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

Gene ID: 146057, updated on 18-Aug-2018

Summary

Official Symbol
TTBK2provided by HGNC
Official Full Name
tau tubulin kinase 2provided by HGNC
Primary source
HGNC:HGNC:19141
See related
Ensembl:ENSG00000128881 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]
Expression
Broad expression in testis (RPKM 9.5), brain (RPKM 5.6) and 24 other tissues See more
Orthologs

Genomic context

See TTBK2 in Genome Data Viewer
Location:
15q15.2
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (42738974..42920995, 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 domain containing 9 Neighboring gene codanin 1 Neighboring gene keratin 8 pseudogene 50 Neighboring gene farnesyl diphosphate synthase pseudogene 4 Neighboring gene ubiquitin protein ligase E3 component n-recognin 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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 biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0847

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
kinesin binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule plus-end binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
tau-protein kinase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cerebellar granular layer development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cerebellar granule cell precursor tangential migration ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cerebellum development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule cytoskeleton organization IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of microtubule depolymerization IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein localization to microtubule IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-threonine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell migration IGI
Inferred from Genetic Interaction
more info
PubMed 
smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
ciliary transition zone ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tau-tubulin kinase 2
NP_775771.3
XP_005254228.1
XP_005254230.1
XP_006720465.1
XP_006720466.1
XP_016877439.1
XP_024305617.1
XP_024305618.1
XP_024305619.1

NCBI Reference Sequences (RefSeq)

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
    Related
    ENSP00000267890.6, OTTHUMP00000254145, ENST00000267890.10, OTTHUMT00000431106
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    42738974..42920995 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254171.5XP_005254228.1  tau-tubulin kinase 2 isoform X1

    Conserved Domains (2) summary
    COG0515
    Location:78267
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:75287
    PKc_like; Protein Kinases, catalytic domain
  2. XM_006720402.4XP_006720465.1  tau-tubulin kinase 2 isoform X3

    Conserved Domains (2) summary
    COG0515
    Location:67256
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:64276
    PKc_like; Protein Kinases, catalytic domain
  3. XM_024449850.1XP_024305618.1  tau-tubulin kinase 2 isoform X2

    Conserved Domains (1) summary
    cd14129
    Location:20281
    STKc_TTBK2; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 2
  4. XM_005254173.5XP_005254230.1  tau-tubulin kinase 2 isoform X5

    Conserved Domains (2) summary
    COG0515
    Location:3192
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:4212
    PKc_like; Protein Kinases, catalytic domain
  5. XM_024449851.1XP_024305619.1  tau-tubulin kinase 2 isoform X4

    Conserved Domains (1) summary
    cl21453
    Location:2212
    PKc_like; Protein Kinases, catalytic domain
  6. XM_024449849.1XP_024305617.1  tau-tubulin kinase 2 isoform X2

    Conserved Domains (1) summary
    cd14129
    Location:20281
    STKc_TTBK2; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 2
  7. XM_006720403.4XP_006720466.1  tau-tubulin kinase 2 isoform X4

    See identical proteins and their annotated locations for XP_006720466.1

    Conserved Domains (1) summary
    cl21453
    Location:2212
    PKc_like; Protein Kinases, catalytic domain
  8. XM_017021950.2XP_016877439.1  tau-tubulin kinase 2 isoform X6

    Conserved Domains (2) summary
    COG0515
    Location:3168
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:1188
    PKc_like; Protein Kinases, catalytic domain
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