Gene: ATXN3

4287
AT3|ATX3|JOS|MJD|MJD1|SCA3
ataxin 3
protein-coding
14q32.12
Ensembl:ENSG00000066427 MIM:607047 Vega:OTTHUMG00000162212 UniprotKB:P54252
NG_008198.2
SNP Mapped
1   ANCO-SNPs
AD
0   
NA (AD)  NA (ND)   (Frontal_Cortex)
1.115e-1 (AD)  4.211e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs17807815chr14:92089711 (GRCh38.p7)T>Calcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
RNF1110.903
RAD500.902
ARFGEF10.902
FBXO110.896
GMPS0.896
DYM0.892
RAB3GAP20.892
CEP680.89
TUBGCP40.888
BOD1L10.888

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.437
OR4F29-0.415
S100A1-0.373
CSAG1-0.366
ROM1-0.365
HEY2-0.358
FXYD3-0.342
ENDOU-0.341
RAB13-0.336
LRAT-0.328

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C5321622-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine"[PIK3CA gene mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine] which results in increased expression of ATXN3 mRNA"20453058
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ATXN3 mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ATXN3 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ATXN3 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ATXN3 mRNA"27188386
D016604Aflatoxin B1Aflatoxin B1 results in increased expression of ATXN3 mRNA21641981|2210060
D000393Air PollutantsAir Pollutants results in decreased expression of ATXN3 mRNA25056781
D000535AluminumAluminum affects the folding of ATXN3 protein polymorphism17300980
D000535AluminumAluminum promotes the reaction [ATXN3 protein polymorphism binds to ATXN3 protein polymorphism]17300980
D000535AluminumAluminum affects the folding of ATXN3 protein polymorphism17300980
D000535AluminumAluminum promotes the reaction [ATXN3 protein polymorphism binds to ATXN3 protein polymorphism]17300980
D000643Ammonium ChlorideAmmonium Chloride affects the expression of ATXN3 mRNA16483693
D001564Benzo(a)pyreneBenzo(a)pyrene results in increased expression of ATXN3 mRNA22228805
D004958EstradiolEstradiol results in increased expression of ATXN3 mRNA17010207
C006780bisphenol Abisphenol A affects the expression of ATXN3 mRNA21786754
C006780bisphenol Abisphenol A results in increased expression of ATXN3 mRNA27571134
C006780bisphenol Abisphenol A results in increased methylation of ATXN3 gene28505145
D020122tert-Butylhydroperoxidetert-Butylhydroperoxide results in increased expression of ATXN3 mRNA15336504
C031180chrysenechrysene results in increased expression of ATXN3 mRNA26377693
D002922CiguatoxinsCiguatoxins affects the expression of ATXN3 mRNA18353800
D003042CocaineCocaine results in decreased expression of ATXN3 mRNA12629581
D005576ColforsinColforsin results in decreased expression of ATXN3 mRNA16751804
D019327Copper SulfateCopper Sulfate results in increased expression of ATXN3 mRNA19549813
C408982CPG-oligonucleotideCPG-oligonucleotide results in decreased expression of ATXN3 mRNA21878529
D016578Crack CocaineCrack Cocaine results in increased expression of ATXN3 mRNA12629581
C014347decitabinedecitabine affects the expression of ATXN3 mRNA23300844
D003703DemecolcineDemecolcine results in increased expression of ATXN3 mRNA23649840
D002945CisplatinCisplatin affects the expression of ATXN3 mRNA23300844
D002945CisplatinCisplatin results in increased expression of ATXN3 mRNA27392435
C000944dicrotophosdicrotophos results in decreased expression of ATXN3 mRNA28302478
D004054DiethylstilbestrolDiethylstilbestrol results in increased expression of ATXN3 mRNA17010207
D0151279,10-Dimethyl-1,2-benzanthracene"9,10-Dimethyl-1,2-benzanthracene results in decreased expression of ATXN3 mRNA"22485181
C051904dinophysistoxin 1dinophysistoxin 1 results in increased expression of ATXN3 mRNA28939011
D007980LevodopaLevodopa inhibits the reaction [Oxidopamine results in increased expression of ATXN3 mRNA]25129099
C045651epigallocatechin gallate[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of ATXN3 mRNA22079256
D004997Ethinyl EstradiolEthinyl Estradiol affects the expression of ATXN3 mRNA17555576
D005020Ethyl MethanesulfonateEthyl Methanesulfonate results in increased expression of ATXN3 mRNA23649840
D005419FlavonoidsFlavonoids results in decreased expression of ATXN3 mRNA18035473
D005557FormaldehydeFormaldehyde results in increased expression of ATXN3 mRNA23649840
D017313FenretinideFenretinide results in decreased expression of ATXN3 mRNA28973697
D006997Hypochlorous AcidHypochlorous Acid results in increased expression of ATXN3 mRNA19376150
C016527isoquercitrinisoquercitrin inhibits the reaction [Oxidopamine results in increased expression of ATXN3 mRNA]25129099
D058185Magnetite Nanoparticles[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of ATXN3 mRNA21641980
D058185Magnetite Nanoparticles[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of ATXN3 mRNA26378955
D008628MercuryMercury analog results in decreased expression of ATXN3 mRNA25056781
C004925methylmercuric chloridemethylmercuric chloride results in decreased expression of ATXN3 mRNA28001369
C004925methylmercuric chloridemethylmercuric chloride results in increased expression of ATXN3 mRNA28001369
D008767Methylmercury CompoundsMethylmercury Compounds results in decreased expression of ATXN3 mRNA26558463
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in increased expression of ATXN3 mRNA23649840
D0156551-Methyl-4-phenylpyridinium1-Methyl-4-phenylpyridinium results in increased expression of ATXN3 mRNA26558463
D015741MetriboloneMetribolone results in increased expression of ATXN3 mRNA16751804
C474055octylphenoloctylphenol results in increased expression of ATXN3 mRNA17010207
D016627Oxidopamineisoquercitrin inhibits the reaction [Oxidopamine results in increased expression of ATXN3 mRNA]25129099
D016627OxidopamineLevodopa inhibits the reaction [Oxidopamine results in increased expression of ATXN3 mRNA]25129099
D016627OxidopamineOxidopamine results in increased expression of ATXN3 mRNA25129099
D016627OxidopamineRutin inhibits the reaction [Oxidopamine results in increased expression of ATXN3 mRNA]25129099
D019319Okadaic AcidOkadaic Acid results in increased expression of ATXN3 mRNA28939011
C076994perfluorooctane sulfonic acidperfluorooctane sulfonic acid results in decreased expression of ATXN3 mRNA27153767
D010662Phenylmercuric Acetate"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ATXN3 mRNA"27188386
D010662Phenylmercuric AcetatePhenylmercuric Acetate results in decreased expression of ATXN3 mRNA26272509
C006253pirinixic acid[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ATXN3 mRNA19710929
D010936Plant ExtractsPlant Extracts results in increased expression of ATXN3 mRNA23557933
C027373potassium chromate(VI)[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of ATXN3 mRNA22079256
C027373potassium chromate(VI)potassium chromate(VI) results in decreased expression of ATXN3 mRNA22079256
D011374ProgesteroneProgesterone results in increased expression of ATXN3 mRNA23012394
D011794QuercetinQuercetin results in decreased expression of ATXN3 mRNA21632981
C059514resveratrol[resveratrol binds to and results in increased activity of SIRT1 protein] which results in decreased activity of ATXN3 protein mutant form17885668
D012402RotenoneRotenone results in increased expression of ATXN3 mRNA18191903
D012431RutinRutin inhibits the reaction [Oxidopamine results in increased expression of ATXN3 mRNA]25129099
C010327salinomycinsalinomycin results in decreased expression of ATXN3 mRNA19682730
C009277sodium arsenatesodium arsenate results in decreased expression of ATXN3 mRNA23922661
D004113Succimer[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of ATXN3 mRNA21641980
D004113Succimer[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of ATXN3 mRNA26378955
D013629TamoxifenTamoxifen affects the expression of ATXN3 mRNA17555576
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of ATXN3 mRNA21570461
D014635Valproic Acid"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ATXN3 mRNA"27188386
D014635Valproic AcidValproic Acid results in decreased expression of ATXN3 mRNA23179753|2493525
C025643vinclozolinvinclozolin results in increased expression of ATXN3 mRNA23034163
D014810Vitamin EVitamin E results in decreased expression of ATXN3 mRNA19244175
D015032ZincZinc affects the folding of ATXN3 protein polymorphism17300980
D015032ZincZinc promotes the reaction [ATXN3 protein polymorphism binds to ATXN3 protein polymorphism]17300980
D015032ZincZinc affects the folding of ATXN3 protein polymorphism17300980
D015032ZincZinc promotes the reaction [ATXN3 protein polymorphism binds to ATXN3 protein polymorphism]17300980

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0004843thiol-dependent ubiquitin-specific protease activity-IBA21873635  
GO:0004843thiol-dependent ubiquitin-specific protease activity-ISS-  
GO:0005515protein binding-IPI12944474  16525503  17000876  20414249  21386698  21625540  
22970133  
GO:0031625ubiquitin protein ligase binding-IPI24063750  24068323  
GO:0031625ubiquitin protein ligase binding-ISS-  
GO:0036459thiol-dependent ubiquitinyl hydrolase activity-ISS-  
GO:0036459thiol-dependent ubiquitinyl hydrolase activity-TAS-  
GO:0051117ATPase binding-IPI17000876  22970133  
GO:0061578Lys63-specific deubiquitinase activity-IDA22970133  
GO:1990380Lys48-specific deubiquitinase activity-IDA22970133  
GO ID GO Term Qualifier Evidence PubMed
GO:0000226microtubule cytoskeleton organization-IMP20637808  
GO:0006289nucleotide-excision repair-TAS10915768  
GO:0006351transcription, DNA-templated-IEA-  
GO:0006355regulation of transcription, DNA-templated-IEA-  
GO:0006511ubiquitin-dependent protein catabolic process-ISS-  
GO:0006515protein quality control for misfolded or incompletely synthesized proteins-ISS-  
GO:0007268chemical synaptic transmission-TAS7655453  
GO:0007399nervous system development-TAS9124802  
GO:0010810regulation of cell-substrate adhesion-IMP20637808  
GO:0016579protein deubiquitination-IBA21873635  
GO:0016579protein deubiquitination-IMP17000876  
GO:0016579protein deubiquitination-TAS-  
GO:0030036actin cytoskeleton organization-IMP20637808  
GO:0034605cellular response to heat-ISS-  
GO:0035520monoubiquitinated protein deubiquitination-ISS-  
GO:0043161proteasome-mediated ubiquitin-dependent protein catabolic process-ISS-  
GO:0045104intermediate filament cytoskeleton organization-IMP20637808  
GO:0070536protein K63-linked deubiquitination-IDA22970133  
GO:0071108protein K48-linked deubiquitination-IDA22970133  
GO:0071218cellular response to misfolded protein-ISS-  
GO:1904294positive regulation of ERAD pathway-IMP17000876  
GO:1904379protein localization to cytosolic proteasome complex involved in ERAD pathway-IMP17000876  
GO ID GO Term Qualifier Evidence PubMed
GO:0005634nucleus-IBA21873635  
GO:0005634nucleus-IDA24548080  
GO:0005654nucleoplasm-TAS-  
GO:0005730nucleolus-IDA-  
GO:0005737cytoplasm-TAS9124802  
GO:0005759mitochondrial matrix-ISS-  
GO:0005789endoplasmic reticulum membranecolocalizes_withIDA17000876  
GO:0005829cytosol-IDA24548080  
GO:0005829cytosol-TAS-  
GO:0005886plasma membrane-IDA-  
GO:0016363nuclear matrix-IEA-  
GO:0031966mitochondrial membrane-ISS-  
GO:0042405nuclear inclusion body-ISS-  
KEGG ID KEGG Term
hsa04141Protein processing in endoplasmic reticulum
Reactome ID Reactome Term Evidence
R-HSA-392499Metabolism of proteinsTAS
R-HSA-5688426DeubiquitinationTAS
R-HSA-5689877Josephin domain DUBsTAS
R-HSA-597592Post-translational protein modificationTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal