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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TTBK2
tau tubulin kinase 2
Chromosome 15 Β· 15q15.2
NCBI Gene: 146057Ensembl: ENSG00000128881.19HGNC: HGNC:19141UniProt: Q6IQ55
64PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein serine/threonine kinase activitykinesin bindingGO:0005615regulation of cell migrationspinocerebellar ataxia type 11neurodegenerative diseaseresponse to xenobiotic stimulustooth disease
✦AI Summary

TTBK2 (tau tubulin kinase 2) is a serine/threonine kinase with dual roles in ciliogenesis and neuronal pathology. Functionally, TTBK2 serves as a critical regulator of cilia initiation by localizing to the distal appendages of the mother centriole through interaction with CEP164 1. This interaction occurs via phase separation and facilitates TTBK2's primary function: promoting CCP110 removal and recruiting IFT proteins necessary for ciliary axoneme assembly 1. TTBK2 restrains the microtubule-depolymerizer KIF2A through phosphorylation, supporting cilia elongation and maintenance 2. Mechanistically, TTBK2 phosphorylates multiple substrates including tau, tubulin, CEP164, CEP97, and TDP-43 3. Notably, TTBK2 phosphorylates MPHOSPH9, promoting its degradation and facilitating CP110-CEP97 complex removal 3. Disease-wise, TTBK2 mutations cause spinocerebellar ataxia type 11 (SCA11), an autosomal dominant cerebellar ataxia 4. SCA11-associated truncations impair both ciliogenesis and TTBK2 kinase function against neuronal targets like tau and TDP-43, potentially driving neurodegeneration 4. Additionally, TTBK2 phosphorylates pathological TDP-43, relevant to amyotrophic lateral sclerosis and frontotemporal dementia 5. Clinically, TTBK2 represents a therapeutic target for both cerebellar ataxias and neurodegenerative proteinopathies 6.

Sources cited
1
TTBK2 phase-separates with CEP164 at distal appendages to initiate ciliogenesis
PMID: 40483689
2
TTBK2 phosphorylates and restrains KIF2A to support cilia elongation
PMID: 39930500
3
TTBK2 phosphorylates tau, tubulin, CEP164, CEP97, and TDP-43 substrates
PMID: 25950000
4
TTBK2 mutations cause spinocerebellar ataxia type 11 with cerebellar neurodegeneration
PMID: 36892783
5
TTBK2 is a putative kinase phosphorylating TDP-43 in ALS and FTD pathology
PMID: 40340943
6
TTBK2 inhibition reduces primary cilia formation in human iPSCs
PMID: 37059819
7
TTBK2 phosphorylates tau and TDP-43, contributing to neurodegeneration
PMID: 31034749
Disease Associationsβ“˜21
spinocerebellar ataxia type 11Open Targets
0.73Strong
neurodegenerative diseaseOpen Targets
0.39Weak
response to xenobiotic stimulusOpen Targets
0.27Weak
tooth diseaseOpen Targets
0.26Weak
poisoningOpen Targets
0.24Weak
response to antibioticOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
autosomal dominant cerebellar ataxiaOpen Targets
0.13Weak
hereditary ataxiaOpen Targets
0.12Weak
gliomaOpen Targets
0.10Suggestive
aortic stenosisOpen Targets
0.09Suggestive
Pick diseaseOpen Targets
0.07Suggestive
Syndactyly type 2Open Targets
0.07Suggestive
syndactyly type 4Open Targets
0.06Suggestive
polydactyly of a triphalangeal thumbOpen Targets
0.06Suggestive
Triphalangeal thumb - polysyndactyly syndromeOpen Targets
0.06Suggestive
brachydactyly type COpen Targets
0.06Suggestive
synpolydactyly type 1Open Targets
0.06Suggestive
PolysyndactylyOpen Targets
0.05Suggestive
polysyndactyly 4Open Targets
0.05Suggestive
Spinocerebellar ataxia 11UniProt
Pathogenic Variants10
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)Pathogenic
Spinocerebellar ataxia type 11|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 444
NM_173500.4(TTBK2):c.1229_1230insACCA (p.Ala411fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 411
NM_173500.4(TTBK2):c.1675del (p.Gln559fs)Likely pathogenic
Spinocerebellar ataxia type 11
β˜…β˜†β˜†β˜†2022β†’ Residue 559
NM_173500.4(TTBK2):c.2983del (p.Leu995fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 995
NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr)Likely pathogenic
Spinocerebellar ataxia type 11
β˜…β˜†β˜†β˜†2021β†’ Residue 80
NM_173500.4(TTBK2):c.1232dup (p.Asn412fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 412
NM_173500.4(TTBK2):c.2450C>G (p.Ser817Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 817
NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)Likely pathogenic
Spinocerebellar ataxia type 11
β˜†β˜†β˜†β˜†2021β†’ Residue 1156
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)Pathogenic
Spinocerebellar ataxia type 11
β˜†β˜†β˜†β˜†2019β†’ Residue 436
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs)Pathogenic
Spinocerebellar ataxia type 11
β˜†β˜†β˜†β˜†2007β†’ Residue 429
View on ClinVar β†—
Related Genes
CACNA1AProtein interaction84%ATXN7Protein interaction84%SPTBN2Protein interaction84%ATXN10Protein interaction84%ZWINTProtein interaction78%CEP164Protein interaction77%
Tissue Expression6 tissues
Brain
100%
Heart
69%
Bone Marrow
53%
Ovary
39%
Lung
27%
Liver
20%
Gene Interaction Network
Click a node to explore
TTBK2CACNA1AATXN7SPTBN2ATXN10ZWINTCEP164
PROTEIN STRUCTURE
Preparing viewer…
PDB6VRF Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.33Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.24 [0.17–0.33]
RankingsWhere TTBK2 stands among ~20K protein-coding genes
  • #7,326of 20,598
    Most Researched64
  • #2,865of 5,498
    Most Pathogenic Variants10
  • #1,346of 17,882
    Most Constrained (LOEUF)0.33 Β· top 10%
Genes detectedTTBK2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Tau-tubulin kinase.
PMID: 24808823
Front Mol Neurosci Β· 2014
1.00
2
Molecular mechanisms and consequences of TDP-43 phosphorylation in neurodegeneration.
PMID: 40340943
Mol Neurodegener Β· 2025
0.90
3
Phase separation of TTBK2 and CEP164 is necessary for ciliogenesis.
PMID: 40483689
Cell Rep Β· 2025
0.80
4
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
PMID: 36892783
Cerebellum Β· 2024
0.70
5
Tau-tubulin kinase 2 restrains microtubule-depolymerizer KIF2A to support primary cilia growth.
PMID: 39930500
Cell Commun Signal Β· 2025
0.60