Human Gene TTBK2 (ENST00000267890.11_11) from GENCODE V47lift37
  Description: tau tubulin kinase 2 (from RefSeq NM_173500.4)
Gencode Transcript: ENST00000267890.11_11
Gencode Gene: ENSG00000128881.18_16
Transcript (Including UTRs)
   Position: hg19 chr15:43,030,928-43,212,976 Size: 182,049 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr15:43,037,993-43,170,815 Size: 132,823 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:43,030,928-43,212,976)mRNA (may differ from genome)Protein (1244 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TTBK2_HUMAN
DESCRIPTION: RecName: Full=Tau-tubulin kinase 2; EC=2.7.11.1;
FUNCTION: Serine/threonine kinase which is able to phosphorylate tau on serines (By similarity).
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
SUBUNIT: Interacts with CEP164.
DISEASE: Defects in TTBK2 are the cause of spinocerebellar ataxia type 11 (SCA11) [MIM:604432]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late-onset, slowly progressive neurologic disorder.
SIMILARITY: Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family.
SIMILARITY: Contains 1 protein kinase domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TTBK2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TTBK2
Diseases sorted by gene-association score: spinocerebellar ataxia 11* (1288), spinocerebellar ataxia type11* (100), encephalopathy, familial, with neuroserpin inclusion bodies (11), autosomal dominant cerebellar ataxia (10), spinocerebellar ataxia 28 (9), ataxia (6), cerebellar ataxia (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.37 RPKM in Testis
Total median expression: 108.23 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -203.10408-0.498 Picture PostScript Text
3' UTR -1854.907065-0.263 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS

Pfam Domains:
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine and serine/threonine kinase

SCOP Domains:
56112 - Protein kinase-like (PK-like)

ModBase Predicted Comparative 3D Structure on Q6IQ55
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0019894 kinesin binding
GO:0050321 tau-protein kinase activity
GO:0051010 microtubule plus-end binding

Biological Process:
GO:0000226 microtubule cytoskeleton organization
GO:0006468 protein phosphorylation
GO:0007026 negative regulation of microtubule depolymerization
GO:0007224 smoothened signaling pathway
GO:0008360 regulation of cell shape
GO:0016310 phosphorylation
GO:0018105 peptidyl-serine phosphorylation
GO:0021549 cerebellum development
GO:0021681 cerebellar granular layer development
GO:0021935 cerebellar granule cell precursor tangential migration
GO:0030030 cell projection organization
GO:0030334 regulation of cell migration
GO:0060271 cilium assembly
GO:0097711 ciliary basal body docking
GO:1902817 negative regulation of protein localization to microtubule
GO:1904527 negative regulation of microtubule binding

Cellular Component:
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005814 centriole
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0035869 ciliary transition zone
GO:0036064 ciliary basal body
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK131372 - Homo sapiens cDNA FLJ16421 fis, clone BRACE3003920, weakly similar to Serine/threonine-protein kinase K06H7.1 in chromosome III (EC 2.7.1.-).
AF525400 - Homo sapiens tau-tubulin kinase mRNA, complete cds.
BC071556 - Homo sapiens tau tubulin kinase 2, mRNA (cDNA clone MGC:86951 IMAGE:4829013), complete cds.
AB384535 - Synthetic construct DNA, clone: pF1KA0847, Homo sapiens TTBK2 gene for tau-tubulin kinase 2, complete cds, without stop codon, in Flexi system.
BC041876 - Homo sapiens tau tubulin kinase 2, mRNA (cDNA clone IMAGE:5271988), complete cds.
AK074481 - Homo sapiens cDNA FLJ23901 fis, clone LNG15812.
BX648356 - Homo sapiens mRNA; cDNA DKFZp686I22174 (from clone DKFZp686I22174).
JD308892 - Sequence 289916 from Patent EP1572962.
JD096420 - Sequence 77444 from Patent EP1572962.
JD308891 - Sequence 289915 from Patent EP1572962.
JD096419 - Sequence 77443 from Patent EP1572962.
JD188742 - Sequence 169766 from Patent EP1572962.
JD211867 - Sequence 192891 from Patent EP1572962.
JD542387 - Sequence 523411 from Patent EP1572962.
JD560872 - Sequence 541896 from Patent EP1572962.
JD410466 - Sequence 391490 from Patent EP1572962.
JD522448 - Sequence 503472 from Patent EP1572962.
JD522447 - Sequence 503471 from Patent EP1572962.
DQ586535 - Homo sapiens piRNA piR-53647, complete sequence.
DQ572375 - Homo sapiens piRNA piR-40487, complete sequence.
DQ575980 - Homo sapiens piRNA piR-44092, complete sequence.
DQ590279 - Homo sapiens piRNA piR-57391, complete sequence.
DQ577217 - Homo sapiens piRNA piR-45329, complete sequence.
DQ573556 - Homo sapiens piRNA piR-41668, complete sequence.
DQ573555 - Homo sapiens piRNA piR-41667, complete sequence.
DQ599476 - Homo sapiens piRNA piR-37542, complete sequence.
DQ585869 - Homo sapiens piRNA piR-52981, complete sequence.
DQ586540 - Homo sapiens piRNA piR-53652, complete sequence.
DQ586356 - Homo sapiens piRNA piR-53468, complete sequence.
DQ579742 - Homo sapiens piRNA piR-47854, complete sequence.
AB020654 - Homo sapiens mRNA for KIAA0847 protein, partial cds.
JD292231 - Sequence 273255 from Patent EP1572962.
JD107897 - Sequence 88921 from Patent EP1572962.
JD490647 - Sequence 471671 from Patent EP1572962.
JD048731 - Sequence 29755 from Patent EP1572962.
JD363323 - Sequence 344347 from Patent EP1572962.
JD406200 - Sequence 387224 from Patent EP1572962.
JD129194 - Sequence 110218 from Patent EP1572962.
JD207347 - Sequence 188371 from Patent EP1572962.
JD404813 - Sequence 385837 from Patent EP1572962.
JD186821 - Sequence 167845 from Patent EP1572962.
JD370709 - Sequence 351733 from Patent EP1572962.
JD465987 - Sequence 447011 from Patent EP1572962.
JD453628 - Sequence 434652 from Patent EP1572962.
JD177227 - Sequence 158251 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6IQ55 (Reactome details) participates in the following event(s):

R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-5617833 Cilium Assembly
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000267890.1, ENST00000267890.10, ENST00000267890.2, ENST00000267890.3, ENST00000267890.4, ENST00000267890.5, ENST00000267890.6, ENST00000267890.7, ENST00000267890.8, ENST00000267890.9, KIAA0847, NM_173500, O94932, Q6IQ55, Q6ZN52, Q8IVV1, TTBK2_HUMAN, uc317ilw.1, uc317ilw.2
UCSC ID: ENST00000267890.11_11
RefSeq Accession: NM_173500.4
Protein: Q6IQ55 (aka TTBK2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TTBK2:
ataxias (Hereditary Ataxia Overview)
sca11 (Spinocerebellar Ataxia Type 11)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.