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Aliases for TTBK2 Gene

Aliases for TTBK2 Gene

  • Tau Tubulin Kinase 2 2 3
  • SCA11 3 6
  • Spinocerebellar Ataxia 11 2
  • Tau-Tubulin Kinase 2 3
  • EC 2.7.11.1 4
  • EC 2.7.11 63
  • KIAA0847 4
  • TTBK 3

External Ids for TTBK2 Gene

Previous HGNC Symbols for TTBK2 Gene

  • SCA11

Previous GeneCards Identifiers for TTBK2 Gene

  • GC15M040615
  • GC15M040753
  • GC15M040752
  • GC15M040825
  • GC15M043036
  • GC15M019885
  • GC15M043030

Summaries for TTBK2 Gene

Entrez Gene Summary for TTBK2 Gene

  • 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]

GeneCards Summary for TTBK2 Gene

TTBK2 (Tau Tubulin Kinase 2) is a Protein Coding gene. Diseases associated with TTBK2 include spinocerebellar ataxia 11 and spinocerebellar ataxia type11. GO annotations related to this gene include protein serine/threonine kinase activity. An important paralog of this gene is CSNK1G2.

UniProtKB/Swiss-Prot for TTBK2 Gene

  • Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the recruitment of IFT proteins, which build the ciliary axoneme. Has some substrate preference for proteins that are already phosphorylated on a Tyr residue at the +2 position relative to the phosphorylation site. Able to phosphorylate tau on serines in vitro.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTBK2 Gene

Genomics for TTBK2 Gene

Regulatory Elements for TTBK2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TTBK2 Gene

Start:
42,738,734 bp from pter
End:
42,920,995 bp from pter
Size:
182,262 bases
Orientation:
Minus strand

Genomic View for TTBK2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TTBK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTBK2 Gene

Proteins for TTBK2 Gene

  • Protein details for TTBK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IQ55-TTBK2_HUMAN
    Recommended name:
    Tau-tubulin kinase 2
    Protein Accession:
    Q6IQ55
    Secondary Accessions:
    • O94932
    • Q6ZN52
    • Q8IVV1

    Protein attributes for TTBK2 Gene

    Size:
    1244 amino acids
    Molecular mass:
    137412 Da
    Quaternary structure:
    • Interacts with CEP164.

    Alternative splice isoforms for TTBK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTBK2 Gene

Proteomics data for TTBK2 Gene at MOPED

Selected DME Specific Peptides for TTBK2 Gene

Post-translational modifications for TTBK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TTBK2 Gene

Domains for TTBK2 Gene

Gene Families for TTBK2 Gene

Protein Domains for TTBK2 Gene

Suggested Antigen Peptide Sequences for TTBK2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6IQ55

UniProtKB/Swiss-Prot:

TTBK2_HUMAN :
  • Q6IQ55
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family.
genes like me logo Genes that share domains with TTBK2: view

Function for TTBK2 Gene

Molecular function for TTBK2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=18 uM for RRKDLHDDEEDEAMSIYpA peptide {ECO:0000269 PubMed:21548880}; KM=141 uM for RRKDLHDDEEDEAMSIYA peptide {ECO:0000269 PubMed:21548880}; Vmax=76 umol/min/mg enzyme with RRKDLHDDEEDEAMSIYpA peptide as substrate {ECO:0000269 PubMed:21548880}; Vmax=66 umol/min/mg enzyme with RRKDLHDDEEDEAMSIYA peptide as substrate {ECO:0000269 PubMed:21548880};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the recruitment of IFT proteins, which build the ciliary axoneme. Has some substrate preference for proteins that are already phosphorylated on a Tyr residue at the +2 position relative to the phosphorylation site. Able to phosphorylate tau on serines in vitro.

Enzyme Numbers (IUBMB) for TTBK2 Gene

Gene Ontology (GO) - Molecular Function for TTBK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IDA 21548880
GO:0004713 protein tyrosine kinase activity --
GO:0005198 structural molecule activity --
GO:0005515 protein binding IPI 22863007
genes like me logo Genes that share ontologies with TTBK2: view
genes like me logo Genes that share phenotypes with TTBK2: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TTBK2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TTBK2 Gene

Localization for TTBK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTBK2 Gene

Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytosol. Nucleus. Note=Localizes to the transition zone in primary cilia in response to cell cycle signals that promote ciliogenesis (By similarity). May also be present in cytosol and, at lower level in the nucleus. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTBK2 Gene COMPARTMENTS Subcellular localization image for TTBK2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5

Gene Ontology (GO) - Cellular Components for TTBK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005634 nucleus IDA 21548880
GO:0005814 centriole IEA --
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament --
genes like me logo Genes that share ontologies with TTBK2: view

Pathways for TTBK2 Gene

SuperPathways for TTBK2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTBK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation --
GO:0006996 organelle organization TAS --
GO:0007224 smoothened signaling pathway ISS --
GO:0008219 cell death --
GO:0008360 regulation of cell shape IBA --
genes like me logo Genes that share ontologies with TTBK2: view

No data available for Pathways by source for TTBK2 Gene

Compounds for TTBK2 Gene

(2) HMDB Compounds for TTBK2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
genes like me logo Genes that share compounds with TTBK2: view

Transcripts for TTBK2 Gene

Unigene Clusters for TTBK2 Gene

Tau tubulin kinase 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TTBK2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTBK2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1:
SP2: -

Relevant External Links for TTBK2 Gene

GeneLoc Exon Structure for
TTBK2
ECgene alternative splicing isoforms for
TTBK2

Expression for TTBK2 Gene

mRNA expression in normal human tissues for TTBK2 Gene

mRNA differential expression in normal tissues according to GTEx for TTBK2 Gene

This gene is overexpressed in Testis (6.3).

Protein differential expression in normal tissues for TTBK2 Gene

This gene is overexpressed in Spleen (41.3) and Heart (27.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTBK2 Gene

SOURCE GeneReport for Unigene cluster for TTBK2 Gene Hs.646511

genes like me logo Genes that share expressions with TTBK2: view

Expression partners for TTBK2 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for TTBK2 Gene

Orthologs for TTBK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTBK2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TTBK2 35
  • 91.23 (n)
  • 91.63 (a)
TTBK2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTBK2 35
  • 92.66 (n)
  • 93.73 (a)
TTBK2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttbk2 35
  • 88.82 (n)
  • 89.86 (a)
Ttbk2 16
Ttbk2 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TTBK2 35
  • 99.76 (n)
  • 99.84 (a)
TTBK2 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttbk2 35
  • 88.25 (n)
  • 89.93 (a)
oppossum
(Monodelphis domestica)
Mammalia TTBK2 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTBK2 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTBK2 35
  • 75.33 (n)
  • 77.09 (a)
TTBK2 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTBK2 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttbk2 35
  • 68.76 (n)
  • 68.48 (a)
zebrafish
(Danio rerio)
Actinopterygii ttbk2 36
  • 44 (a)
OneToMany
TTBK2 (2 of 2) 36
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Asator 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R90.1 36
  • 33 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6371 35
Species with no ortholog for TTBK2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TTBK2 Gene

ENSEMBL:
Gene Tree for TTBK2 (if available)
TreeFam:
Gene Tree for TTBK2 (if available)

Paralogs for TTBK2 Gene

genes like me logo Genes that share paralogs with TTBK2: view

Variants for TTBK2 Gene

Sequence variations from dbSNP and Humsavar for TTBK2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs1064028 -- 42,746,008(-) CGGCC(C/G)CACCA reference, synonymous-codon
rs1197533 -- 42,906,729(+) tcaac(A/G)aagta intron-variant
rs1197534 -- 42,907,922(+) aaaaa(A/T)aataa intron-variant
rs1206698 -- 42,911,888(+) ttctc(C/T)aggcc intron-variant
rs1317628 -- 42,774,371(-) AGAGA(C/T)GGCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTBK2 Gene

Variant ID Type Subtype PubMed ID
nsv528725 CNV Gain 19592680
nsv457122 CNV Loss 19166990
nsv525461 CNV Loss 19592680
esv2668443 CNV Deletion 23128226
esv2667428 CNV Deletion 23128226
nsv904134 CNV Gain 21882294
nsv94744 CNV Loss 16902084
nsv515876 CNV Gain+Loss 19592680
nsv904135 CNV Loss 21882294

Relevant External Links for TTBK2 Gene

HapMap Linkage Disequilibrium report
TTBK2
Human Gene Mutation Database (HGMD)
TTBK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTBK2 Gene

Disorders for TTBK2 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for TTBK2 Gene in MalaCards »

(4) Diseases for TTBK2 Gene including...

(1) OMIM Diseases for TTBK2 Gene (611695)

UniProtKB/Swiss-Prot

TTBK2_HUMAN
  • Spinocerebellar ataxia 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. {ECO:0000269 PubMed:18037885}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TTBK2

GeneTests
TTBK2
GeneReviews
TTBK2
Genetic Association Database (GAD)
TTBK2
Human Genome Epidemiology (HuGE) Navigator
TTBK2
genes like me logo Genes that share disorders with TTBK2: view

No data available for Novoseek inferred disease relationships and Genatlas for TTBK2 Gene

Publications for TTBK2 Gene

  1. Missense exchanges in the TTBK2 gene mutated in SCA11. (PMID: 19533200) Edener U. … Zuhlke C. (J. Neurol. 2009) 3 4 23 48
  2. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4
  3. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. (PMID: 18037885) Houlden H. … Wood N.W. (Nat. Genet. 2007) 3 4 23
  4. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. (PMID: 22863007) Chaki M. … Hildebrandt F. (Cell 2012) 3 4
  5. The spinocerebellar ataxia-associated gene tau tubulin kinase 2 controls the initiation of ciliogenesis. (PMID: 23141541) Goetz S.C. … Anderson K.V. (Cell 2012) 3 4

Products for TTBK2 Gene

Sources for TTBK2 Gene

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