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

    Gene ID: 146057, updated on 27-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
    mouse all
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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
    • 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)

    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 3-phosphoinositide-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables Rho-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables eukaryotic translation initiation factor 2alpha kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS121 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AT120 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AXS139 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BS14 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BS36 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S10 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S28 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S57 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T11 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T3 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T45 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H4S1 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 ribosomal protein S6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

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