TTBK2 - tau tubulin kinase 2 Gene

Also Known as TTBK; SCA11

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 146057

About TTBK2

Cytogenetic location: 15q15.2 Genomic coordinates (GRCh38): 15:42,738,730-42,921,000 (from NCBI)

This gene has 7 transcripts (splice variants), 192 orthologues, 12 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 9.5), brain (RPKM 5.6) and 24 other tissues.

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]

TTBK2 Products (1)

mRNA	Protein	Name
NM_173500.4	NP_775771.3	tau-tubulin kinase 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables kinesin binding	IPI IPI: Inferred from physical interaction	26323690	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22863007	GOA
enables protein kinase activity	IDA IDA: Inferred from direct assay	26323690	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	21548880	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	23141541	GOA
involved in microtubule cytoskeleton organization	IGI IGI: Inferred from genetic interaction	26323690	GOA
involved in negative regulation of microtubule binding	IDA IDA: Inferred from direct assay	26323690	GOA
involved in negative regulation of microtubule depolymerization	IDA IDA: Inferred from direct assay	26323690	GOA
involved in negative regulation of protein localization to microtubule	IMP IMP: Inferred from mutant phenotype	26323690	GOA
involved in peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	21548880	GOA
involved in regulation of cell migration	IGI IGI: Inferred from genetic interaction	26323690	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in centriole	IDA IDA: Inferred from direct assay	23141541	GOA
located in ciliary transition zone	IDA IDA: Inferred from direct assay	23141541	GOA
located in cytosol	IDA IDA: Inferred from direct assay	21548880	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21548880	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TTBK2 Protein Structure

Pkinase

0
200
400
600
800
1000
1244 a.a.

Protein Preferred Names	Protein Names
tau-tubulin kinase 2

TTBK2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	TTBK2	Q6IQ55	CEP164	Homo sapiens	Q9UPV0	Anti Tag CoIP	22863007
Intra	TTBK2	Q6IQ55	CEP164	Homo sapiens	Q9UPV0	Y2H	22863007
Intra	TTBK2	Q6IQ55	CEP164	Homo sapiens	Q9UPV0	Pull Down	22863007
Intra	TTBK2	Q6IQ55	KLHL12	Homo sapiens	Q53G59	Y2H Array	32296183
Intra	TTBK2	Q6IQ55	KLHL12	Homo sapiens	Q53G59	Y2H Prey Pooling	32296183
Intra	TTBK2	Q6IQ55	KLHL12	Homo sapiens	Q53G59	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 11	Spinocerebellar Ataxia Type 11 SCA11 Spinocerebellar Ataxia-11 Ataxia, Spinocerebellar, Type 11
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Spinocerebellar Ataxia 40	Spinocerebellar Ataxia Type 40 SCA40 Ataxia, Spinocerebellar, Type 40
Cerebellar Ataxia Type 43	Sca43
Nephronophthisis 18	NPHP18 Nephronophthisis, Type 18
Nephronophthisis 15	NPHP15 Nephronophthisis, Type 15
Cerebellar Ataxia Type 41	Sca41
Spinocerebellar Ataxia 35	Spinocerebellar Ataxia Type 35 SCA35 Ataxia, Spinocerebellar, Type 35
Spastic Paraplegia 8, Autosomal Dominant	SPG8 Hereditary Spastic Paraplegia 8 Autosomal Dominant Spastic Paraplegia Type 8 Autosomal Dominant Spastic Paraplegia 8 Paraplegia, Spastic, Autosomal Dominant, Type 8
Spinocerebellar Ataxia 25	Spinocerebellar Ataxia Type 25 SCA25
Spinocerebellar Ataxia, X-Linked 1	X-Linked Progressive Cerebellar Ataxia SCAX1 Opcax X-Linked Spinocerebellar Ataxia 1 Olivopontocerebellar Atrophy, X-Linked Opca, X-Linked Olivopontocerebellar Atrophy X-Linked Opca X-Linked Ataxia, Spinocerebellar, X-Linked Type 1
Spinocerebellar Ataxia 30	Spinocerebellar Ataxia Type 30 SCA30 Cerebellar Ataxia Early-Onset Nonprogressive Spinocerebellar Ataxia 29 Acv Aplasia Of Cerebellar Vermis Cerebellar Vermis Aplasia Congenital Nonprogressive Spinocerebellar Ataxia Sca29 Spinocerebellar Ataxia Type 29
Spinocerebellar Ataxia 13	Spinocerebellar Ataxia Type 13 SCA13 Autosomal Dominant Cerebellar Ataxia With Intellectual Disability Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability Spinocerebellar Ataxia-13 Ataxia, Spinocerebellar, Type 13
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders
Dentatorubral-Pallidoluysian Atrophy	DRPLA Naito-Oyanagi Disease Haw River Syndrome Myoclonic Epilepsy With Choreoathetosis Nod Ataxia, Chorea, Seizures, And Dementia Dentatorubropallidoluysian Atrophy Hrs Naito Oyanagi Disease Dentatorubral Pallidoluysian Atrophy Dentatorubro-Pallidoluysian Atrophy Myoclonic Epilepsies, Progressive Atrophy, Pallidoluysian, Dentatorubral
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Spastic Ataxia	Spax Ataxia, Spastic
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (9)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-120929	BI8622	Inhibitor	98.16%	Unkown
HY-172545	AMG28	Inhibitor	99.74%	Unkown
HY-172544	TTBK1/2-IN-3	Inhibitor	/	Unkown
HY-172542	TTBK1/2-IN-1	Inhibitor	/	Unkown
HY-172543	TTBK1/2-IN-2	Inhibitor	/	Unkown
HY-E70871	TTBK2 Recombinant Human Active Protein Kinase		/	Unkown
HY-RS15194	TTBK2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21071	Ttbk2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27588	Ttbk2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TTBK2	VGNC	VGNC:81598
Canis familiaris	TTBK2	VGNC	VGNC:47935
Rattus norvegicus	TTBK2	RGD	RGD:1311661
Bos taurus	TTBK2	VGNC	VGNC:36452
Mus musculus	TTBK2	MGD	MGI:2155779
Felis catus	TTBK2	VGNC	VGNC:80813
Others	TTBK2	NCBI