TTBK2

Protein-coding gene in the species Homo sapiens
TTBK2
Identifiers
AliasesTTBK2, SCA11, TTBK, tau tubulin kinase 2
External IDsOMIM: 611695; MGI: 2155779; HomoloGene: 62795; GeneCards: TTBK2; OMA:TTBK2 - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for TTBK2
Genomic location for TTBK2
Band15q15.2Start42,738,730 bp[1]
End42,920,809 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for TTBK2
Genomic location for TTBK2
Band2|2 E5Start120,563,297 bp[2]
End120,681,085 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 2: 120.56 – 120.68 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000128881 – Ensembl, May 2017
  2. ^ a b c 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, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW (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, 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.
  • GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 11


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