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    Ttbk2 tau tubulin kinase 2 [ Mus musculus (house mouse) ]

    Gene ID: 140810, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Ttbk2provided by MGI
    Official Full Name
    tau tubulin kinase 2provided by MGI
    Primary source
    MGI:MGI:2155779
    See related
    Ensembl:ENSMUSG00000090100 AllianceGenome:MGI:2155779
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    TTK; Ttbk; Ttbk1; mKIAA0847; 2610507N02Rik; B930008N24Rik
    Summary
    Enables protein serine/threonine kinase activity. Involved in cilium assembly; hindbrain development; and smoothened signaling pathway. Acts upstream of or within several processes, including embryonic brain development; nervous system development; and positive regulation of non-motile cilium assembly. Located in centriole; ciliary basal body; and ciliary transition zone. Is expressed in nervous system. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 11. Orthologous to human TTBK2 (tau tubulin kinase 2). [provided by Alliance of Genome Resources, Apr 2022]
    Annotation information
    Note: This record was renamed from Ttbk1 to Ttbk2 to conform to the annotation of human. [11 Apr 2007]
    Expression
    Broad expression in testis adult (RPKM 17.3), cerebellum adult (RPKM 7.9) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 E5; 2 60.37 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (120563297..120681111, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (120732816..120850584, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:120435029-120435138 Neighboring gene STARR-seq mESC enhancer starr_05512 Neighboring gene STARR-positive B cell enhancer ABC_E414 Neighboring gene leucine rich repeat containing 57 Neighboring gene HAUS augmin-like complex, subunit 2 Neighboring gene StAR related lipid transfer domain containing 9 Neighboring gene STARR-seq mESC enhancer starr_05514 Neighboring gene codanin 1 Neighboring gene STARR-seq mESC enhancer starr_05516 Neighboring gene STARR-positive B cell enhancer ABC_E3396 Neighboring gene expressed sequence AV039307 Neighboring gene ubiquitin protein ligase E3 component n-recognin 1 Neighboring gene STARR-positive B cell enhancer ABC_E5971 Neighboring gene STARR-positive B cell enhancer ABC_E147 Neighboring gene small nucleolar RNA, C/D box 3B, pseudogene 2 Neighboring gene transmembrane protein 62

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. TTBK2 controls cilium stability by regulating distinct modules of centrosomal proteins. Nguyen A, et al. Mol Biol Cell, 2023 Jan 1. PMID 36322399, Free PMC Article
    2. Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms. Bao C, et al. Cell Mol Neurobiol, 2021 May. PMID 32424773
    3. Tau-tubulin kinase phosphorylates tau at Ser-208 and Ser-210, sites found in paired helical filament-tau. Tomizawa K, et al. FEBS Lett, 2001 Mar 16. PMID 11257498
    4. TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons. Bowie E, et al. Elife, 2020 Jan 14. PMID 31934864, Free PMC Article
    5. TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development. Bouskila M, et al. Biochem J, 2011 Jul 1. PMID 21548880, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms.
      Title: Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms.
    2. TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons.
      Title: TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons.
    3. Study shows that TTBK2 is a dedicated regulator of the initiation of ciliogenesis in vivo; TTBK2 acts at the distal end of the basal body, where it promotes the removal of CP110, which caps the mother centriole, and promotes recruitment of intraflagellar transport proteins.
      Title: The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3)  1 citation
    • Chemically induced (ENU) (1)  1 citation
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 

    Pathways from PubChem

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    General gene information

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    Markers

    Potential readthrough

    Included gene: Cdan1

    Homology

    Clone Names

    • KIAA0847

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables kinesin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein kinase activity ISO
    Inferred from Sequence Orthology
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cerebellar granular layer development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cerebellar granule cell precursor tangential migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cerebellum development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within forebrain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of microtubule binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of microtubule depolymerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein localization to microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neural tube development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in peptidyl-serine phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptidyl-serine phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization to organelle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    tau-tubulin kinase 2
    Names
    protein bartleby
    NP_001020027.1
    NP_001020028.1
    NP_542966.2

    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.

    mRNA and Protein(s)

    1. NM_001024856.3 → NP_001020027.1  tau-tubulin kinase 2 isoform 2

      See identical proteins and their annotated locations for NP_001020027.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has a different 5' end exon compared to transcript variant 1. It encodes an isoform (2) that is shorter and with a distinct N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AL935168
      Consensus CDS
      CCDS16627.1
      UniProtKB/Swiss-Prot
      A2AW12, Q3TSR6, Q3UFW0, Q3UVR3, Q571D1, Q8BKA4, Q924U8
      Related
      ENSMUSP00000083001.5, ENSMUST00000085840.11
      Conserved Domains (2) summary
      cd14129
      Location:20 → 281
      STKc_TTBK2; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 2
      pfam00069
      Location:21 → 260
      Pkinase; Protein kinase domain

    2. NM_001024857.3 → NP_001020028.1  tau-tubulin kinase 2 isoform 2

      See identical proteins and their annotated locations for NP_001020028.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) is missing a non-coding exon compared to transcript variant 2. Both variants encode the same isoform (2).
      Source sequence(s)
      AL935168
      Consensus CDS
      CCDS16627.1
      UniProtKB/Swiss-Prot
      A2AW12, Q3TSR6, Q3UFW0, Q3UVR3, Q571D1, Q8BKA4, Q924U8
      Related
      ENSMUSP00000055032.8, ENSMUST00000057135.14
      Conserved Domains (2) summary
      cd14129
      Location:20 → 281
      STKc_TTBK2; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 2
      pfam00069
      Location:21 → 260
      Pkinase; Protein kinase domain

    3. NM_080788.4 → NP_542966.2  tau-tubulin kinase 2 isoform 1

      See identical proteins and their annotated locations for NP_542966.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL935168
      Consensus CDS
      CCDS16626.1
      UniProtKB/TrEMBL
      A2AW15
      Related
      ENSMUSP00000028740.5, ENSMUST00000028740.11
      Conserved Domains (2) summary
      cd14129
      Location:89 → 350
      STKc_TTBK2; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 2
      pfam00069
      Location:90 → 329
      Pkinase; Protein kinase domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      120563297..120681111 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UVR3.1 GenPept UniProtKB/Swiss-Prot:Q3UVR3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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