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TTBK2 (tau tubulin kinase 2)

Identity

Alias_namesSCA11
spinocerebellar ataxia 11
Alias_symbol (synonym)KIAA0847
Other aliasTTBK
HGNC (Hugo) TTBK2
LocusID (NCBI) 146057
Atlas_Id 43548
Location 15q15.2  [Link to chromosome band 15q15]
Location_base_pair Starts at 42744346 and ends at 42920809 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  146057  tau tubulin kinase 2
AliasesSCA11; TTBK
GeneCards (Weizmann)TTBK2
Ensembl hg19 (Hinxton)ENSG00000128881 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128881 [Gene_View]  chr15:42744346-42920809 [Contig_View]  TTBK2 [Vega]
ICGC DataPortalENSG00000128881
TCGA cBioPortalTTBK2
AceView (NCBI)TTBK2
Genatlas (Paris)TTBK2
WikiGenes146057
SOURCE (Princeton)TTBK2
Genetics Home Reference (NIH)TTBK2
Genomic and cartography
GoldenPath hg38 (UCSC)TTBK2  -     chr15:42744346-42920809 -  15q15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TTBK2  -     15q15.2   [Description]    (hg19-Feb_2009)
EnsemblTTBK2 - 15q15.2 [CytoView hg19]  TTBK2 - 15q15.2 [CytoView hg38]
Mapping of homologs : NCBITTBK2 [Mapview hg19]  TTBK2 [Mapview hg38]
OMIM604432   611695   
Gene and transcription
Genbank (Entrez)AB020654 AF525400 AK074481 AK131372 BC041876
RefSeq transcript (Entrez)NM_173500
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TTBK2
Cluster EST : UnigeneHs.733489 [ NCBI ]
CGAP (NCI)Hs.733489
Alternative Splicing GalleryENSG00000128881
Gene ExpressionTTBK2 [ NCBI-GEO ]   TTBK2 [ EBI - ARRAY_EXPRESS ]   TTBK2 [ SEEK ]   TTBK2 [ MEM ]
Gene Expression Viewer (FireBrowse)TTBK2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Splice isoforms : SwissVarQ6IQ55
PhosPhoSitePlusQ6IQ55
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)   
Domains : Interpro (EBI)Kinase-like_dom    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
DMDM Disease mutations146057
Blocks (Seattle)TTBK2
SuperfamilyQ6IQ55
Human Protein Atlas [tissue]ENSG00000128881-TTBK2 [tissue]
Peptide AtlasQ6IQ55
HPRD10288
IPIIPI00217145   IPI00743694   IPI00743279   IPI00217437   
Protein Interaction databases
DIP (DOE-UCLA)Q6IQ55
IntAct (EBI)Q6IQ55
FunCoupENSG00000128881
BioGRIDTTBK2
STRING (EMBL)TTBK2
ZODIACTTBK2
Ontologies - Pathways
QuickGOQ6IQ55
Ontology : AmiGOprotein serine/threonine kinase activity  protein binding  ATP binding  extracellular space  nucleus  centriole  cytosol  cytosol  smoothened signaling pathway  regulation of cell shape  peptidyl-serine phosphorylation  ciliary transition zone  ciliary transition zone  ciliary basal body  cilium assembly  cilium assembly  ciliary basal body docking  
Ontology : EGO-EBIprotein serine/threonine kinase activity  protein binding  ATP binding  extracellular space  nucleus  centriole  cytosol  cytosol  smoothened signaling pathway  regulation of cell shape  peptidyl-serine phosphorylation  ciliary transition zone  ciliary transition zone  ciliary basal body  cilium assembly  cilium assembly  ciliary basal body docking  
NDEx NetworkTTBK2
Atlas of Cancer Signalling NetworkTTBK2
Wikipedia pathwaysTTBK2
Orthology - Evolution
OrthoDB146057
GeneTree (enSembl)ENSG00000128881
Phylogenetic Trees/Animal Genes : TreeFamTTBK2
HOVERGENQ6IQ55
HOGENOMQ6IQ55
Homologs : HomoloGeneTTBK2
Homology/Alignments : Family Browser (UCSC)TTBK2
Gene fusions - Rearrangements
Fusion : MitelmanTTBK2/TGM7 [15q15.2/15q15.2]  
Fusion: TCGATTBK2 15q15.2 TGM7 15q15.2 PRAD
Fusion: Tumor Portal TTBK2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTTBK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TTBK2
dbVarTTBK2
ClinVarTTBK2
1000_GenomesTTBK2 
Exome Variant ServerTTBK2
ExAC (Exome Aggregation Consortium)ENSG00000128881
GNOMAD BrowserENSG00000128881
Genetic variants : HAPMAP146057
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]  
Mutations and Diseases : HGMDTTBK2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TTBK2
DgiDB (Drug Gene Interaction Database)TTBK2
DoCM (Curated mutations)TTBK2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TTBK2 (select a term)
intoGenTTBK2
Cancer3DTTBK2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604432    611695   
Orphanet13784   
MedgenTTBK2
Genetic Testing Registry TTBK2
NextProtQ6IQ55 [Medical]
TSGene146057
GENETestsTTBK2
Target ValidationTTBK2
Huge Navigator TTBK2 [HugePedia]
snp3D : Map Gene to Disease146057
BioCentury BCIQTTBK2
ClinGenTTBK2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD146057
Chemical/Pharm GKB GenePA134913925
Clinical trialTTBK2
Miscellaneous
canSAR (ICR)TTBK2 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTTBK2
EVEXTTBK2
GoPubMedTTBK2
iHOPTTBK2
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 Nov 9 13:16:00 CET 2017

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