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Aliases for TTBK2 Gene

Aliases for TTBK2 Gene

  • Tau Tubulin Kinase 2 2 3 5
  • Spinocerebellar Ataxia 11 2
  • Tau-Tubulin Kinase 2 3
  • EC 2.7.11.1 4
  • KIAA0847 4
  • SCA11 3
  • 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 28. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TTBK1.

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.

Additional gene information for TTBK2 Gene

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

Genomics for TTBK2 Gene

GeneHancer (GH) Regulatory Elements for TTBK2 Gene

Promoters and enhancers for TTBK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J042919 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 656.4 +0.3 311 2.7 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZBTB7B IRF4 YY1 ZNF213 E2F8 TTBK2 ZSCAN29 CDAN1 LCMT2 WDR76 MFAP1 LRRC57 CATSPER2 KRT8P50
GH15J043103 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 8.6 -184.4 -184425 3.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 UBR1 CCNDBP1 TTBK2 CDAN1 CATSPER2P1 ZSCAN29 ENSG00000285080 FDPSP4
GH15J042955 Enhancer 0.7 ENCODE 11.4 -35.3 -35292 2.5 BCOR HDAC1 JUN BACH1 CEBPG ZBTB40 FOSL1 ZNF316 FOXK2 ADNP TTBK2 FDPSP4 UBR1
GH15J042704 Enhancer 0.7 ENCODE 11.4 +216.4 216419 0.2 CTCF ARNT ARID4B THRB RAD21 RFX5 CC2D1A ZNF143 SMC3 HOMEZ TTBK2 ENSG00000246283 CDAN1 PIR47708 ENSG00000278769 STARD9
GH15J042826 Enhancer 0.6 ENCODE 11.6 +94.1 94089 1.5 SCRT1 PKNOX1 ZNF843 ZNF507 OSR2 PRDM6 GATA3 JUND ZSCAN5C TTBK2 KRT8P50
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTBK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTBK2 gene promoter:
  • c-Fos
  • AP-1
  • c-Jun
  • AP-2alpha
  • AP-2gamma
  • AP-2beta
  • AP-2alphaA
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2

Genomic Locations for TTBK2 Gene

Genomic Locations for TTBK2 Gene
chr15:42,738,734-42,921,007
(GRCh38/hg38)
Size:
182,274 bases
Orientation:
Minus strand
chr15:43,030,932-43,213,007
(GRCh37/hg19)
Size:
182,076 bases
Orientation:
Minus strand

Genomic View for TTBK2 Gene

Genes around TTBK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTBK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for TTBK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TTBK2 Gene

Domains & Families for TTBK2 Gene

Gene Families for TTBK2 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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 :
  • Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family.
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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
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};

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 IDA,IEA 26323690
GO:0004674 protein serine/threonine kinase activity NAS 28386764
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 22863007
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with TTBK2: view
genes like me logo Genes that share phenotypes with TTBK2: view

Human Phenotype Ontology for TTBK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TTBK2

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTBK2 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TTBK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005634 nucleus IEA,IDA 21548880
GO:0005737 cytoplasm IEA,IBA --
GO:0005814 centriole IDA 23141541
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TTBK2: view

Pathways & Interactions for TTBK2 Gene

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

Pathways by source for TTBK2 Gene

Gene Ontology (GO) - Biological Process for TTBK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IGI 26323690
GO:0006468 protein phosphorylation IEA --
GO:0007026 negative regulation of microtubule depolymerization IDA 26323690
GO:0007224 smoothened signaling pathway ISS --
GO:0008360 regulation of cell shape IBA --
genes like me logo Genes that share ontologies with TTBK2: view

No data available for SIGNOR curated interactions for TTBK2 Gene

Drugs & Compounds for TTBK2 Gene

(1) Drugs for TTBK2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(1) Additional Compounds for TTBK2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TTBK2 Gene

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

This gene is overexpressed in Testis (x6.3).

Protein differential expression in normal tissues from HIPED for TTBK2 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TTBK2 Gene



Protein tissue co-expression partners for TTBK2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TTBK2 Gene:

TTBK2

SOURCE GeneReport for Unigene cluster for TTBK2 Gene:

Hs.646511

Evidence on tissue expression from TISSUES for TTBK2 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TTBK2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
General:
  • spinal cord
genes like me logo Genes that share expression patterns with TTBK2: view

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
chimpanzee
(Pan troglodytes)
Mammalia TTBK2 34 33
  • 99.76 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTBK2 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTBK2 34 33
  • 92.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTBK2 34 33
  • 91.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ttbk2 16 34 33
  • 88.82 (n)
rat
(Rattus norvegicus)
Mammalia Ttbk2 33
  • 88.25 (n)
oppossum
(Monodelphis domestica)
Mammalia TTBK2 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTBK2 34 33
  • 75.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTBK2 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttbk2 33
  • 68.76 (n)
zebrafish
(Danio rerio)
Actinopterygii TTBK2 (2 of 2) 34
  • 45 (a)
OneToMany
ttbk2 34
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Asator 34
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R90.1 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea Cin.6371 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6371 33
Species where no ortholog for TTBK2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TTBK2: view image

Paralogs for TTBK2 Gene

Paralogs for TTBK2 Gene

(21) SIMAP similar genes for TTBK2 Gene using alignment to 5 proteins:

  • TTBK2_HUMAN
  • H3BMY7_HUMAN
  • H3BQ25_HUMAN
  • H3BTY5_HUMAN
  • Q8IWY7_HUMAN
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 Variation AA Info Type
rs116853892 likely-benign, Spinocerebellar Ataxia, Dominant 42,745,212(-) T/A 3_prime_UTR_variant
rs117382379 likely-benign, Spinocerebellar Ataxia, Dominant 42,752,968(-) G/A coding_sequence_variant, missense_variant
rs12437637 benign, Spinocerebellar Ataxia, Dominant 42,920,620(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs143836514 likely-benign, Spinocerebellar Ataxia, Dominant 42,794,636(-) G/T intron_variant
rs144199562 likely-benign, Spinocerebellar Ataxia, Dominant 42,746,199(-) G/C coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv4500n54 CNV loss 21841781
esv2667428 CNV deletion 23128226
esv2668443 CNV deletion 23128226
esv3446307 CNV insertion 20981092
esv3552372 CNV deletion 23714750
esv3636281 CNV loss 21293372
esv3636282 CNV loss 21293372
esv3636283 CNV gain 21293372
esv3636285 CNV gain 21293372
nsv1036512 CNV gain 25217958
nsv457122 CNV loss 19166990
nsv515876 CNV gain+loss 19592680
nsv525461 CNV loss 19592680
nsv528725 CNV gain 19592680
nsv569238 CNV loss 21841781
nsv569241 CNV loss 21841781
nsv94744 CNV deletion 16902084
nsv974564 CNV duplication 23825009

Variation tolerance for TTBK2 Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.49; 71.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTBK2 Gene

Human Gene Mutation Database (HGMD)
TTBK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTBK2

SNP Genotyping and Copy Number Assay Products

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

Disorders for TTBK2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TTBK2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TTBK2 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for TTBK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TTBK2: view

No data available for Genatlas for TTBK2 Gene

Publications for TTBK2 Gene

  1. Missense exchanges in the TTBK2 gene mutated in SCA11. (PMID: 19533200) Edener U … Zühlke C (Journal of neurology 2009) 3 4 22 44 58
  2. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. (PMID: 18037885) Houlden H … Wood NW (Nature genetics 2007) 3 4 22 58
  3. 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  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 58
  5. The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. (PMID: 23141541) Goetz SC … Anderson KV (Cell 2012) 3 4 58

Products for TTBK2 Gene

Sources for TTBK2 Gene

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