Gene: TTBK2

Alternate names for this Gene: SCA11|TTBK

Gene Summary: 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q15.2

Description of this Gene: tau tubulin kinase 2

Type of Gene: protein-coding

rs113177981 in TTBK2 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs149492745 in TTBK2 gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs80356538 in TTBK2 gene and SPINOCEREBELLAR ATAXIA 11 PMID 18037885 2007 Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

rs149492745 in TTBK2 gene and Triglycerides measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.