TTBK2 gene

tau tubulin kinase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Spinocerebellar ataxia 11

From UniProt:

Spinocerebellar ataxia 11 (SCA11): Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late-onset, slowly progressive neurologic disorder. [MIM:604432]

Cytogenetic Location: 15q15.2, which is the long (q) arm of chromosome 15 at position 15.2

Molecular Location: base pairs 42,738,974 to 42,920,995 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q15.2, which is the long (q) arm of chromosome 15 at position 15.2
  • SCA11
  • TTBK