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

Gene ID: 146057, updated on 5-Aug-2022

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; AllianceGenome:HGNC:19141
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
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Genomic context

See TTBK2 in Genome Data Viewer
Location:
15q15.2
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (42738730..42921000, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (40545862..40727909, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43030928..43212976, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene StAR related lipid transfer domain containing 9 Neighboring gene small nucleolar RNA U13 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables kinesin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables microtubule plus-end binding TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein serine/threonine kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables tau protein binding NAS
Non-traceable Author Statement
more info
PubMed 
enables tau-protein kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables tau-protein kinase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in cerebellar granular layer development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cerebellar granule cell precursor tangential migration ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cerebellum development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in microtubule cytoskeleton organization IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of microtubule depolymerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of protein localization to microtubule IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell migration IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary transition zone ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular space HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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_047288145.1
XP_047288146.1
XP_047288147.1
XP_047288148.1

NCBI Reference Sequences (RefSeq)

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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_173500.4NP_775771.3  tau-tubulin kinase 2

    See identical proteins and their annotated locations for NP_775771.3

    Status: REVIEWED

    Source sequence(s)
    AB020654, AC090510, AF525400, BC041876, BC071556, CB242184
    Consensus CDS
    CCDS42029.1
    UniProtKB/Swiss-Prot
    Q6IQ55, Q8IVV1
    UniProtKB/TrEMBL
    Q8IWY7
    Related
    ENSP00000267890.6, ENST00000267890.11
    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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    42738730..42921000 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720402.5XP_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
  2. XM_047432189.1XP_047288145.1  tau-tubulin kinase 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8IVV1
  3. XM_005254173.6XP_005254230.1  tau-tubulin kinase 2 isoform X6

    Conserved Domains (2) summary
    COG0515
    Location:3192
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:4212
    PKc_like; Protein Kinases, catalytic domain
  4. XM_005254171.6XP_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
  5. XM_047432191.1XP_047288147.1  tau-tubulin kinase 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8IVV1
  6. XM_047432190.1XP_047288146.1  tau-tubulin kinase 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8IVV1
  7. XM_006720403.5XP_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_017021950.3XP_016877439.1  tau-tubulin kinase 2 isoform X5

    Conserved Domains (2) summary
    COG0515
    Location:3168
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:1188
    PKc_like; Protein Kinases, catalytic domain
  9. XM_047432192.1XP_047288148.1  tau-tubulin kinase 2 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    40545862..40727909 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)