Disease-gene associations mined from literature

Literature associating TTBK2 and spinocerebellar ataxia type 30

TTBK2 [ENSP00000267890]

Tau tubulin kinase 2; 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.

Synonyms:  TTBK2,  TTBK2p,  hTTBK2,  H3BMY7,  H3BQ25 ...

Linkouts:  STRING  Pharos  UniProt  OMIM