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

Gene ID: 140810, updated on 2-Nov-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 ciliary base; ciliary transition zone; and microtubule organizing center. Is expressed in several structures, including 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, Nov 2024]
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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See Ttbk2 in Genome Data Viewer
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 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. 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
  3. Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms. Bao C, et al. Cell Mol Neurobiol, 2021 May. PMID 32424773
  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 (28) 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)
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (1) 
  • Gene trapped (1) 
  • Targeted (3)  1 citation

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 ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables histone H2AS1 kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables kinesin binding ISO
Inferred from Sequence Orthology
more info
  
enables protein kinase activity ISO
Inferred from Sequence Orthology
more info
  
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 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 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 
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 
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
  
involved_in peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
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 
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 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
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
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
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

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