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{{protein
{{Infobox_gene}}
|name=tau tubulin kinase 2
 
|caption=
'''Tau tubulin kinase 2''' is a [[protein]] in humans that is encoded by the TTBK2 [[gene]].
|image=
<ref name="entrez">
|width=
{{cite web
|HGNCid=19141
| title = Entrez Gene: Tau tubulin kinase 2
|Symbol=TTBK2
| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=146057
|AltSymbols=SCA11
| accessdate = 2012-06-11 <!-- T01:10:48.081924-08:00 -->
|EntrezGene=146057
}}</ref>
|OMIM=611695
This gene encodes a serine-threonine [[kinase]] that putatively phosphorylates [[tau protein|tau]] and [[tubulin]] proteins. [[Mutation]]s in this gene cause [[spinocerebellar ataxia]] type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem.<ref name="pmid 18037885">{{cite journal |vauthors=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 | title = Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11 | journal = Nature Genetics | volume = 39 | issue = 12 | pages = 1434–1436 |date=December 2007 | pmid = 18037885 | doi = 10.1038/ng.2007.43 | url = }}</ref>
|RefSeq=NM_173500
 
|UniProt=
== References ==
|PDB=
 
|ECnumber=
{{reflist}}
|Chromosome=15
 
|Arm=q
==External links==
|Band=15.2
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca11  GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 11]
|LocusSupplementaryData=
 
}}
== Further reading ==
{{SI}}


{{refbegin | 2}}


'''TTBK2''' is a gene associated with [[spinocerebellar ataxia]].
*{{Cite journal
| last1 = Edener | first1 = U.
| last2 = Kurth | first2 = I.
| last3 = Meiner | first3 = A.
| last4 = Hoffmann | first4 = F.
| last5 = Hübner | first5 = C. A.
| last6 = Bernard | first6 = V.
| last7 = Gillessen-Kaesbach | first7 = G.
| last8 = Zühlke | first8 = C.
| doi = 10.1007/s00415-009-5209-0
| title = Missense exchanges in the TTBK2 gene mutated in SCA11
| journal = Journal of Neurology
| volume = 256
| issue = 11
| pages = 1856–1859
| year = 2009
| pmid = 19533200
| pmc =
}}
*{{Cite journal
| last1 = Dgany | first1 = O.
| last2 = Avidan | first2 = N.
| last3 = Delaunay | first3 = J.
| last4 = Krasnov | first4 = T.
| last5 = Shalmon | first5 = L.
| last6 = Shalev | first6 = H.
| last7 = Eidelitz-Markus | first7 = T.
| last8 = Kapelushnik | first8 = J.
| last9 = Cattan | first9 = D.
| last10 = Pariente
| doi = 10.1086/344781 | first10 = A.
| last11 = Tulliez | first11 = M.
| last12 = Crétien | first12 = A.
| last13 = Schischmanoff | first13 = P. O.
| last14 = Iolascon | first14 = A.
| last15 = Fibach | first15 = E.
| last16 = Koren | first16 = A.
| last17 = Rössler | first17 = J.
| last18 = Le Merrer | first18 = M.
| last19 = Yaniv | first19 = I.
| last20 = Zaizov | first20 = R.
| last21 = Ben-Asher | first21 = E.
| last22 = Olender | first22 = T.
| last23 = Lancet | first23 = D.
| last24 = Beckmann | first24 = J. S.
| last25 = Tamary | first25 = H.
| title = Congenital Dyserythropoietic Anemia Type I is Caused by Mutations in Codanin-1
| journal = The American Journal of Human Genetics
| volume = 71
| issue = 6
| pages = 1467–1474
| year = 2002
| pmid = 12434312
| pmc =378595
}}
*{{Cite journal
| last1 = Worth | first1 = P. F.
| last2 = Giunti | first2 = P.
| last3 = Gardner-Thorpe | first3 = C.
| last4 = Dixon | first4 = P. H.
| last5 = Davis | first5 = M. B.
| last6 = Wood | first6 = N. W.
| doi = 10.1086/302495
| title = Autosomal Dominant Cerebellar Ataxia Type III: Linkage in a Large British Family to a 7.6-cM Region on Chromosome 15q14-21.3
| journal = The American Journal of Human Genetics
| volume = 65
| issue = 2
| pages = 420–426
| year = 1999
| pmid = 10417284
| pmc =1377940
}}
*{{Cite journal
| last1 = Kitano-Takahashi | first1 = M.
| last2 = Morita | first2 = H.
| last3 = Kondo | first3 = S.
| last4 = Tomizawa | first4 = K.
| last5 = Kato | first5 = R.
| last6 = Tanio | first6 = M.
| last7 = Shirota | first7 = Y.
| last8 = Takahashi | first8 = H.
| last9 = Sugio | first9 = S.
| doi = 10.1107/S1744309107028783
| last10 = Kohno | first10 = T.
| title = Expression, purification and crystallization of a human tau-tubulin kinase 2 that phosphorylates tau protein
| journal = Acta Crystallographica Section F
| volume = 63
| issue = 7
| pages = 602–604
| year = 2007
| pmid = 17620722
| pmc =2335129
}}
*{{Cite journal
| last1 = Xu | first1 = Q.
| last2 = Li | first2 = X.
| last3 = Wang | first3 = J.
| last4 = Yi | first4 = J.
| last5 = Lei | first5 = L.
| last6 = Shen | first6 = L.
| last7 = Jiang | first7 = H.
| last8 = Xia | first8 = K.
| last9 = Pan | first9 = Q.
| doi = 10.1007/s10072-009-0129-4
| last10 = Tang | first10 = B.
| title = Spinocerebellar ataxia type 11 in the Chinese Han population
| journal = Neurological Sciences
| volume = 31
| issue = 1
| pages = 107–109
| year = 2009
| pmid = 19768375
| pmc =
}}
*{{Cite journal
| last1 = Houlden | first1 = H.
| last2 = Johnson | first2 = J.
| last3 = Gardner-Thorpe | first3 = C.
| last4 = Lashley | first4 = T.
| last5 = Hernandez | first5 = D.
| last6 = Worth | first6 = P.
| last7 = Singleton | first7 = A. B.
| last8 = Hilton | first8 = D. A.
| last9 = Holton | first9 = J.
| doi = 10.1038/ng.2007.43
| last10 = Revesz | first10 = T.
| last11 = Davis | first11 = M. B.
| last12 = Giunti | first12 = P.
| last13 = Wood | first13 = N. W.
| title = Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11
| journal = Nature Genetics
| volume = 39
| issue = 12
| pages = 1434–1436
| year = 2007
| pmid = 18037885
| pmc =
}}
*{{Cite journal
| last1 = Houlden | first1 = H.
| last2 = Pagon | first2 = R. A.
| last3 = Bird | first3 = T. D.
| last4 = Dolan | first4 = C. R.
| last5 = Stephens | first5 = K.
| last6 = Adam | first6 = M. P.
| title = Spinocerebellar Ataxia Type 11
| year = 1993
| pmid = 20301723
}}
*{{Cite journal
| last1 = Brusco | first1 = A.
| last2 = Gellera | first2 = C.
| last3 = Cagnoli | first3 = C.
| last4 = Saluto | first4 = A.
| last5 = Castucci | first5 = A.
| last6 = Michielotto | first6 = C.
| last7 = Fetoni | first7 = V.
| last8 = Mariotti | first8 = C.
| last9 = Migone | first9 = N.
| last10 = Di Donato | first10 = S.
| last11 = Taroni | first11 = F.
| year = 2004
| title = Molecular Genetics of Hereditary Spinocerebellar Ataxia: Mutation Analysis of Spinocerebellar Ataxia Genes and CAG/CTG Repeat Expansion Detection in 225 Italian Families
| journal = Archives of Neurology
| volume = 61 | issue = 5 | pages = 727–733
| doi = 10.1001/archneur.61.5.727
| pmid = 15148151
| pmc =
}}
*{{Cite journal
| last1 = Crockett | first1 = D. K.
| last2 = Fillmore | first2 = G. C.
| last3 = Elenitoba-Johnson | first3 = K. S. J.
| last4 = Lim | first4 = M. S.
| title = Analysis of phosphatase and tensin homolog tumor suppressor interacting proteins byin vitro andin silico proteomics
| doi = 10.1002/pmic.200401046
| journal = Proteomics
| volume = 5
| issue = 5
| pages = 1250–1262
| year = 2005
| pmid = 15717329
| pmc =
}}


{{refend}}




{{WH}}
{{gene-15-stub}}

Latest revision as of 12:24, 15 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Tau tubulin kinase 2 is a protein in humans that is encoded by the TTBK2 gene. [1] 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.[2]

References

  1. ↑ "Entrez Gene: Tau tubulin kinase 2". Retrieved 2012-06-11.
  2. ↑ 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.

External links

Further reading


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