Aliases for TTBK2 Gene
External Ids for TTBK2 Gene
Previous HGNC Symbols for TTBK2 Gene
Previous GeneCards Identifiers for TTBK2 Gene
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]
GeneCards Summary for TTBK2 Gene
TTBK2 (Tau Tubulin Kinase 2) is a Protein Coding gene. Diseases associated with TTBK2 include Spinocerebellar Ataxia 11 and Encephalopathy, Familial, With Neuroserpin Inclusion Bodies. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TTBK1.
UniProtKB/Swiss-Prot for TTBK2 Gene
Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the recruitment of IFT proteins, which build the ciliary axoneme. Has some substrate preference for proteins that are already phosphorylated on a Tyr residue at the +2 position relative to the phosphorylation site. Able to phosphorylate tau on serines in vitro.