Gene: ATXN2

6311
ATX2|SCA2|TNRC13
ataxin 2
protein-coding
12q24.12
Ensembl:ENSG00000204842 MIM:601517 Vega:OTTHUMG00000133475 UniprotKB:Q99700
NG_011572.2
PubMed|SNP Mapped
1   ANCO-SNPs
ND|AD
4   
NA (AD)  NA (ND)   (Frontal_Cortex)
1.032e-1 (AD)  7.895e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs7969300chr12:111555908 (GRCh38.p7)C>Talcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

Probe Locus(GRCh37) Gene Region p-val Trait PubMed ID
cg07932199chr12:112008034ATXN28.300e-9Smoking27651444

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
CBFA2T20.93
SAP1300.924
COPA0.923
CLASP10.922
SUPT7L0.922
MBD10.921
CKAP50.921
TNRC6C0.917
GATAD2B0.917
TSC10.915

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.66
OR4F29-0.645
TFPI2-0.347
KLRB1-0.33
ARHGEF35-0.322
CD3G-0.316
OR4F16-0.313
NCCRP1-0.31
MTRNR2L9-0.307
MTRNR2L10-0.306

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0235142,6-dinitrotoluene"2,6-dinitrotoluene affects the expression of ATXN2 mRNA"21346803
C0095054,4'-diaminodiphenylmethane"4,4'-diaminodiphenylmethane results in decreased expression of ATXN2 mRNA"18648102
D000082AcetaminophenAcetaminophen affects the expression of ATXN2 mRNA17562736
D001151ArsenicArsenic affects the methylation of ATXN2 gene25304211
D001280AtrazineAtrazine results in decreased expression of ATXN2 mRNA25929836
D001564Benzo(a)pyreneAHR protein affects the reaction [Benzo(a)pyrene affects the expression of ATXN2 mRNA]22228805
C543008bis(4-hydroxyphenyl)sulfone[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of ATXN2 mRNA28628672
C006780bisphenol A[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ATXN2 mRNA28628672
C006780bisphenol Abisphenol A results in increased expression of ATXN2 mRNA25181051
C013418bromfenacoumbromfenacoum results in decreased expression of ATXN2 protein28903499
C584509C646 compoundC646 compound results in increased expression of ATXN2 mRNA26191083
C037123cadmium sulfatecadmium sulfate results in increased expression of ATXN2 mRNA14676411|2178398
D016572CyclosporineCyclosporine results in increased expression of ATXN2 mRNA25562108
D003907Dexamethasone[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of ATXN2 mRNA28628672
D003907Dexamethasone[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ATXN2 mRNA28628672
D002945Cisplatin[Cisplatin co-treated with jinfukang] results in decreased expression of ATXN2 mRNA27392435
D002945CisplatinCisplatin results in decreased expression of ATXN2 mRNA27594783
C000944dicrotophosdicrotophos results in increased expression of ATXN2 mRNA28302478
C024629dimethyl phthalatedimethyl phthalate affects the expression of ATXN2 mRNA26924002
D007980LevodopaLevodopa inhibits the reaction [Oxidopamine results in increased expression of ATXN2 mRNA]25129099
D004791Enzyme Inhibitors[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of ATXN2 protein23301498
C045651epigallocatechin gallate[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of ATXN2 mRNA22079256
D005839GentamicinsGentamicins results in increased expression of ATXN2 mRNA22061828
D005897GlafenineGlafenine results in decreased expression of ATXN2 mRNA24136188
D017313FenretinideFenretinide results in increased expression of ATXN2 mRNA28973697
D006830Hydralazine[Hydralazine co-treated with Valproic Acid] results in increased expression of ATXN2 mRNA17183730
D007213Indomethacin[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of ATXN2 mRNA28628672
D007213Indomethacin[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ATXN2 mRNA28628672
D0150561-Methyl-3-isobutylxanthine[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of ATXN2 mRNA28628672
D0150561-Methyl-3-isobutylxanthine[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ATXN2 mRNA28628672
C016527isoquercitrinisoquercitrin inhibits the reaction [Oxidopamine results in increased expression of ATXN2 mRNA]25129099
C544151jinfukang[Cisplatin co-treated with jinfukang] results in decreased expression of ATXN2 mRNA27392435
D007854LeadLead affects the splicing of ATXN2 mRNA28903495
D008767Methylmercury CompoundsMethylmercury Compounds results in decreased expression of ATXN2 mRNA26558463
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in increased expression of ATXN2 mRNA26011545
D008777MethyltestosteroneMethyltestosterone results in increased expression of ATXN2 mRNA29191790
C583365N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide"N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of ATXN2 mRNA"29244179
D016627Oxidopamineisoquercitrin inhibits the reaction [Oxidopamine results in increased expression of ATXN2 mRNA]25129099
D016627OxidopamineLevodopa inhibits the reaction [Oxidopamine results in increased expression of ATXN2 mRNA]25129099
D016627OxidopamineOxidopamine results in increased expression of ATXN2 mRNA25129099
D016627OxidopamineRutin inhibits the reaction [Oxidopamine results in increased expression of ATXN2 mRNA]25129099
D010100OxygenOxygen deficiency affects the methylation of ATXN2 promoter24205000
D010100OxygenOxygen deficiency results in increased expression of ATXN2 mRNA24205000
D010269ParaquatParaquat affects the splicing of ATXN2 exon27111068
D010634PhenobarbitalPhenobarbital results in decreased expression of ATXN2 mRNA23091169
C027373potassium chromate(VI)[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of ATXN2 mRNA22079256
C027373potassium chromate(VI)potassium chromate(VI) results in decreased expression of ATXN2 mRNA22079256
D011374ProgesteroneProgesterone results in increased expression of ATXN2 mRNA23012394
C045950propiconazolepropiconazole results in decreased expression of ATXN2 mRNA21278054
D012431RutinRutin inhibits the reaction [Oxidopamine results in increased expression of ATXN2 mRNA]25129099
C009277sodium arsenatesodium arsenate results in increased expression of ATXN2 mRNA21795629
C017947sodium arsenitesodium arsenite affects the expression of ATXN2 mRNA22058191
C017947sodium arsenitesodium arsenite results in increased expression of ATXN2 mRNA19072884
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of ATXN2 mRNA21570461
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of ATXN2 mRNA22298810
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in decreased phosphorylation of ATXN2 protein23298284
C016805tris(1,3-dichloro-2-propyl)phosphate"tris(1,3-dichloro-2-propyl)phosphate results in increased expression of ATXN2 mRNA"26179874
C057693troglitazonetroglitazone results in decreased expression of ATXN2 mRNA28973697
D017974Uranium CompoundsUranium Compounds results in increased expression of ATXN2 mRNA19654044
D014520UrethaneUrethane results in increased expression of ATXN2 mRNA28818685
D014527Uric AcidATXN2 gene SNP affects the abundance of Uric Acid23263486
D014635Valproic Acid[Hydralazine co-treated with Valproic Acid] results in increased expression of ATXN2 mRNA17183730
D014635Valproic AcidValproic Acid affects the expression of ATXN2 mRNA25979313
D014635Valproic AcidValproic Acid results in increased methylation of ATXN2 gene29154799
D014635Valproic AcidValproic Acid affects the expression of ATXN2 mRNA17292431

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0003723RNA binding-HDA22658674  22681889  
GO:0003723RNA binding-NAS10814712  
GO:0005154epidermal growth factor receptor binding-IPI18602463  
GO:0005515protein binding-IPI10814712  15663938  16115810  16713569  17097639  17392519  
18602463  20181956  20740007  23209657  
GO:0008022protein C-terminus binding-IPI15663938  
GO ID GO Term Qualifier Evidence PubMed
GO:0002091negative regulation of receptor internalization-IMP18602463  
GO:0006417regulation of translation-NAS16835262  
GO:0010603regulation of cytoplasmic mRNA processing body assembly-IBA21873635  
GO:0016070RNA metabolic process-NAS15663938  
GO:0033962cytoplasmic mRNA processing body assembly-IMP17392519  
GO:0034063stress granule assembly-IBA21873635  
GO:0034063stress granule assembly-IMP17392519  
GO:0050658RNA transport-NAS10814712  
GO ID GO Term Qualifier Evidence PubMed
GO:0005737cytoplasm-IDA10814712  10973246  17392519  
GO:0005794Golgi apparatus-IDA12812977  17097639  
GO:0005802trans-Golgi network-IDA10814712  
GO:0005829cytosol-IDA-  
GO:0005844polysome-IDA16835262  
GO:0010494cytoplasmic stress granule-IBA21873635  
GO:0010494cytoplasmic stress granule-IDA17392519  
GO:0016020membrane-HDA19946888  
GO:0048471perinuclear region of cytoplasm-IDA17097639  
GO:1990904ribonucleoprotein complex-IDA16835262  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence

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

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

PMID Title (Year) Author Journal
24419231Axonal guidance signaling pathway interacting with smoking in modifying the risk of pancreatic cancer: a gene- and pathway-based interaction analysis of GWAS data. (2014 May)Tang HCarcinogenesis
27377857Identification of risk factors associated with onset and progression of amyotrophic lateral sclerosis using systematic review and meta-analysis. (2017 Jul)Wang MDNeurotoxicology
25345847The association of thyroid peroxidase antibody risk loci with susceptibility to and phenotype of Graves' disease. (2015 Oct)Kus AClin Endocrinol (Oxf)
25009551The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study. (2014)Kullo IJFront Genet