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TTBK2 Gene

protein-coding   GIFtS: 59
GCID: GC15M043030

Tau Tubulin Kinase 2

(Previous name: spinocerebellar ataxia 11)
(Previous symbol: SCA11)
  See TTBK2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tau Tubulin Kinase 21 2     Tau-Tubulin Kinase 22
SCA111 2 5     EC 2.7.11.13
Spinocerebellar Ataxia 111     KIAA08473
TTBK2     EC 2.7.118

External Ids:    HGNC: 191411   Entrez Gene: 1460572   Ensembl: ENSG000001288817   OMIM: 6116955   UniProtKB: Q6IQ553   

Export aliases for TTBK2 gene to outside databases

Previous GC identifers: GC15M040615 GC15M040753 GC15M040752 GC15M040825 GC15M043036 GC15M019885


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 type11, and spinocerebellar ataxia type 11. GO annotations related to this gene include protein serine/threonine kinase activity. An important paralog of this gene is VRK3.

UniProtKB/Swiss-Prot: TTBK2_HUMAN, Q6IQ55
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTBK2 gene promoter:
         Nkx3-1   c-Fos   AP-1   Nkx3-1 v1   AP-2gamma   Nkx3-1 v2   AP-2beta   c-Jun   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTBK2 promoter sequence
   Search Chromatin IP Primers for TTBK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTBK2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q15.2   Ensembl cytogenetic band:  15q15.2   HGNC cytogenetic band: 15q15.2

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M043030:  view genomic region     (about GC identifiers)

Start:
43,030,932 bp from pter      End:
43,213,007 bp from pter
Size:
182,076 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TTBK2_HUMAN, Q6IQ55 (See protein sequence)
Recommended Name: Tau-tubulin kinase 2  
Size: 1244 amino acids; 137412 Da
Subunit: Interacts with CEP164
Secondary accessions: O94932 Q6ZN52 Q8IVV1
Alternative splicing: 3 isoforms:  Q6IQ55-1   Q6IQ55-2   Q6IQ55-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TTBK2: NX_Q6IQ55

Explore proteomics data for TTBK2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for TTBK2 (Q6IQ55)
     LDFGLAR  FLHRDIK 


    See TTBK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775771.3  
    ENSEMBL proteins: 
     ENSP00000267890   ENSP00000455734   ENSP00000457489   ENSP00000455574   ENSP00000457385  
     ENSP00000454605  

    TTBK2 Human Recombinant Protein Products:

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    Novus Biologicals TTBK2 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for TTBK2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: tau tubulin kinase 2
    Tau tubulin kinase (TTBK) family

    3 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q6IQ55

    ProtoNet protein and cluster: Q6IQ55

    UniProtKB/Swiss-Prot: TTBK2_HUMAN, Q6IQ55
    Similarity: Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with TTBK2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TTBK2_HUMAN, Q6IQ55
    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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Biophysicochemical properties: Kinetic parameters: KM=18 uM for RRKDLHDDEEDEAMSIYpA peptide; KM=141 uM for
    RRKDLHDDEEDEAMSIYA peptide; Vmax=76 umol/min/mg enzyme with RRKDLHDDEEDEAMSIYpA peptide as substrate; Vmax=66
    umol/min/mg enzyme with RRKDLHDDEEDEAMSIYA peptide as substrate;

         Enzyme Numbers (IUBMB): EC 2.7.112 EC 2.7.11.11

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with TTBK2           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for TTBK2:
     Decreased Salmonella enterica   Decreased cilium length  Decreased cilium length after   Decreased substrate adherent c 
     Synthetic lethal with Ras 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ttbk2):
     cardiovascular system  cellular  embryogenesis  growth/size/body  limbs/digits/tail 
     mortality/aging  nervous system 

    Find genes that share phenotypes with TTBK2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TTBK2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TTBK2
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    SwitchGear 3'UTR luciferase reporter plasmidTTBK2 3' UTR sequence
    Inhib. RNA
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    eBioscience FlowRNA Probe Sets ( VA1-11698) for TTBK2 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TTBK2_HUMAN, Q6IQ55: Cell projection, cilium (By similarity). Cytoplasm, cytoskeleton, cilium basal body (By
    similarity). 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    nucleus5

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005634nucleus IDA--
    GO:0005814centriole IEA--
    GO:0005829cytosol IDA--
    GO:0035869ciliary transition zone ISS--

    Find genes that share ontologies with TTBK2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TTBK2
    Interactions:

        Search GeneGlobe Interaction Network for TTBK2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TTBK2 (Q6IQ551, 3 ENSP000002678904) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRKP461083, ENSP000003005744I2D: score=1 STRING: ENSP00000300574
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    TTBK1Q5TCY13, ENSP000002597504I2D: score=1 STRING: ENSP00000259750
    ZWINTO952293, ENSP000003630554I2D: score=1 STRING: ENSP00000363055
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0007224smoothened signaling pathway ISS--
    GO:0008219cell death IEA--
    GO:0018105peptidyl-serine phosphorylation IDA--
    GO:0042384cilium assembly ISS--

    Find genes that share ontologies with TTBK2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TTBK2

    2 HMDB Compounds for TTBK2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TTBK2 gene: 
    NM_173500.3  

    Unigene Cluster for TTBK2:

    Tau tubulin kinase 2
    Hs.646511  [show with all ESTs]
    Unigene Representative Sequence: NM_173500
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000267890(uc001zqo.2 uc010bcy.2) ENST00000567840(uc001zqp.3)
    ENST00000567274 ENST00000564431 ENST00000562880 ENST00000566931 ENST00000567485

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TTBK2 (see all 22):
    hsa-miR-449c* hsa-miR-4272 hsa-miR-1271 hsa-miR-200a hsa-miR-624 hsa-miR-342-3p hsa-miR-421 hsa-miR-141
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    Additional mRNA sequence: 

    AB020654.1 AF525400.1 AK131372.1 BC041876.1 BC071556.1 

    10 DOTS entries:

    DT.91856557  DT.97835428  DT.100813216  DT.92040193  DT.100726914  DT.91729590  DT.121018306  DT.95349013 
    DT.40274210  DT.92415918 

    Selected AceView cDNA sequences (see all 151):

    CB164285 BM511674 BU501589 BE221530 H84808 CD557495 NM_173500 CB242184 
    AA721153 AA425557 AI220347 BX648356 BF433920 AA970932 BQ942963 AI218402 
    BQ882639 CR615164 H95102 AA084178 AB020654 AA909925 AI689827 AV660865 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TTBK2    About this scheme

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


    ECgene alternative splicing isoforms for TTBK2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TTBK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGTCCCTG
    TTBK2 Expression
    About this image

    TTBK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTBK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.646511
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTBK2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TTBK2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttbk21 , 5 tau tubulin kinase 21, 5 88.82(n)1
    89.86(a)1
      2 (60.37 cM)5
    1408101  NM_080788.31  NP_542966.21 
     1207328165 
    chicken
    (Gallus gallus)
    Aves TTBK21 tau tubulin kinase 2 75.33(n)
    77.09(a)
      423241  XM_004941660.1  XP_004941717.1 
    lizard
    (Anolis carolinensis)
    Reptilia TTBK26
    tau tubulin kinase 2
    70(a)
    1 ↔ 1
    1(39570871-39637451)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ttbk21 tau tubulin kinase 2 68.76(n)
    68.48(a)
      780299  NM_001079370.2  NP_001072838.1 
    zebrafish
    (Danio rerio)
    Actinopterygii TTBK2 (2 of 2)6
    ttbk26
    tau tubulin kinase 2
    45(a)
    44(a)
    1 ↔ many
    1 ↔ many
    20(25940949-25957962) ENSDARG00000043026
    17(45383137-45414385) ENSDARG00000005670
    fruit fly
    (Drosophila melanogaster)
    Insecta Asator6
    Asator
    28(a)
    1 → many
    4(490035-506659)
    worm
    (Caenorhabditis elegans)
    Secernentea R90.16
    Protein R90.1 (R90.1) mRNA, complete cds
    33(a)
    1 → many
    V(12891527-12895872) WBGene00011283


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TTBK2 gene
    VRK32  VRK12  CSNK1G32  VRK22  CSNK1D2  ENSG000002593162  CSNK1A12  CSNK1G22  
    CSNK1A1L2  TTBK12  CSNK1E2  CSNK1G12  
    Selected SIMAP similar genes for TTBK2 using alignment to 5 protein entries:     TTBK2_HUMAN (see all proteins) (see all similar genes):
    KRT8    KRT5    CSNK1A1    KRT1    KRT4    KRT74
    KRT79    KRT71    CSNK1D    CSNK1E    KRT6A    KRT7
    KRT72    KRT84    KRTHB1    KRT85    MAP3K3    KRT82

    Find genes that share paralogs with TTBK2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TTBK2 (see all 3069)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0412664
    A lung small cell carcinoma sample4--see VAR_0412662 D G mis40--------
    rs1462793001,2
    Cuntested123104249(+) CCAGGC/TGGGAG 2 H R mis10--------
    rs1445126611,2
    C--19884761(+) ATATG-/TCTCTCT 1 -- int10--------
    rs2018789861,2
    C--19910206(+) AAGAC-/TTTTATG 1 -- int10--------
    rs58122341,2
    C--19931203(+) gtctaT/-ttttt 1 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs99206131,2
    C--19971611(+) tatatA/Gtgtgt 1 -- int10--------
    rs1873635771,2
    --23101945(+) CACAAC/TAGAAA 1 -- int10--------
    rs1895111791,2
    --23102265(+) TTTTGA/CGTTTG 1 -- int10--------
    rs1482727211,2
    C--23102532(+) CAAAAC/TACCTA 1 -- ut310--------
    rs795926961,2
    C--23102681(+) GCCCAA/TATGTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TTBK2 (43030932 - 43213007 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for TTBK2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668443CNV Deletion23128226
    esv2667428CNV Deletion23128226
    nsv94744CNV Loss16902084
    nsv904135CNV Loss21882294
    nsv525461CNV Loss19592680
    nsv457122CNV Loss19166990
    nsv904134CNV Gain21882294
    nsv528725CNV Gain19592680
    nsv515876CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): TTBK2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TTBK2
    DNA2.0 Custom Variant and Variant Library Synthesis for TTBK2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611695   
    OMIM disorders: 604432  
    UniProtKB/Swiss-Prot: TTBK2_HUMAN, Q6IQ55
  • 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 5 diseases for TTBK2:    
    About MalaCards
    spinocerebellar ataxia type11    spinocerebellar ataxia type 11    congenital dyserythropoietic anemia type i    spinocerebellar ataxia
    ataxia

    3 diseases from the University of Copenhagen DISEASES database for TTBK2:
    Spinocerebellar ataxia     dentatorubral-pallidoluysian atrophy     Cerebellar ataxia

    Find genes that share disorders with TTBK2           About GenesLikeMe

    GeneTests: TTBK2
    GeneReviews: TTBK2
    Genetic Association Database (GAD): TTBK2
    Human Genome Epidemiology (HuGE) Navigator: TTBK2 (3 documents)

    Export disorders for TTBK2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TTBK2 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with TTBK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Missense exchanges in the TTBK2 gene mutated in SCA11. (PubMed id 19533200)1, 2, 4, 9 Edener U.... Zuhlke C. (J. Neurol. 2009)
    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. (PubMed id 10048485)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1998)
    3. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. (PubMed id 18037885)1, 2, 9 Houlden H.... Wood N.W. (Nat. Genet. 2007)
    4. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. (PubMed id 22863007)1, 2 Chaki M....Hildebrandt F. (Cell 2012)
    5. The spinocerebellar ataxia-associated gene tau tubulin kinase 2 controls the initiation of ciliogenesis. (PubMed id 23141541)1, 2 Goetz S.C.... Anderson K.V. (Cell 2012)
    6. Spinocerebellar ataxia type 11 in the Chinese Han population. (PubMed id 19768375)1, 4 Xu Q....Tang B. (Neurol. Sci. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Expression, purification and crystallization of a human tau-tubulin kinase 2 that phosphorylates tau protein. (PubMed id 17620722)1, 9 Kitano-Takahashi M....Kohno T. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 146057 HGNC: 19141 AceView: TTBK2 Ensembl:ENSG00000128881 euGenes: HUgn146057
    ECgene: TTBK2 H-InvDB: TTBK2

    (According to HUGE)
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    HUGE: KIAA0847

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TTBK2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TTBK2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TTBK2 gene:
    Search GeneIP for patents involving TTBK2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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