TTBK2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TTBK2 |
| Official Name | tau tubulin kinase 2 [Source:HGNC Symbol;Acc:HGNC:19141] |
| Ensembl ID | ENSG00000128881 |
| Bio databases IDs | |
| Aliases | tau tubulin kinase 2 |
| Synonyms | 2610507N02RIK, AI326283, B930008N24Rik, KIAA0847, mKIAA0847, SCA11, tau tubulin kinase 2, TTBK, Ttbk1, TTK |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TTBK2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Serine/Threonine protein kinases, catalytic domain
- Tau-protein kinase
- protein serine/threonine kinase
- protein threonine/tyrosine kinase
- Protein kinase (unclassified specificity)
- protein kinase
- Protein Kinases, catalytic domain
- microtubule plus-end binding
- protein binding
- Protein kinase domain
- kinesin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- spinocerebellar ataxia 11
role in cell
- quantity
- phosphorylation in
- migration
- survival
- binding
- assembly
- shrinkage
- organization
- ciliogenesis in
- depolymerization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microtubule cytoskeleton
- ciliary transition zone
- cilia
- Nucleus
- basal bodies
- centriole
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TTBK2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cerebellar granular layer development
- cilium morphogenesis
- signal transduction
- cerebellum development
- cerebellar granule cell precursor tangential migration
- smoothened signaling pathway
- negative regulation of microtubule depolymerization
- microtubule cytoskeleton organization
- peptidyl-serine phosphorylation
- regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- cytoplasm
- cilium basal body
- centriole
- cytosol
- ciliary transition zone
Molecular Function
What the gene product does at the molecular level
- tau-protein kinase activity
- ATP binding
- protein binding
- tau protein binding
- microtubule plus-end binding
- kinesin binding
- protein kinase activity
- protein serine/threonine kinase activity