TTBK2
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. [provided by RefSeq, Aug 2009].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:611695 Ensembl IDEnsembl:ENSG00000128881 HGNC IDHGNC:HGNC:19141 PHARMGKB IDPA134913925 Map Location15q15.2 | |||||
GO terms in TTBK2
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0004672 | protein kinase activity |
| MF | IBA | GO:0004674 | protein serine/threonine kinase activity |
| MF | IDA | GO:0004674 | protein serine/threonine kinase activity |
| MF | NAS | GO:0004674 | protein serine/threonine kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
Gene expression in normal tissue: TTBK2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TTBK2
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
| reactome | R-HSA-5617833 | Cilium Assembly |
| reactome | R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
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Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TTBK2
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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