Entity Details

Primary name TTBK2
Entity type gene
Source Source Link

Details

PrimaryID146057
RefseqGeneNG_012664
SymbolTTBK2
Nametau tubulin kinase 2
Chromosome15
Location15q15.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTTBK2_HUMAN

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0005524 ATP binding
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005814 centriole
GO:0005829 cytosol
GO:0007026 negative regulation of microtubule depolymerization
GO:0007224 smoothened signaling pathway
GO:0018105 peptidyl-serine phosphorylation
GO:0019894 kinesin binding
GO:0021549 cerebellum development
GO:0021681 cerebellar granular layer development
GO:0021935 cerebellar granule cell precursor tangential migration
GO:0030334 regulation of cell migration
GO:0035869 ciliary transition zone
GO:0036064 ciliary basal body
GO:0048156 tau protein binding
GO:0050321 tau-protein kinase activity
GO:0051010 microtubule plus-end binding
GO:0060271 cilium assembly
GO:0097711 ciliary basal body-plasma membrane docking
GO:0106310 protein serine kinase activity
GO:0106311 protein threonine kinase activity
GO:1902817 negative regulation of protein localization to microtubule
GO:1904527 negative regulation of microtubule binding

Diseases

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Disease IDSourceNameDescription
604432 OMIMSpinocerebellar 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. The disease is caused by variants affecting the gene represented in this entry.