TTBK2 tau tubulin kinase 2 [Homo sapiens] - Gene

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Summary

Official Symbol: TTBK2provided by HGNC
Official Full Name: tau tubulin kinase 2provided by HGNC
Primary source: HGNC:19141
See related: Ensembl:ENSG00000128881; HPRD:10288; 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; KIAA0847
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]

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Genomic context

Location :: 15q15.2

Sequence :: Chromosome: 15; NC_000015.9 (43036536..43213007, complement)

See TTBK2 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

two-basepair deletion (c.1306_1307delGA, p.D435fs448X in exon 12) lead to a premature stop codon in the TTBK2 gene; spinocerebellar ataxia patients had phenotypic of slowly progressive almost pure cerebellar ataxia with normal life expectancy
Title: Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Examination the TTBK2 gene in 68 unrelated spinocerebellar ataxia patients displayed the normal elution profile, which denoted that no disease-related mutation was identified. We provided the evidence that SCA11 is a rare form of ataxia in China.
Title: Spinocerebellar ataxia type 11 in the Chinese Han population.
that SCA11 is an extremely rare cause for dominantly inherited ataxias (TTBK2) in the German population.
Title: Missense exchanges in the TTBK2 gene mutated in SCA11.
Observational study of gene-disease association. (HuGE Navigator)
Title: Spinocerebellar ataxia type 11 in the Chinese Han population.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration.
Title: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

Submit: New GeneRIF Correction

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features, peripheral neuropathy, and dystonia are seen on occasion. Only two families have been reported to date. In them, age of onset ranged from the early teens to the mid 20s. Life span is normal.

Diagnosis Testing

Diagnosis is based on clinical findings and the presence of a mutation in TTBK2, the only gene currently known to be associated with SCA11. Molecular genetic testing is available on a clinical basis.

Genetic Counseling

SCA11 is inherited in an autosomal dominant manner. The rate of de novo mutations is not known. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. No laboratories listed in the GeneTests Laboratory Directory offer molecular genetic testing for prenatal diagnosis of SCA11; however, such testing may be available through laboratories offering custom prenatal testing to families in which the disease-causing mutation is known.

References

PMID: 20301723

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Interactions

Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:126962	BioGRID:218936	Esco1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:126962	BioGRID:111700	PTEN	BioGRID	PubMed	Affinity Capture-MS
BioGRID:126962	BioGRID:124159	TTBK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:126962	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:126962	BioGRID:116303	ZWINT	BioGRID	PubMed	Affinity Capture-MS

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General gene information

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

Genotypes

See TTBK2 SNP Geneview Report
See TTBK2 SNP Genotype Report
See TTBK2 SNP Variation Viewer Report

Homology

Homologs of the TTBK2 gene: The TTBK2 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein kinase activity	IEA Inferred from Electronic Annotation more info
protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell death	IEA Inferred from Electronic Annotation more info
peptidyl-serine phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
keratin filament	IEA Inferred from Electronic Annotation more info

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General protein information

Preferred Names: tau-tubulin kinase 2

Names: tau-tubulin kinase 2

NP_775771.3

EC 2.7.11.1

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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

NG_012664.1 RefSeqGene

Range

5001..181472

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AB020654, AF525400, BC041876, BC071556, CB242184

Consensus CDS

CCDS42029.1

UniProtKB/Swiss-Prot

Q6IQ55

UniProtKB/TrEMBL

Q8IWY7

Related

ENSP00000267890, OTTHUMP00000254145, ENST00000267890, OTTHUMT00000431106

Conserved Domains (2) summary

PHA02882
Location:19 – 281
Blast Score: 235

PHA02882; putative serine/threonine kinase; Provisional

cd00180
Location:27 – 219
Blast Score: 346

PKc; Catalytic domain of Protein Kinases

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

43036536..43213007, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

19885126..20061358, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC068727.8 (47930..175807)	None
genomic	AC090510.4 (106551..148294)	None
genomic	AC090514.1 (11505..17062)	None
genomic	CH471125.1	EAW92581.1
		EAW92582.1
		EAW92583.1
mRNA	AB020654.1	BAA74870.1
mRNA	AF525400.1	AAO14996.1
mRNA	AK131372.1	BAD18523.1
mRNA	BC041876.1	AAH41876.1
mRNA	BC071556.1	AAH71556.1
mRNA	CB242184.1	None