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TTBK2 (tau tubulin kinase 2)

Identity

Alias (NCBI)SCA11
TTBK
HGNC (Hugo) TTBK2
HGNC Alias symbKIAA0847
HGNC Previous nameSCA11
HGNC Previous namespinocerebellar ataxia 11
LocusID (NCBI) 146057
Atlas_Id 43548
Location 15q15.2  [Link to chromosome band 15q15]
Location_base_pair Starts at 42738730 and ends at 42920778 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TTBK2 (15q15.2)::TGM7 (15q15.2)TTBK2 15q15.2::TGM7 15q15.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)TTBK2   19141
Cards
Entrez_Gene (NCBI)TTBK2    tau tubulin kinase 2
AliasesSCA11; TTBK
GeneCards (Weizmann)TTBK2
Ensembl hg19 (Hinxton)ENSG00000128881 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128881 [Gene_View]  ENSG00000128881 [Sequence]  chr15:42738730-42920778 [Contig_View]  TTBK2 [Vega]
ICGC DataPortalENSG00000128881
TCGA cBioPortalTTBK2
AceView (NCBI)TTBK2
Genatlas (Paris)TTBK2
SOURCE (Princeton)TTBK2
Genetics Home Reference (NIH)TTBK2
Genomic and cartography
GoldenPath hg38 (UCSC)TTBK2  -     chr15:42738730-42920778 -  15q15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TTBK2  -     15q15.2   [Description]    (hg19-Feb_2009)
GoldenPathTTBK2 - 15q15.2 [CytoView hg19]  TTBK2 - 15q15.2 [CytoView hg38]
ImmunoBaseENSG00000128881
Genome Data Viewer NCBITTBK2 [Mapview hg19]  
OMIM604432   611695   
Gene and transcription
Genbank (Entrez)AB020654 AF525400 AK074481 AK131372 BC041876
RefSeq transcript (Entrez)NM_173500
Consensus coding sequences : CCDS (NCBI)TTBK2
Gene ExpressionTTBK2 [ NCBI-GEO ]   TTBK2 [ EBI - ARRAY_EXPRESS ]   TTBK2 [ SEEK ]   TTBK2 [ MEM ]
Gene Expression Viewer (FireBrowse)TTBK2 [ Firebrowse - Broad ]
GenevisibleExpression of TTBK2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)146057
GTEX Portal (Tissue expression)TTBK2
Human Protein AtlasENSG00000128881-TTBK2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6IQ55   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6IQ55  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6IQ55
PhosPhoSitePlusQ6IQ55
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)   
Domains : Interpro (EBI)Kinase-like_dom_sf    Prot_kinase_dom    Protein_kinase_ATP_BS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)TTBK2
PDB (RSDB)6U0K    6VRF   
PDB Europe6U0K    6VRF   
PDB (PDBSum)6U0K    6VRF   
PDB (IMB)6U0K    6VRF   
Structural Biology KnowledgeBase6U0K    6VRF   
SCOP (Structural Classification of Proteins)6U0K    6VRF   
CATH (Classification of proteins structures)6U0K    6VRF   
SuperfamilyQ6IQ55
AlphaFold pdb e-kbQ6IQ55   
Human Protein Atlas [tissue]ENSG00000128881-TTBK2 [tissue]
HPRD10288
Protein Interaction databases
DIP (DOE-UCLA)Q6IQ55
IntAct (EBI)Q6IQ55
BioGRIDTTBK2
STRING (EMBL)TTBK2
ZODIACTTBK2
Ontologies - Pathways
QuickGOQ6IQ55
Ontology : AmiGOmicrotubule cytoskeleton organization  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine/tyrosine kinase activity  protein binding  ATP binding  extracellular space  nucleus  nucleus  cytoplasm  centriole  cytosol  cytosol  negative regulation of microtubule depolymerization  signal transduction  smoothened signaling pathway  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  kinesin binding  cerebellum development  cerebellar granular layer development  cerebellar granule cell precursor tangential migration  regulation of cell migration  ciliary transition zone  ciliary transition zone  ciliary transition zone  ciliary basal body  ciliary basal body  tau protein binding  tau-protein kinase activity  tau-protein kinase activity  microtubule plus-end binding  cilium assembly  cilium assembly  cilium assembly  protein serine kinase activity  negative regulation of protein localization to microtubule  negative regulation of microtubule binding  
Ontology : EGO-EBImicrotubule cytoskeleton organization  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine/tyrosine kinase activity  protein binding  ATP binding  extracellular space  nucleus  nucleus  cytoplasm  centriole  cytosol  cytosol  negative regulation of microtubule depolymerization  signal transduction  smoothened signaling pathway  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  kinesin binding  cerebellum development  cerebellar granular layer development  cerebellar granule cell precursor tangential migration  regulation of cell migration  ciliary transition zone  ciliary transition zone  ciliary transition zone  ciliary basal body  ciliary basal body  tau protein binding  tau-protein kinase activity  tau-protein kinase activity  microtubule plus-end binding  cilium assembly  cilium assembly  cilium assembly  protein serine kinase activity  negative regulation of protein localization to microtubule  negative regulation of microtubule binding  
NDEx NetworkTTBK2
Atlas of Cancer Signalling NetworkTTBK2
Wikipedia pathwaysTTBK2
Orthology - Evolution
OrthoDB146057
GeneTree (enSembl)ENSG00000128881
Phylogenetic Trees/Animal Genes : TreeFamTTBK2
Homologs : HomoloGeneTTBK2
Homology/Alignments : Family Browser (UCSC)TTBK2
Gene fusions - Rearrangements
Fusion : MitelmanTTBK2::TGM7 [15q15.2/15q15.2]  
Fusion : QuiverTTBK2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTTBK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TTBK2
dbVarTTBK2
ClinVarTTBK2
MonarchTTBK2
1000_GenomesTTBK2 
Exome Variant ServerTTBK2
GNOMAD BrowserENSG00000128881
Varsome BrowserTTBK2
ACMGTTBK2 variants
VarityQ6IQ55
Genomic Variants (DGV)TTBK2 [DGVbeta]
DECIPHERTTBK2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTTBK2 
Mutations
ICGC Data PortalTTBK2 
TCGA Data PortalTTBK2 
Broad Tumor PortalTTBK2
OASIS PortalTTBK2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTTBK2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTTBK2
Mutations and Diseases : HGMDTTBK2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTTBK2
DgiDB (Drug Gene Interaction Database)TTBK2
DoCM (Curated mutations)TTBK2
CIViC (Clinical Interpretations of Variants in Cancer)TTBK2
Cancer3DTTBK2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604432    611695   
Orphanet13784   
DisGeNETTTBK2
MedgenTTBK2
Genetic Testing Registry TTBK2
NextProtQ6IQ55 [Medical]
GENETestsTTBK2
Target ValidationTTBK2
Huge Navigator TTBK2 [HugePedia]
ClinGenTTBK2
Clinical trials, drugs, therapy
MyCancerGenomeTTBK2
Protein Interactions : CTDTTBK2
Pharm GKB GenePA134913925
PharosQ6IQ55
Clinical trialTTBK2
Miscellaneous
canSAR (ICR)TTBK2
HarmonizomeTTBK2
ARCHS4TTBK2
DataMed IndexTTBK2
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTTBK2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 13:04:42 CET 2022

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