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

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: mouse all
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Genomic context

Location:: 15q15.2

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (42738730..42921000, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (40545862..40728127, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (43030928..43212976, complement)

Chromosome 15 - NC_000015.10 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

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
Title: A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
Title: Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis.
Title: Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis.
Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.
Title: Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.
A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.
Title: A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.
Circular RNA TTBK2 regulates cell proliferation, invasion and ferroptosis via miR-761/ITGB8 axis in glioma.
Title: Circular RNA TTBK2 regulates cell proliferation, invasion and ferroptosis via miR-761/ITGB8 axis in glioma.
Phosphorylation of multiple proteins involved in ciliogenesis by Tau Tubulin kinase 2.
Title: Phosphorylation of multiple proteins involved in ciliogenesis by Tau Tubulin kinase 2.
Circular RNA TTBK2 promotes the development of human glioma cells via miR-520b/EZH2 axis.
Title: Circular RNA TTBK2 promotes the development of human glioma cells via miR-520b/EZH2 axis.
The TTBK2-dependent CEP83 phosphorylation is important for early ciliogenesis steps, including ciliary vesicle docking and CP110 removal.
Title: Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation.
Spinocerebellar ataxia type 11 (SCA11)-associated mutations are dominant negative alleles and the resulting truncated protein (TTBK2SCA11) interferes with the function of full length TTBK2 in mediating ciliogenesis.
Title: Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spinocerebellar ataxia type 11 MedGen: C1858351 OMIM: 604432 GeneReviews: Hereditary Ataxia Overview, Spinocerebellar Ataxia Type 11	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S1016 (e-PCR), detects polymorphism
- UniSTS:45623

RH44835 (e-PCR)
- UniSTS:65125

SHGC-81108 (e-PCR)
- UniSTS:103332

D15S146 (e-PCR), detects polymorphism
- UniSTS:51370

D15S749 (e-PCR)
- UniSTS:151741

D15S753 (e-PCR)
- UniSTS:151745

D15S765 (e-PCR)
- UniSTS:151757

RH93724 (e-PCR)
- UniSTS:88789

D15S780 (e-PCR)
- UniSTS:151778

Gene Ontology Provided by GOA

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	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
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 ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info
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 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
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	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
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
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
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
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 more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tau-tubulin kinase 2

NP_775771.3

EC 2.7.11.1

XP_005254228.1

EC 2.7.11.1

XP_005254230.1

EC 2.7.11.1

XP_006720465.1

EC 2.7.11.1

XP_006720466.1

EC 2.7.11.1

XP_016877439.1

EC 2.7.11.1

XP_047288145.1

EC 2.7.11.1

XP_047288146.1

EC 2.7.11.1

XP_047288147.1

EC 2.7.11.1

XP_047288148.1

EC 2.7.11.1

XP_054233329.1

EC 2.7.11.1

XP_054233330.1

EC 2.7.11.1

XP_054233331.1

EC 2.7.11.1

XP_054233332.1

EC 2.7.11.1

XP_054233333.1

EC 2.7.11.1

XP_054233334.1

EC 2.7.11.1

XP_054233335.1

EC 2.7.11.1

XP_054233336.1

EC 2.7.11.1

XP_054233337.1

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.

Genomic

NG_012664.1 RefSeqGene

Range

5001..181472

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_173500.4 → NP_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

O94932, Q6IQ55, Q6ZN52, Q8IVV1

Related

ENSP00000267890.6, ENST00000267890.11

Conserved Domains (1) summary

cd14129
Location:20 → 281

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

42738730..42921000 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006720402.5 → XP_006720465.1 tau-tubulin kinase 2 isoform X3

Conserved Domains (2) summary

COG0515
Location:67 → 256

SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]

cl21453
Location:64 → 276

PKc_like; Protein Kinases, catalytic domain
XM_047432189.1 → XP_047288145.1 tau-tubulin kinase 2 isoform X2

UniProtKB/Swiss-Prot

O94932, Q6IQ55, Q6ZN52, Q8IVV1
XM_005254173.6 → XP_005254230.1 tau-tubulin kinase 2 isoform X6

Conserved Domains (2) summary

COG0515
Location:3 → 192

SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]

cl21453
Location:4 → 212

PKc_like; Protein Kinases, catalytic domain
XM_005254171.6 → XP_005254228.1 tau-tubulin kinase 2 isoform X1

Conserved Domains (2) summary

COG0515
Location:78 → 267

SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]

cl21453
Location:75 → 287

PKc_like; Protein Kinases, catalytic domain
XM_047432191.1 → XP_047288147.1 tau-tubulin kinase 2 isoform X2

UniProtKB/Swiss-Prot

O94932, Q6IQ55, Q6ZN52, Q8IVV1
XM_047432190.1 → XP_047288146.1 tau-tubulin kinase 2 isoform X2

UniProtKB/Swiss-Prot

O94932, Q6IQ55, Q6ZN52, Q8IVV1
XM_006720403.5 → XP_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:2 → 212

PKc_like; Protein Kinases, catalytic domain
XM_017021950.3 → XP_016877439.1 tau-tubulin kinase 2 isoform X5

Conserved Domains (2) summary

COG0515
Location:3 → 168

SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]

cl21453
Location:1 → 188

PKc_like; Protein Kinases, catalytic domain
XM_047432192.1 → XP_047288148.1 tau-tubulin kinase 2 isoform X7