TTBK2 - tau tubulin kinase 2 Gene

Homo sapiens

Also known as TTBK; SCA11

Gene ID: 146057 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15194	TTBK2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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