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TTBK2 tau tubulin kinase 2 [ Homo sapiens (human) ]

Gene ID: 146057, updated on 2-Nov-2024

Summary

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Official Symbol
TTBK2provided by HGNC
Official Full Name
tau tubulin kinase 2provided by HGNC
Primary source
HGNC:HGNC:19141
See related
Ensembl:ENSG00000128881 MIM:611695; AllianceGenome:HGNC:19141
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TTBK; SCA11
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]
Expression
Broad expression in testis (RPKM 9.5), brain (RPKM 5.6) and 24 other tissues See more
Orthologs
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Genomic context

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See TTBK2 in Genome Data Viewer
Location:
15q15.2
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (42738730..42921000, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (40545862..40728127, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43030928..43212976, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene StAR related lipid transfer domain containing 9 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43022854-43023381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:43051195-43051957 Neighboring gene TTBK2 antisense RNA 1 Neighboring gene codanin 1 Neighboring gene Sharpr-MPRA regulatory region 5629 Neighboring gene keratin 8 pseudogene 50 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:43181679-43182551 Neighboring gene H3K27ac hESC enhancers GRCh37_chr15:43212294-43212794 and GRCh37_chr15:43212795-43213295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9308 Neighboring gene farnesyl diphosphate synthase pseudogene 4 Neighboring gene ubiquitin protein ligase E3 component n-recognin 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:43307016-43307895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6380 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:43368903-43369710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9309

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Expression, purification and crystallization of a human tau-tubulin kinase 2 that phosphorylates tau protein. Kitano-Takahashi M, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2007 Jul 1. PMID 17620722, Free PMC Article
  2. Upregulation of Na-coupled glucose transporter SGLT1 by Tau tubulin kinase 2. Alesutan I, et al. Cell Physiol Biochem, 2012. PMID 22814243
  3. Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms. Felício D, et al. Cerebellum, 2024 Apr. PMID 36892783, Free PMC Article
  4. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Houlden H, et al. Nat Genet, 2007 Dec. PMID 18037885
  5. TTBK2: a tau protein kinase beyond tau phosphorylation. Liao JC, et al. Biomed Res Int, 2015. PMID 25950000, Free PMC Article

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
    Title: A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
  2. Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
    Title: Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
  3. Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis.
    Title: Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis.
  4. Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.
    Title: Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.
  5. A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.
    Title: A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.
  6. Circular RNA TTBK2 regulates cell proliferation, invasion and ferroptosis via miR-761/ITGB8 axis in glioma.
    Title: Circular RNA TTBK2 regulates cell proliferation, invasion and ferroptosis via miR-761/ITGB8 axis in glioma.
  7. Phosphorylation of multiple proteins involved in ciliogenesis by Tau Tubulin kinase 2.
    Title: Phosphorylation of multiple proteins involved in ciliogenesis by Tau Tubulin kinase 2.
  8. Circular RNA TTBK2 promotes the development of human glioma cells via miR-520b/EZH2 axis.
    Title: Circular RNA TTBK2 promotes the development of human glioma cells via miR-520b/EZH2 axis.
  9. The TTBK2-dependent CEP83 phosphorylation is important for early ciliogenesis steps, including ciliary vesicle docking and CP110 removal.
    Title: Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation.
  10. Spinocerebellar ataxia type 11 (SCA11)-associated mutations are dominant negative alleles and the resulting truncated protein (TTBK2SCA11) interferes with the function of full length TTBK2 in mediating ciliogenesis.
    Title: Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.
Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0847

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables histone H2AS1 kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables kinesin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables microtubule plus-end binding TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein serine/threonine kinase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables tau protein binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables tau-protein kinase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables tau-protein kinase activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cerebellar granular layer development ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in cerebellar granule cell precursor tangential migration ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in cerebellum development ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in microtubule cytoskeleton organization IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in negative regulation of microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of microtubule depolymerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protein localization to microtubule IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell migration IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary transition zone IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary transition zone ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tau-tubulin kinase 2
NP_775771.3
XP_005254228.1
XP_005254230.1
XP_006720465.1
XP_006720466.1
XP_016877439.1
XP_047288145.1
XP_047288146.1
XP_047288147.1
XP_047288148.1
XP_054233329.1
XP_054233330.1
XP_054233331.1
XP_054233332.1
XP_054233333.1
XP_054233334.1
XP_054233335.1
XP_054233336.1
XP_054233337.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012664.1 RefSeqGene

    Range
    5001..181472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_173500.4 → NP_775771.3  tau-tubulin kinase 2

    See identical proteins and their annotated locations for NP_775771.3

    Status: REVIEWED

    Source sequence(s)
    AB020654, AC090510, AF525400, BC041876, BC071556, CB242184
    Consensus CDS
    CCDS42029.1
    UniProtKB/Swiss-Prot
    O94932, Q6IQ55, Q6ZN52, Q8IVV1
    Related
    ENSP00000267890.6, ENST00000267890.11
    Conserved Domains (1) summary
    cd14129
    Location:20 → 281
    STKc_TTBK2; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    42738730..42921000 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720402.5 → XP_006720465.1  tau-tubulin kinase 2 isoform X3

    Conserved Domains (2) summary
    COG0515
    Location:67 → 256
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:64 → 276
    PKc_like; Protein Kinases, catalytic domain

  2. XM_047432189.1 → XP_047288145.1  tau-tubulin kinase 2 isoform X2

    UniProtKB/Swiss-Prot
    O94932, Q6IQ55, Q6ZN52, Q8IVV1

  3. XM_005254173.6 → XP_005254230.1  tau-tubulin kinase 2 isoform X6

    Conserved Domains (2) summary
    COG0515
    Location:3 → 192
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:4 → 212
    PKc_like; Protein Kinases, catalytic domain

  4. XM_005254171.6 → XP_005254228.1  tau-tubulin kinase 2 isoform X1

    Conserved Domains (2) summary
    COG0515
    Location:78 → 267
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:75 → 287
    PKc_like; Protein Kinases, catalytic domain

  5. XM_047432191.1 → XP_047288147.1  tau-tubulin kinase 2 isoform X2

    UniProtKB/Swiss-Prot
    O94932, Q6IQ55, Q6ZN52, Q8IVV1

  6. XM_047432190.1 → XP_047288146.1  tau-tubulin kinase 2 isoform X2

    UniProtKB/Swiss-Prot
    O94932, Q6IQ55, Q6ZN52, Q8IVV1

  7. XM_006720403.5 → XP_006720466.1  tau-tubulin kinase 2 isoform X4

    See identical proteins and their annotated locations for XP_006720466.1

    Conserved Domains (1) summary
    cl21453
    Location:2 → 212
    PKc_like; Protein Kinases, catalytic domain

  8. XM_017021950.3 → XP_016877439.1  tau-tubulin kinase 2 isoform X5

    Conserved Domains (2) summary
    COG0515
    Location:3 → 168
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:1 → 188
    PKc_like; Protein Kinases, catalytic domain

  9. XM_047432192.1 → XP_047288148.1  tau-tubulin kinase 2 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    40545862..40728127 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377358.1 → XP_054233333.1  tau-tubulin kinase 2 isoform X3

  2. XM_054377355.1 → XP_054233330.1  tau-tubulin kinase 2 isoform X2

    UniProtKB/Swiss-Prot
    O94932, Q6IQ55, Q6ZN52, Q8IVV1

  3. XM_054377354.1 → XP_054233329.1  tau-tubulin kinase 2 isoform X1

  4. XM_054377361.1 → XP_054233336.1  tau-tubulin kinase 2 isoform X6

  5. XM_054377357.1 → XP_054233332.1  tau-tubulin kinase 2 isoform X2

    UniProtKB/Swiss-Prot
    O94932, Q6IQ55, Q6ZN52, Q8IVV1

  6. XM_054377356.1 → XP_054233331.1  tau-tubulin kinase 2 isoform X2

    UniProtKB/Swiss-Prot
    O94932, Q6IQ55, Q6ZN52, Q8IVV1

  7. XM_054377359.1 → XP_054233334.1  tau-tubulin kinase 2 isoform X4

  8. XM_054377360.1 → XP_054233335.1  tau-tubulin kinase 2 isoform X5

  9. XM_054377362.1 → XP_054233337.1  tau-tubulin kinase 2 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IQ55.2 GenPept UniProtKB/Swiss-Prot:Q6IQ55

Gene LinkOut

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