ATXN2 - ataxin 2 Gene

Also Known as ATX2; SCA2; TNRC13

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6311

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables epidermal growth factor receptor binding	IPI IPI: Inferred from physical interaction	18602463	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10814712	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in P-body assembly	IMP IMP: Inferred from mutant phenotype	17392519	GOA
involved in negative regulation of receptor internalization	IMP IMP: Inferred from mutant phenotype	18602463	GOA
involved in stress granule assembly	IMP IMP: Inferred from mutant phenotype	17392519	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	12812977	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	10814712	GOA
located in cytoplasmic stress granule	IDA IDA: Inferred from direct assay	17392519	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	17097639	GOA
part of ribonucleoprotein complex	IDA IDA: Inferred from direct assay	16835262	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	10814712	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

ATXN2 Protein Structure

SM-ATX

LsmAD

PAM2

0
300
600
900
1200
1313 a.a.

Protein Preferred Names	Protein Names
ataxin-2	spinocerebellar ataxia type 2 protein

ATXN2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

ATXN2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810923	Ataxin 2 Antibody	WB, IHC-P, ICC/IF	Human, Mouse

Related Diseases

Diseases	Alias
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

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 (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-402873	DMTr-2'-O-C16-rC(Ac)-3'-CE-phosphoramidite	Inhibitor	/	Unkown
HY-RS01256	ATXN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01257	ATXN2L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-180474	LP293-p		/	Unkown
HY-RS21491	Atxn2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21824	Atxn2l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28009	Atxn2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28341	Atxn2l Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	ATXN2	NCBI