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TTBK2

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TTBK2
Identifiers
AliasesTTBK2, SCA11, TTBK, tau tubulin kinase 2
External IDsOMIM: 611695; MGI: 2155779; HomoloGene: 62795; GeneCards: TTBK2; OMA:TTBK2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: ENSG00000128881Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000090100Ensembl, 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.

Further reading