1. Gene
  2. TTBK2 - tau tubulin kinase 2 Gene

TTBK2 - tau tubulin kinase 2 Gene

中文名称:tau 微管蛋白激酶 2

种属: Homo sapiens

同用名: TTBK; SCA11

基因 ID: 146057 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种丝氨酸-苏氨酸激酶,可使 tau 蛋白和微管蛋白磷酸化。该基因的突变会导致 11 型脊髓小脑性共济失调 (SCA11) ;一种以小脑和脑干进行性共济失调和萎缩为特征的神经退行性疾病。[RefSeq 提供,2009 年 8 月]

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 基因产物(1)

mRNA Protein Name
NM_173500.4 NP_775771.3 tau-tubulin kinase 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables kinesin binding IPI
IPI: 通过物理相互作用推断
26323690 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22863007 GOA
enables protein kinase activity IDA
IDA: 通过直接分析推断
26323690 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
21548880 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cilium assembly IMP
IMP: 通过突变表型推断
23141541 GOA
involved in microtubule cytoskeleton organization IGI
IGI: 通过遗传相互作用推断
26323690 GOA
involved in negative regulation of microtubule binding IDA
IDA: 通过直接分析推断
26323690 GOA
involved in negative regulation of microtubule depolymerization IDA
IDA: 通过直接分析推断
26323690 GOA
involved in negative regulation of protein localization to microtubule IMP
IMP: 通过突变表型推断
26323690 GOA
involved in peptidyl-serine phosphorylation IDA
IDA: 通过直接分析推断
21548880 GOA
involved in regulation of cell migration IGI
IGI: 通过遗传相互作用推断
26323690 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriole IDA
IDA: 通过直接分析推断
23141541 GOA
located in ciliary transition zone IDA
IDA: 通过直接分析推断
23141541 GOA
located in cytosol IDA
IDA: 通过直接分析推断
21548880 GOA
located in nucleus IDA
IDA: 通过直接分析推断
21548880 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TTBK2 蛋白结构

Pkinase

Pkinase: Protein kinase domain (21 - 242)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1244 a.a.
蛋白主名 其他名称

tau-tubulin kinase 2

TTBK2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TTBK2 Q6IQ55 CEP164 Homo sapiens Q9UPV0 22863007
种属内
TTBK2 Q6IQ55 CEP164 Homo sapiens Q9UPV0
Y2H
22863007
种属内
TTBK2 Q6IQ55 CEP164 Homo sapiens Q9UPV0 22863007
种属内
TTBK2 Q6IQ55 KLHL12 Homo sapiens Q53G59 32296183
种属内
TTBK2 Q6IQ55 KLHL12 Homo sapiens Q53G59 32296183
种属内
TTBK2 Q6IQ55 KLHL12 Homo sapiens Q53G59 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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