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

Gene ID: 146057, updated on 18-Oct-2014
Official Symbol
TTBK2provided by HGNC
Official Full Name
tau tubulin kinase 2provided by HGNC
Primary source
HGNC:HGNC:19141
See related
HPRD:10288; MIM:611695
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]
See TTBK2 in Epigenomics, MapViewer
Location:
15q15.2
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 15 NC_000015.10 (42743953..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 uncharacterized LOC102724445 Neighboring gene codanin 1 Neighboring gene keratin, type II cytoskeletal 8-like 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?

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
 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
 
Process Evidence Code Pubs
cell death IEA
Inferred from Electronic Annotation
more info
 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
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
 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
tau-tubulin kinase 2
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 

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

mRNA and Protein(s)

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

    See proteins identical to 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
    cd00180
    Location:27219
    PKc; Catalytic domain of Protein Kinases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

    Range
    42743953..42920995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720402.1XP_006720465.1  

    Conserved Domains (1) summary
    cd00180
    Location:70214
    PKc; Catalytic domain of Protein Kinases
  2. XM_005254173.2XP_005254230.1  

    Conserved Domains (1) summary
    cd00180
    Location:6150
    PKc; Catalytic domain of Protein Kinases
  3. XM_005254171.2XP_005254228.1  

    Conserved Domains (1) summary
    cd00180
    Location:81225
    PKc; Catalytic domain of Protein Kinases
  4. XM_006720403.1XP_006720466.1  

    Conserved Domains (1) summary
    cd00180
    Location:6150
    PKc; Catalytic domain of Protein Kinases

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    19885126..20061358
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

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