 GeneCards: TTBK2
Gene location (Human) Chr. Chromosome 15 (human) Band 15q15.2 Start 42,738,730 bp End 42,920,809 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 E5 Start 120,563,297 bp End 120,681,085 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 pons parietal lobe postcentral gyrus cerebellar vermis sperm superior vestibular nucleus superior frontal gyrus secondary oocyte middle temporal gyrus Top expressed in spermatid spermatocyte facial motor nucleus anterior horn of spinal cord superior cervical ganglion supraoptic nucleus trigeminal ganglion medial vestibular nucleus pontine nuclei cerebellar cortex 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
Wikidata
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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.

Further reading

• Edener, U.; Kurth, I.; Meiner, A.; Hoffmann, F.; Hübner, C. A.; Bernard, V.; Gillessen-Kaesbach, G.; Zühlke, C. (2009). "Missense exchanges in the TTBK2 gene mutated in SCA11". Journal of Neurology. 256 (11): 1856–1859. doi:10.1007/s00415-009-5209-0. PMID 19533200. S2CID 10343192.
• Dgany, O.; Avidan, N.; Delaunay, J.; Krasnov, T.; Shalmon, L.; Shalev, H.; Eidelitz-Markus, T.; Kapelushnik, J.; Cattan, D.; Pariente, A.; Tulliez, M.; Crétien, A.; Schischmanoff, P. O.; Iolascon, A.; Fibach, E.; Koren, A.; Rössler, J.; Le Merrer, M.; Yaniv, I.; Zaizov, R.; Ben-Asher, E.; Olender, T.; Lancet, D.; Beckmann, J. S.; Tamary, H. (2002). "Congenital Dyserythropoietic Anemia Type I is Caused by Mutations in Codanin-1". The American Journal of Human Genetics. 71 (6): 1467–1474. doi:10.1086/344781. PMC 378595. PMID 12434312.
• Worth, P. F.; Giunti, P.; Gardner-Thorpe, C.; Dixon, P. H.; Davis, M. B.; Wood, N. W. (1999). "Autosomal Dominant Cerebellar Ataxia Type III: Linkage in a Large British Family to a 7.6-cM Region on Chromosome 15q14-21.3". The American Journal of Human Genetics. 65 (2): 420–426. doi:10.1086/302495. PMC 1377940. PMID 10417284.
• Kitano-Takahashi, M.; Morita, H.; Kondo, S.; Tomizawa, K.; Kato, R.; Tanio, M.; Shirota, Y.; Takahashi, H.; Sugio, S.; Kohno, T. (2007). "Expression, purification and crystallization of a human tau-tubulin kinase 2 that phosphorylates tau protein". Acta Crystallographica Section F. 63 (7): 602–604. doi:10.1107/S1744309107028783. PMC 2335129. PMID 17620722.
• Xu, Q.; Li, X.; Wang, J.; Yi, J.; Lei, L.; Shen, L.; Jiang, H.; Xia, K.; Pan, Q.; Tang, B. (2009). "Spinocerebellar ataxia type 11 in the Chinese Han population". Neurological Sciences. 31 (1): 107–109. doi:10.1007/s10072-009-0129-4. PMID 19768375. S2CID 972027.
• Houlden, H.; Johnson, J.; Gardner-Thorpe, C.; Lashley, T.; Hernandez, D.; Worth, P.; Singleton, A. B.; Hilton, D. A.; Holton, J.; Revesz, T.; Davis, M. B.; Giunti, P.; Wood, N. W. (2007). "Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11". Nature Genetics. 39 (12): 1434–1436. doi:10.1038/ng.2007.43. PMID 18037885. S2CID 20774216.
• Houlden, H.; Pagon, R. A.; Bird, T. D.; Dolan, C. R.; Stephens, K.; Adam, M. P. (1993). "Spinocerebellar Ataxia Type 11". PMID 20301723. {{cite journal}}: Cite journal requires |journal= (help)
• Brusco, A.; Gellera, C.; Cagnoli, C.; Saluto, A.; Castucci, A.; Michielotto, C.; Fetoni, V.; Mariotti, C.; Migone, N.; Di Donato, S.; Taroni, F. (2004). "Molecular Genetics of Hereditary Spinocerebellar Ataxia: Mutation Analysis of Spinocerebellar Ataxia Genes and CAG/CTG Repeat Expansion Detection in 225 Italian Families". Archives of Neurology. 61 (5): 727–733. doi:10.1001/archneur.61.5.727. PMID 15148151.
• Crockett, D. K.; Fillmore, G. C.; Elenitoba-Johnson, K. S. J.; Lim, M. S. (2005). "Analysis of phosphatase and tensin homolog tumor suppressor interacting proteins by in vitro and in silico proteomics". Proteomics. 5 (5): 1250–1262. doi:10.1002/pmic.200401046. PMID 15717329. S2CID 45130615.

External links

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