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
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000128881 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000090100 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Tau tubulin kinase 2". Retrieved 2012-06-11.
6. Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, et al. (December 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.

Further reading

• Edener U, Kurth I, Meiner A, Hoffmann F, Hübner CA, Bernard V, et al. (November 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, et al. (December 2002). "Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1". American Journal of Human Genetics. 71 (6): 1467–1474. doi:10.1086/344781. PMC 378595. PMID 12434312.
• Worth PF, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW (August 1999). "Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3". 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, et al. (July 2007). "Expression, purification and crystallization of a human tau-tubulin kinase 2 that phosphorylates tau protein". Acta Crystallographica. Section F, Structural Biology and Crystallization Communications. 63 (Pt 7): 602–604. doi:10.1107/S1744309107028783. PMC 2335129. PMID 17620722.
• Xu Q, Li X, Wang J, Yi J, Lei L, Shen L, et al. (February 2010). "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, et al. (December 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.
• Chen Z, Puzriakova A, Houlden H (October 2019) [July 2008]. "Spinocerebellar Ataxia Type 11". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds.). GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle. PMID 20301723.
• Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, et al. (May 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 DK, Fillmore GC, Elenitoba-Johnson KS, Lim MS (April 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