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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
  • EC 2.7.11 61
  • 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 Type11. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. 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.

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

Regulatory Elements for TTBK2 Gene

Enhancers for TTBK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G042955 0.9 ENCODE 11.4 -35.3 -35293 2.5 HDAC1 HDGF PKNOX1 ZBTB40 ZNF207 FOS RELB IKZF2 CBFB CEBPB TTBK2 FDPSP4 UBR1
GH15G043103 1.1 ENCODE 8.6 -184.4 -184425 3.4 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 DEK CCNDBP1 TTBK2 CDAN1 CATSPER2P1 ZSCAN29 UBR1 FDPSP4
GH15G042704 0.8 ENCODE 11.4 +216.4 216420 0.2 CTCF ESRRA ARNT ARID4B THRB RAD21 RFX5 SMC3 CREM HOMEZ TTBK2 CDAN1 ENSG00000246283 PIR47708 ENSG00000278769
GH15G042826 0.7 ENCODE 11.6 +94.1 94090 1.5 SCRT1 PKNOX1 ZNF843 ZNF507 OSR2 JUND PRDM6 IKZF1 ZSCAN5C HMBOX1 TTBK2 KRT8P50
GH15G043092 0.9 Ensembl ENCODE 8.5 -172.0 -171961 1.8 BCOR NR2F1 NR2F2 ZNF121 IKZF1 RELB ZBTB33 NR2F6 IKZF2 CCNDBP1 TTBK2 ADAL KRT8P50 UBR1 FDPSP4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTBK2 on UCSC Golden Path with GeneCards custom track

Promoters for TTBK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075798 307 2201 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZBTB7B YY1 ZNF143 FOS KLF13

Genomic Location for TTBK2 Gene

Chromosome:
15
Start:
42,738,734 bp from pter
End:
42,921,007 bp from pter
Size:
182,274 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

Selected DME Specific Peptides for TTBK2 Gene

Q6IQ55:
  • FLHRDIK
  • LDFGLAR

Post-translational modifications for TTBK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cloud-Clone Corp. Antibodies for TTBK2

Domains & Families 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 :
  • 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 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 IEA --
GO:0004674 protein serine/threonine kinase activity IDA,IEA 21548880
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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

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 IEA,IDA 21548880
GO:0005737 cytoplasm IEA --
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:0006468 protein phosphorylation IEA --
GO:0007224 smoothened signaling pathway ISS --
GO:0008360 regulation of cell shape IBA --
GO:0016310 phosphorylation IEA --
GO:0018105 peptidyl-serine phosphorylation IDA 21548880
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
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 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:

CRISPR Products

Inhibitory RNA Products

Clone 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 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, PaxDb, 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(4.4)

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

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia TTBK2 34 35
  • 99.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TTBK2 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTBK2 34 35
  • 92.66 (n)
cow
(Bos Taurus)
Mammalia TTBK2 34 35
  • 91.23 (n)
mouse
(Mus musculus)
Mammalia Ttbk2 34 16 35
  • 88.82 (n)
rat
(Rattus norvegicus)
Mammalia Ttbk2 34
  • 88.25 (n)
oppossum
(Monodelphis domestica)
Mammalia TTBK2 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTBK2 34 35
  • 75.33 (n)
lizard
(Anolis carolinensis)
Reptilia TTBK2 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttbk2 34
  • 68.76 (n)
zebrafish
(Danio rerio)
Actinopterygii TTBK2 (2 of 2) 35
  • 45 (a)
OneToMany
ttbk2 35
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Asator 35
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R90.1 35
  • 33 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6371 34
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)

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
VAR_041266 A lung small cell carcinoma sample
rs318240735 Pathogenic 42,777,133(-) ACAGA(-/GA)TATTC reference, frameshift-variant
rs80356538 Pathogenic 42,777,110(-) AGTTA(-/A)CGTTC reference, frameshift-variant
rs80356539 Pathogenic 42,777,155(-) CGCTC(-/AG)AGATT reference, frameshift-variant
rs116853892 Likely benign 42,745,212(+) AAAAT(A/T)TTAAA utr-variant-3-prime

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)

Relevant External Links for TTBK2 Gene

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

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

Disorders for TTBK2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TTBK2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 11
  • spinocerebellar ataxia type 11
spinocerebellar ataxia type11
  • sca 11
encephalopathy, familial, with neuroserpin inclusion bodies
  • familial encephalopathy with neuroserpin inclusion bodies
spinocerebellar ataxia 28
  • spinocerebellar ataxia type 28
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
- 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.

Relevant External Links for TTBK2

Genetic Association Database (GAD)
TTBK2
Human Genome Epidemiology (HuGE) Navigator
TTBK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTBK2
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. … Zuhlke C. (J. Neurol. 2009) 3 4 22 46 64
  2. 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 22 64
  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 Res. 1998) 2 3 4 64
  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 64
  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 64

Products for TTBK2 Gene

Sources for TTBK2 Gene

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