1. Gene
  2. ATXN2 - ataxin 2 Gene

ATXN2 - ataxin 2 Gene

中文名称:共济失调素 2

种属: Homo sapiens

同用名: ATX2; SCA2; TNRC13

基因 ID: 6311 | 基因类型: protein coding

关于 ATXN2

Cytogenetic location: 12q24.12 Genomic coordinates (GRCh38): 12:111,452,214-111,599,673 (from NCBI)

This gene has 43 transcripts (splice variants), 216 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 11.3), brain (RPKM 9.4) and 25 other tissues.

功能概要

该基因属于一组与微卫星扩展疾病相关的基因,微卫星扩展疾病是一类由短链重复 DNA 扩展引起的神经和神经肌肉疾病。由该基因编码的蛋白质在 N 末端附近有两个球状结构域,其中一个包含网格蛋白介导的反式高尔基体信号和内质网退出信号。编码的细胞质蛋白定位于内质网和质膜,参与胞吞作用,调节 mTOR 信号,改变核糖体翻译和线粒体功能。该蛋白质的 N 末端区域包含一个 14-31 个残基的聚谷氨酰胺束,在致病状态下可以扩展到 32-200 个残基。该束的中等长度扩张增加了对肌萎缩性侧索硬化症的易感性,而该束的长期扩张导致脊髓小脑性共济失调 2,这是一种常染色体显性遗传的神经退行性疾病。全基因组关联研究表明,该基因的功能丧失突变可能与 I 型糖尿病、肥胖症和高血压的易感性有关。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 11 月]

This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

ATXN2 基因产物(4)

mRNA Protein Name
NM_001310121.1 NP_001297050.1 ataxin-2 isoform 2
NM_001310123.1 NP_001297052.1 ataxin-2 isoform 3
NM_001372574.1 NP_001359503.1 ataxin-2 isoform 4
NM_002973.4 NP_002964.4 ataxin-2 isoform 1
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 epidermal growth factor receptor binding IPI
IPI: 通过物理相互作用推断
18602463 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10814712 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in P-body assembly IMP
IMP: 通过突变表型推断
17392519 GOA
involved in negative regulation of receptor internalization IMP
IMP: 通过突变表型推断
18602463 GOA
involved in stress granule assembly IMP
IMP: 通过突变表型推断
17392519 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
12812977 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
10814712 GOA
located in cytoplasmic stress granule IDA
IDA: 通过直接分析推断
17392519 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
17097639 GOA
part of ribonucleoprotein complex IDA
IDA: 通过直接分析推断
16835262 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
10814712 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

ATXN2 蛋白结构

SM-ATX

SM-ATX: Ataxin 2 SM domain (267 - 336)

LsmAD

LsmAD: LsmAD domain (409 - 477)

PAM2

PAM2: Ataxin-2 C-terminal region (910 - 925)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1313 a.a.
蛋白主名 其他名称

ataxin-2

spinocerebellar ataxia type 2 protein

ATXN2 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
Intra ATXN2 Q99700 DDX6 Homo sapiens P26196
BN-PAGE
26184334
Intra ATXN2 Q99700 SH3GL3 Homo sapiens Q99963
Anti Tag CoIP
16115810
Intra ATXN2 Q99700 SH3GL3 Homo sapiens Q99963
Y2H
16713569
Intra ATXN2 Q99700 SH3GL3 Homo sapiens Q99963
Y2H
18602463
Intra ATXN2 Q99700 SH3GL3 Homo sapiens Q99963
Y2H
16115810
Intra ATXN2 Q99700 SH3GL2 Homo sapiens Q99962
Anti Tag CoIP
18602463
Intra ATXN2 Q99700 SH3GL2 Homo sapiens Q99962
Y2H
16713569
Intra ATXN2 Q99700 SH3GL2 Homo sapiens Q99962
Anti Tag CoIP
16115810
Intra ATXN2 Q99700 SH3GL2 Homo sapiens Q99962
Y2H
16115810
Intra ATXN2 Q99700 PABPC1 Homo sapiens P11940
Confocal
17392519
Intra ATXN2 Q99700 PABPC1 Homo sapiens P11940
BN-PAGE
26184334
Intra ATXN2 Q99700 PABPC1 Homo sapiens P11940
Y2H
15663938
Intra ATXN2 Q99700 PABPC1 Homo sapiens P11940
Anti Tag CoIP
15663938
Intra ATXN2 Q99700 PABPC1 Homo sapiens P11940
SPR
20181956
Intra ATXN2 Q99700 ATXN1 Homo sapiens P54253
Y2H
16713569
Intra ATXN2 Q99700 ATXN1 Homo sapiens P54253
Pull Down
16713569
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 2

Spinocerebellar Ataxia Type 2

SCA2

Amyotrophic Lateral Sclerosis 13

Spinocerebellar Degeneration With Slow Eye Movements

SDSEM

Spinocerebellar Atrophy Ii

Olivopontocerebellar Atrophy Ii

Opca2

Cerebellar Degeneration With Slow Eye Movements

Wadia-Swami Syndrome

Amyotrophic Lateral Sclerosis Type 13

ALS13

Olivopontocerebellar Atrophy Holguin Type

Spinocerebellar Ataxia Cuban Type

Olivopontocerebellar Atrophy, Holguin Type

Spinocerebellar Ataxia, Cuban Type

Amyotrophic Lateral Sclerosis, Susceptibility To, 13

Olivopontocerebellar Atrophy 2

Sca 2

Spinocerebellar Ataxia With Slow Eye Movements

Spinocerebellar Atrophy 2

Wadia Swami Syndrome

Opca Ii

Spinocerebellar Ataxia-2

Ataxia, Spinocerebellar, Type 2

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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

Olivopontocerebellar Atrophy

Thomas Syndrome

Olivopontocerebellar Atrophies

Dejerine-Thomas Syndrome

Thomas' Syndrome

Wadia-Swami Syndrome

Opca

Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome

Spinocerebellar Ataxia Type 2

Machado-Joseph Disease

SCA3

MJD

Spinocerebellar Ataxia 3

Azorean Disease

Spinocerebellar Ataxia Type 3

Spinocerebellar Atrophy

Azorean Neurologic Disease

Spinopontine Atrophy

Nigrospinodentatal Degeneration

Spinocerebellar Atrophy Iii

Spinocerebellar Atrophy Type 3

Azorean Ataxia

Azorean Disease Of The Nervous System

Machado Disease

Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

Disease, Machado-Joseph

Ataxia, Spinocerebellar

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Lateral Sclerosis

Primary Lateral Sclerosis

Adult-Onset Primary Lateral Sclerosis

Adult-Onset Pls

Motor Neuron Disease

Pls

Pls - [Primary Lateral Sclerosis]

Lateral Spinal Sclerosis

Lateral Complete Paralysis

Lateral Incomplete Paralysis

Lateral Paralysis

Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Spinocerebellar Ataxia 12

Spinocerebellar Ataxia Type 12

SCA12

Ataxia, Spinocerebellar, Type 12

Spinocerebellar Ataxia 7

Spinocerebellar Ataxia Type 7

SCA7

Opca3

Opca Iii

Olivopontocerebellar Atrophy Iii

Opca With Retinal Degeneration

Opca With Macular Degeneration And External Ophthalmoplegia

Adca, Type Ii

Autosomal Dominant Cerebellar Ataxia Type 2

Olivopontocerebellar Atrophy 3

Autosomal Dominant Cerebellar Ataxia, Type Ii

Autosomal Dominant Cerebellar Ataxia Type Ii

Adca2

Adcaii

Ataxia With Pigmentary Retinopathy

Cerebellar Syndrome-Pigmentary Maculopathy Syndrome

Olivopontocerebellar Atrophy With Retinal Degeneration

Spinocerebellar Ataxia-7

Ataxia, Spinocerebellar, Type 7

Hereditary Late-Onset Parkinson Disease

Autosomal Dominant Late-Onset Parkinson Disease

Lopd

Hereditary Late Onset Parkinson Disease

Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17

SCA17

Huntington Disease-Like 4

Hdl4

Olivopontocerebellar Atrophy V

Cerebelloparenchymal Disorder Ii

Opca5

Cpd2

Sca 17

Ataxia, Spinocerebellar, Type 17

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Friedreich Ataxia

Friedreich Ataxia 1

FRDA

Friedreich Ataxia With Retained Reflexes

Frda1

Fa

Friedreich'S Ataxia

Hereditary Spinal Ataxia

Fa1

Friedreich'S Tabes

Hereditary Spinal Sclerosis

Spinocerebellar Ataxia, Friedreich

Friedreich Spinocerebellar Ataxia

Friedrich'S Ataxia

Primary Cerebellar Degeneration

Spinocerebellar Degenerations

Cerebellar Degenerations, Primary

Spinocerebellar Degeneration

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Amyotrophic Lateral Sclerosis 21

Amyotrophic Lateral Sclerosis Type 21

ALS21

Multisystem Proteinopathy 5

Msp5

Distal Myopathy With Vocal Cord Weakness

Vcpdm

Myopathy, Distal, 2, Formerly

Mpd2, Formerly

Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy, Formerly

Vcpdm, Formerly

Vocal Cord And Pharyngeal Distal Myopathy

Matr3-Related Distal Myopathy

Distal Myopathy 2

Mpd2

Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy

Sclerosis, Lateral, Amyotrophic, Type 21

Myopathy, Distal 2

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Spinocerebellar Ataxia 36

Spinocerebellar Ataxia Type 36

SCA36

Asidan Ataxia

Costa De Morte Ataxia

Asidan

Ataxia, Spinocerebellar, Type 36

Spinocerebellar Ataxia 4

Spinocerebellar Ataxia Type 4

SCA4

Spinocerebellar Ataxia, Autosomal Dominant, With Sensory Axonal Neuropathy

Spinocerebellar Ataxia Autosomal Dominant With Sensory Axonal Neuropathy

Spinocerebellar Ataxia-4

Spinocerebellar Ataxias

Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease

Sbma

Spinal And Bulbar Muscular Atrophy

Kennedy'S Disease

X-Linked Spinal And Bulbar Muscular Atrophy

SMAX1

Kd

Kennedy Spinal And Bulbar Muscular Atrophy

Spinobulbar Muscular Atrophy

Bulbospinal Muscular Atrophy, X-Linked

Bulbospinal Neuronopathy, X-Linked Recessive

Xbsn

Spinal And Bulbar Muscular Atrophy Of Kennedy

Bulbospinal Muscular Atrophy

X-Linked Bulbospinal Amyotrophy

Bulbo-Spinal Atrophy, X-Linked

Spinal Bulbar Muscular Atrophy

X-Linked Bulbo-Spinal Atrophy

X-Linked Spinal Bulbar Muscular Atrophy

X-Linked Bsma

X-Linked Bulbospinal Muscular Atrophy

Spinal And Bulbar Muscular Atrophy X-Linked 1

Bulbospinal Muscular Atrophy X-Linked

Bulbospinal Neuronopathy X-Linked Recessive

Kennedy Disease)

Kennedy Syndrome

Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

Atrophy, Muscular, Spinobulbar

Bulbospinal Neuronopathy

Parkinson Disease 1, Autosomal Dominant

Autosomal Dominant Parkinson Disease 1

PARK1

Parkinson Disease 1

Parkinson'S Disease 1

Atypical Parkinson Disease

Parkinson Disease 1, Autosomal Dominant Lewy Body

Autosomal Dominant Parkinson'S Disease 1

Lewy Body Parkinsonism

Parkinson Disease Autosomal Dominant 1

Parkinson Disease Familial Type 1

Parkinson Disease, Type 1

Parkinson Disease, Familial, Type 1

Restless Legs Syndrome

Wed

Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome

Rls

Restless Legs

Restless Legs Syndrome, Susceptibility To

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1

SCA1

Olivopontocerebellar Atrophy I

Opca1

Opca4

Menzel Type Opca

Schut-Haymaker Type Opca

Spinocerebellar Atrophy I

Opca I

Olivopontocerebellar Atrophy Iv

Opca Iv

Cerebelloparenchymal Disorder I

Cpd1

Olivopontocerebellar Atrophy 1

Cerebelloparenchymal Disorder 1

Olivopontocerebellar Atrophy 4

Spinocerebellar Atrophy 1

Type 1 Spinocerebellar Ataxia

Spinocerebellar Ataxia-1

Ataxia, Spinocerebellar, Type 1

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 10

ALS10

Amyotrophic Lateral Sclerosis 10, With Or Without Ftd

Frontotemporal Lobar Degeneration, Tardbp-Related

Amyotrophic Lateral Sclerosis 10

Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia

Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions

Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions

Sclerosis, Lateral, Amyotrophic, Type Type 10

Progressive Muscular Atrophy

Progressive Spinal Muscular Atrophy

Pure Progressive Muscular Atrophy

Pma

Hereditary Spinal Muscle Atrophy

Pma - [Progressive Muscular Atrophy]

Progressive Muscle Atrophy

Progressive Spinal Muscle Atrophy

Duchenne-Aran Atrophy

Duchenne-Aran Muscle Atrophy

Hereditary Sma - [Spinal Muscle Atrophy]

Amyotrophic Lateral Sclerosis Type 15

Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia

Als15

Amyotrophic Lateral Sclerosis 15

X-Linked Hereditary Ataxia
Spinocerebellar Ataxia 6

Spinocerebellar Ataxia Type 6

SCA6

Type 6 Spinocerebellar Ataxia

Spinocerebellar Ataxia-6

Ataxia, Spinocerebellar, Type 6

Spinocerebellar Ataxia 15

SCA15

Spinocerebellar Ataxia Type 15

Spinocerebellar Ataxia Type 16

Sca16

Spinocerebellar Ataxia Type 15/16

Spinocerebellar Ataxia 16, Formerly

Sca16, Formerly

Spinocerebellar Ataxia 16

Sca15/16

Ataxia, Spinocerebellar, Type 15

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Spinocerebellar Ataxia 10

Spinocerebellar Ataxia Type 10

SCA10

Spinocerebellar Ataxia-10

Ataxia, Spinocerebellar, Type 10

Multisystem Proteinopathy
Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome

Fragile X Tremor/Ataxia Syndrome

Fxtas

Amyotrophic Lateral Sclerosis 4, Juvenile

Amyotrophic Lateral Sclerosis Type 4

ALS4

Amyotrophic Lateral Sclerosis 4

Dhmn With Upper Motor Neuron Signs

Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs

Neuronopathy, Distal Hereditary Motor, With Pyramidal Features

Als 4

Distal Hereditary Motor Neuropathy With Pyramidal Features

Amyotrophic Lateral Sclerosis Juvenile 4

Neuronopathy Distal Hereditary Motor With Pyramidal Features

Sclerosis, Lateral, Amyotrophic, Type Type 4

Spinocerebellar Ataxia 14

Spinocerebellar Ataxia Type 14

SCA14

Ataxia, Spinocerebellar, Type 14

Huntington Disease-Like 2

HDL2

Huntington'S Disease-Like 2

Huntington Disease-Like, Type 2

Giant Axonal Neuropathy 1, Autosomal Recessive

Giant Axonal Neuropathy

Giant Axonal Neuropathy 1

Gan

GAN1

Giant Axonal Neuropathy-1

Neuropathy, Giant Axonal

Giant Axonal Disease

Neuropathy, Axonal, Giant, Type 1

Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type

MRXSBL

Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance

X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance

Mental Retardation, X-Linked 60, Formerly

Mrx60, Formerly

Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type

Mrx60

Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8

SCA8

Ataxia, Spinocerebellar, Type 8

Amyotrophic Lateral Sclerosis Type 6

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive

Als6

Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

Autosomal Recessive Amyotrophic Lateral Sclerosis 6

Sclerosis, Lateral, Amyotrophic, Type Type 6

Amyotrophic Lateral Sclerosis 6

Episodic Ataxia, Type 2

Episodic Ataxia Type 2

EA2

Apca

Capa

Cerebellopathy, Hereditary Paroxysmal

Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia

Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive

Episodic Ataxia With Nystagmus

Ataxia, Episodic, With Nystagmus

Episodic Ataxia, Nystagmus-Associated

Ataxia, Familial Paroxysmal

Acetazolamide-Responsive Episodic Ataxia Syndrome

Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia

Ataxia, Familial, Paroxysmal

Nystagmus-Associated Episodic Ataxia

Familial Paroxysmal Ataxia

Episodic Ataxia 2

Ea-2

Episodic Ataxia Nystagmus-Associated

Hereditary Paroxysmal Cerebellopathy

Ataxia, Episodic, Type 2

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Epithelial-Stromal Tgfbi Dystrophy
Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary

Choreatic Disease

Chorea

Hereditary Chorea

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

Movement Disease

Movement Disorders

Movement Disorder

Supranuclear Palsy, Progressive, 1

Progressive Supranuclear Palsy

Steele-Richardson-Olszewski Syndrome

Supranuclear Palsy, Progressive

Progressive Supranuclear Ophthalmoplegia

Psp

PSNP1

Familial Progressive Supranuclear Palsy

Richardson'S Syndrome

Psp Syndrome

Progressive Supranuclear Palsy 1

Supranuclear Palsy Progressive

Ophthalmoplegia, Supranuclear, Progressive

Steele-Richardson-Olszewksi Syndrome

Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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
Canis familiaris ATXN2 VGNC VGNC:38301
Felis catus ATXN2 VGNC VGNC:60037
Rattus norvegicus ATXN2 RGD RGD:1306637
Bos taurus ATXN2 VGNC VGNC:26340
Macaca mulatta ATXN2 VGNC VGNC:70047
Mus musculus ATXN2 MGD MGI:1277223