TTBK2

Chr 15AD

tau tubulin kinase 2

Also known as: SCA11, TTBK

NCBI Gene: 146057 ENSG00000128881 UniProt: Q6IQ55 OMIM: 611695

This serine/threonine kinase regulates ciliogenesis by controlling the initiation of primary cilia formation and phosphorylates tau protein. Mutations cause spinocerebellar ataxia 11, a progressive neurodegenerative disorder characterized by ataxia and cerebellar-brainstem atrophy, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-truncating mutations.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Aug 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spinocerebellar ataxia 11MIM #604432

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.26

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

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GeneReview available — TTBK2