TTBK2

Chr 15q15.2

tau tubulin kinase 2

Aliases:: KIAA0847
MANE:: ENST00000267890.11

OMIM: 611695 ↗NCBI: 146057 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TTBK2 · Q6IQ55

v62025-08-01

Predicted Aligned Error matrix for TTBK2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

48.8/ 100

Very low

1,244 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)1%
Low(50–70)1%
Very low(< 50)75%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy
Hereditary neuropathy or pain disorder
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

spinocerebellar ataxia type 11
0.72
neurodegenerative disease
0.39
response to xenobiotic stimulus
0.27
tooth disorder
0.26
poisoning
0.20
response to antibiotic
0.20
hereditary disease
0.19
alcohol drinking
0.19
stroke disorder
0.19
hereditary ataxia
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tau-tubulin kinase 2

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 (PubMed:23141541). Phosphorylates MPHOSPH9 which promotes its ubiquitination and proteasomal degradation, loss of MPHOSPH9 facilitates the removal of the CP110-CEP97 complex (a negative regulator of ciliogenesis) from the mother centrioles, promoting the initiation of ciliogenesis (PubMed:30375385). Required for recruitment of CPLANE2 and INTU to the mother centriole (By similarity)