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TTBK2 tau tubulin kinase 2 [ Homo sapiens (human) ]

Gene ID: 146057, updated on 18-Jul-2015
Official Symbol
TTBK2provided by HGNC
Official Full Name
tau tubulin kinase 2provided by HGNC
Primary source
HGNC:HGNC:19141
See related
Ensembl:ENSG00000128881; HPRD:10288; MIM:611695; Vega:OTTHUMG00000175802
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TTBK; SCA11
Summary
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]
Orthologs
See TTBK2 in Epigenomics, MapViewer
Location:
15q15.2
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (42738734..42921007, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43030928..43213037, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4E binding protein 2 pseudogene 2 Neighboring gene StAR-related lipid transfer (START) domain containing 9 Neighboring gene codanin 1 Neighboring gene keratin, type II cytoskeletal 8 pseudogene Neighboring gene farnesyl diphosphate synthase pseudogene 4 Neighboring gene ubiquitin protein ligase E3 component n-recognin 1

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemThe primary cilium is a microtubule-based organelle that is present on differentiated cells of nearly all eukaryotes. Cilium biogenesis is initiated by the docking of basal bodies, a centriole-derive...
  • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
    Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0847

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
organelle organization TAS
Traceable Author Statement
more info
 
peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell shape IBA
Inferred from Biological aspect of Ancestor
more info
 
smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
centriole IEA
Inferred from Electronic Annotation
more info
 
ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary transition zone ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
tau-tubulin kinase 2
NP_775771.3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012664.1 RefSeqGene

    Range
    5001..181472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_173500.3NP_775771.3  tau-tubulin kinase 2

    See identical proteins and their annotated locations for NP_775771.3

    Status: REVIEWED

    Source sequence(s)
    AB020654, AF525400, BC041876, BC071556, CB242184
    Consensus CDS
    CCDS42029.1
    UniProtKB/Swiss-Prot
    Q6IQ55
    UniProtKB/TrEMBL
    Q8IWY7
    Conserved Domains (1) summary
    cd14129
    Location:20281
    STKc_TTBK2; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    42738734..42921007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720402.2XP_006720465.1  

    Conserved Domains (1) summary
    cl21453
    Location:64276
    PKc_like; Protein Kinases, catalytic domain
  2. XM_005254173.3XP_005254230.1  

    Related
    ENSP00000267890, OTTHUMP00000254145, ENST00000267890, OTTHUMT00000431106
    Conserved Domains (1) summary
    cl21453
    Location:4212
    PKc_like; Protein Kinases, catalytic domain
  3. XM_011521268.1XP_011519570.1  

    Conserved Domains (1) summary
    cl21453
    Location:75185
    PKc_like; Protein Kinases, catalytic domain
  4. XM_005254171.3XP_005254228.1  

    Conserved Domains (1) summary
    cl21453
    Location:75287
    PKc_like; Protein Kinases, catalytic domain
  5. XM_006720403.2XP_006720466.1  

    See identical proteins and their annotated locations for XP_006720466.1

    Conserved Domains (1) summary
    cl21453
    Location:2212
    PKc_like; Protein Kinases, catalytic domain
  6. XM_011521267.1XP_011519569.1  

    See identical proteins and their annotated locations for XP_011519569.1

    Conserved Domains (1) summary
    cl21453
    Location:2212
    PKc_like; Protein Kinases, catalytic domain
  7. XM_011521269.1XP_011519571.1  

    Conserved Domains (1) summary
    cl21453
    Location:1188
    PKc_like; Protein Kinases, catalytic domain

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    43154908..43331376
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)