Ttbk2 tau tubulin kinase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ttbk2provided by MGI
Official Full Name: tau tubulin kinase 2provided by MGI
Primary source: MGI:MGI:2155779
See related: Ensembl:ENSMUSG00000090100 AllianceGenome:MGI:2155779
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: TTK; Ttbk; Ttbk1; mKIAA0847; 2610507N02Rik; B930008N24Rik
Summary: Enables protein serine/threonine kinase activity. Involved in cilium assembly; hindbrain development; and smoothened signaling pathway. Acts upstream of or within several processes, including embryonic brain development; nervous system development; and positive regulation of non-motile cilium assembly. Located in ciliary base; ciliary transition zone; and microtubule organizing center. Is expressed in several structures, including nervous system. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 11. Orthologous to human TTBK2 (tau tubulin kinase 2). [provided by Alliance of Genome Resources, Dec 2024]
Annotation information: Note: This record was renamed from Ttbk1 to Ttbk2 to conform to the annotation of human. [11 Apr 2007]
Expression: Broad expression in testis adult (RPKM 17.3), cerebellum adult (RPKM 7.9) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 60.37 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (120563297..120681111, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (120732816..120850584, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms.
Title: Mechanisms of Regulation and Diverse Activities of Tau-Tubulin Kinase (TTBK) Isoforms.
TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons.
Title: TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons.
Study shows that TTBK2 is a dedicated regulator of the initiation of ciliogenesis in vivo; TTBK2 acts at the distal end of the basal body, where it promotes the removal of CP110, which caps the mother centriole, and promotes recruitment of intraflagellar transport proteins.
Title: The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2)
Gene trapped (1)
Targeted (3) 1 citation

General gene information

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Markers

AV039307 (e-PCR)
- UniSTS:165196

D19278 (e-PCR)
- UniSTS:124800

D2Dcr35 (e-PCR), detects polymorphism
- UniSTS:142309

AI326283 (e-PCR)
- UniSTS:178683

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables kinesin binding	ISO Inferred from Sequence Orthology more info
enables protein kinase activity	ISO Inferred from Sequence Orthology more info
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
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cerebellar granular layer development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebellar granule cell precursor tangential migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebellum development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of microtubule binding	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of microtubule depolymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein localization to microtubule	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-serine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to organelle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

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
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary base	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: tau-tubulin kinase 2

Names: protein bartleby

NP_001020027.1

EC 2.7.11.1

NP_001020028.1

EC 2.7.11.1

NP_542966.2

EC 2.7.11.1

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.

mRNA and Protein(s)

NM_001024856.3 → NP_001020027.1 tau-tubulin kinase 2 isoform 2

See identical proteins and their annotated locations for NP_001020027.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has a different 5' end exon compared to transcript variant 1. It encodes an isoform (2) that is shorter and with a distinct N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.

Source sequence(s)

AL935168

Consensus CDS

CCDS16627.1

UniProtKB/Swiss-Prot

A2AW12, Q3TSR6, Q3UFW0, Q3UVR3, Q571D1, Q8BKA4, Q924U8

Related

ENSMUSP00000083001.5, ENSMUST00000085840.11

Conserved Domains (2) summary

cd14129
Location:20 → 281

STKc_TTBK2; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 2

pfam00069
Location:21 → 260

Pkinase; Protein kinase domain
NM_001024857.3 → NP_001020028.1 tau-tubulin kinase 2 isoform 2

See identical proteins and their annotated locations for NP_001020028.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) is missing a non-coding exon compared to transcript variant 2. Both variants encode the same isoform (2).

Source sequence(s)

AL935168

Consensus CDS

CCDS16627.1

UniProtKB/Swiss-Prot

A2AW12, Q3TSR6, Q3UFW0, Q3UVR3, Q571D1, Q8BKA4, Q924U8

Related

ENSMUSP00000055032.8, ENSMUST00000057135.14

Conserved Domains (2) summary

cd14129
Location:20 → 281

STKc_TTBK2; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 2

pfam00069
Location:21 → 260

Pkinase; Protein kinase domain
NM_080788.4 → NP_542966.2 tau-tubulin kinase 2 isoform 1

See identical proteins and their annotated locations for NP_542966.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL935168

Consensus CDS

CCDS16626.1

UniProtKB/TrEMBL

A2AW15

Related

ENSMUSP00000028740.5, ENSMUST00000028740.11

Conserved Domains (2) summary

cd14129
Location:89 → 350

STKc_TTBK2; Catalytic domain of the Serine/Threonine protein kinase, Tau-Tubulin Kinase 2

pfam00069
Location:90 → 329

Pkinase; Protein kinase domain