HGNC Family | Ataxins (ATXN), Trinucleotide repeat containing (TNRC) |
Name | ataxin 2 |
Description | 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] |
Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nAtaxin‑2 (ATXN2) is emerging as a multifunctional RNA‐binding protein that plays a central role in post‐transcriptional gene regulation. It directly associates with messenger ribonucleoprotein complexes by assembling with polyribosomes and binding to the poly(A)‑binding protein (PABP) via conserved domains. Such interactions enable ATXN2 to bind mRNAs—both directly (via its Lsm domain) and indirectly (through its PAM2 motif and PABP interaction)—to regulate mRNA stabilization and translation, thereby influencing the expression of key proteins required for normal cellular homeostasis. (."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its role in RNA metabolism, ATXN2 functions as a potent modifier in neurodegenerative disease pathways. Intermediate‐length expansions of its polyglutamine tract have been shown to enhance the toxicity of key RNA‑binding proteins such as TDP‑43 and FUS, thereby promoting stress‑induced caspase activation, aberrant proteolytic cleavage, and aggregation that are characteristic of amyotrophic lateral sclerosis (ALS) and related neurodegenerative disorders. Moreover, genetic studies indicate that structural variations and haplotypes in the ATXN2 gene confer increased risk for conditions including ALS and progressive supranuclear palsy by altering ATXN2’s interaction dynamics and RNA‐processing functions. (."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "12"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond RNA regulation, ATXN2 contributes to other critical cellular pathways including endocytic receptor trafficking, cytoskeletal dynamics, and the modulation of apoptotic sensitivity. It interacts with endocytic regulators—such as endophilin A1/A3—to influence receptor cycling and membrane dynamics, while studies in Drosophila have underscored a conserved role in the regulation of actin filament formation. Furthermore, altered levels of ATXN2 can sensitize cells to apoptotic stimuli, linking its dysregulation not only to neurodegeneration but also to aberrant cell death. (."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "17"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Markus Ralser, Mario Albrecht, Ute Nonhoff, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An integrative approach to gain insights into the cellular function of human ataxin-2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jmb.2004.11.024"}], "href": "https://doi.org/10.1016/j.jmb.2004.11.024"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15663938"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15663938"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Terrence F Satterfield, Leo J Pallanck "}, {"type": "b", "children": [{"type": "t", "text": "Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddl173"}], "href": "https://doi.org/10.1093/hmg/ddl173"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16835262"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16835262"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Guennadi Kozlov, Nozhat Safaee, Angelika Rosenauer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural basis of binding of P-body-associated proteins GW182 and ataxin-2 by the Mlle domain of poly(A)-binding protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M109.089540"}], "href": "https://doi.org/10.1074/jbc.M109.089540"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20181956"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20181956"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Andrew C Elden, Hyung-Jun Kim, Michael P Hart, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature09320"}], "href": "https://doi.org/10.1038/nature09320"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20740007"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20740007"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Teresa Lee, Yun R Li, Caroline Ingre, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddr045"}], "href": "https://doi.org/10.1093/hmg/ddr045"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21292779"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21292779"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Zhenming Yu, Yongqing Zhu, Alice S Chen-Plotkin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0017951"}], "href": "https://doi.org/10.1371/journal.pone.0017951"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21479228"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21479228"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Owen A Ross, Nicola J Rutherford, Matt Baker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ataxin-2 repeat-length variation and neurodegeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddr227"}], "href": "https://doi.org/10.1093/hmg/ddr227"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21610160"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21610160"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Michael P Hart, Aaron D Gitler "}, {"type": "b", "children": [{"type": "t", "text": "ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.0996-12.2012"}], "href": "https://doi.org/10.1523/JNEUROSCI.0996-12.2012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22764223"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22764223"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Manal A Farg, Kai Y Soo, Sadaf T Warraich, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/dds479"}], "href": "https://doi.org/10.1093/hmg/dds479"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23172909"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23172909"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Chantal Sellier, Maria-Letizia Campanari, Camille Julie Corbier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/embj.201593350"}], "href": "https://doi.org/10.15252/embj.201593350"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27103069"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27103069"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Pan P Li, Xin Sun, Guangbin Xia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.24761"}], "href": "https://doi.org/10.1002/ana.24761"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27531668"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27531668"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Sharan Paul, Warunee Dansithong, Karla P Figueroa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-018-06041-3"}], "href": "https://doi.org/10.1038/s41467-018-06041-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30194296"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30194296"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Markus Ralser, Ute Nonhoff, Mario Albrecht, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddi321"}], "href": "https://doi.org/10.1093/hmg/ddi321"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16115810"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16115810"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "David Nonis, Mirko H H Schmidt, Simone van de Loo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Signal (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cellsig.2008.05.018"}], "href": "https://doi.org/10.1016/j.cellsig.2008.05.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18602463"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18602463"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Christian Kaehler, Jörg Isensee, Ute Nonhoff, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ataxin-2-like is a regulator of stress granules and processing bodies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0050134"}], "href": "https://doi.org/10.1371/journal.pone.0050134"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23209657"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23209657"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Jessica N Cooke Bailey, Stephanie J Loomis, Jae H Kang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.3482"}], "href": "https://doi.org/10.1038/ng.3482"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26752265"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26752265"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Ruprecht Wiedemeyer, Frank Westermann, Isabel Wittke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ataxin-2 promotes apoptosis of human neuroblastoma cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.onc.1206150"}], "href": "https://doi.org/10.1038/sj.onc.1206150"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12545161"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12545161"}]}]}]}
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Synonyms | ASL13, ATX2, TNRC13 |
Proteins | ATX2_HUMAN |
NCBI Gene ID | 6311 |
API | |
Download Associations | |
Predicted Functions |
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Co-expressed Genes |
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Expression in Tissues and Cell Lines |
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ATXN2 has 8,285 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 125 datasets.
Click the + buttons to view associations for ATXN2 from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
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Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of ATXN2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of ATXN2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of ATXN2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of ATXN2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of ATXN2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of ATXN2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of ATXN2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of ATXN2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of ATXN2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of ATXN2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CCLE Cell Line Proteomics | Cell lines associated with ATXN2 protein from the CCLE Cell Line Proteomics dataset. | |
CellMarker Gene-Cell Type Associations | cell types associated with ATXN2 gene from the CellMarker Gene-Cell Type Associations dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of ATXN2 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of ATXN2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of ATXN2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of ATXN2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing ATXN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing ATXN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores | cellular components containing ATXN2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing ATXN2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with ATXN2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with ATXN2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with ATXN2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with ATXN2 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with ATXN2 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
dbGAP Gene-Trait Associations | traits associated with ATXN2 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. | |
DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of ATXN2 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by ATXN2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving ATXN2 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving ATXN2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores | diseases associated with ATXN2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with ATXN2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with ATXN2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with ATXN2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DisGeNET Gene-Disease Associations | diseases associated with ATXN2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with ATXN2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at ATXN2 gene from the ENCODE Histone Modification Site Profiles dataset. | |
ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of ATXN2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of ATXN2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing ATXN2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GAD Gene-Disease Associations | diseases associated with ATXN2 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
GAD High Level Gene-Disease Associations | diseases associated with ATXN2 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of ATXN2 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with ATXN2 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing ATXN2 from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of ATXN2 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of ATXN2 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of ATXN2 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of ATXN2 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of ATXN2 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of ATXN2 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GO Biological Process Annotations 2015 | biological processes involving ATXN2 gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving ATXN2 gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving ATXN2 gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing ATXN2 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing ATXN2 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Cellular Component Annotations 2025 | cellular components containing ATXN2 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by ATXN2 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2023 | molecular functions performed by ATXN2 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
GO Molecular Function Annotations 2025 | molecular functions performed by ATXN2 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of ATXN2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of ATXN2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of ATXN2 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of ATXN2 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
GWAS Catalog SNP-Phenotype Associations | phenotypes associated with ATXN2 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. | |
GWASdb SNP-Disease Associations | diseases associated with ATXN2 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
GWASdb SNP-Phenotype Associations | phenotypes associated with ATXN2 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of ATXN2 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of ATXN2 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
HPA Tissue Gene Expression Profiles | tissues with high or low expression of ATXN2 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Protein Expression Profiles | tissues with high or low expression of ATXN2 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of ATXN2 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HPO Gene-Disease Associations | phenotypes associated with ATXN2 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
Hub Proteins Protein-Protein Interactions | interacting hub proteins for ATXN2 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with ATXN2 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for ATXN2 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of ATXN2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate ATXN2 protein from the Kinase Library Serine Threonine Atlas dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of ATXN2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of ATXN2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with ATXN2 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of ATXN2 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of ATXN2 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of ATXN2 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
LOCATE Curated Protein Localization Annotations | cellular components containing ATXN2 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain ATXN2 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by ATXN2 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MiRTarBase microRNA Targets | microRNAs targeting ATXN2 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of ATXN2 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of ATXN2 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by ATXN2 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
MSigDB Cancer Gene Co-expression Modules | co-expressed genes for ATXN2 from the MSigDB Cancer Gene Co-expression Modules dataset. | |
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of ATXN2 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of ATXN2 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
NURSA Protein Complexes | protein complexs containing ATXN2 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
NURSA Protein-Protein Interactions | interacting proteins for ATXN2 from the NURSA Protein-Protein Interactions dataset. | |
OMIM Gene-Disease Associations | phenotypes associated with ATXN2 gene from the curated OMIM Gene-Disease Associations dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for ATXN2 from the Pathway Commons Protein-Protein Interactions dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of ATXN2 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of ATXN2 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving ATXN2 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving ATXN2 protein from the Wikipathways PFOCR 2024 dataset. | |
ProteomicsDB Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of ATXN2 protein relative to other cell types and tissues from the ProteomicsDB Cell Type and Tissue Protein Expression Profiles dataset. | |
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ATXN2 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ATXN2 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ATXN2 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of ATXN2 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of ATXN2 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at ATXN2 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of ATXN2 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of ATXN2 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with ATXN2 protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Drugs | drug perturbations changing phosphorylation of ATXN2 protein from the SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Drugs dataset. | |
SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands | ligand (protein) perturbations changing phosphorylation of ATXN2 protein from the SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of ATXN2 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of ATXN2 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of ATXN2 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of ATXN2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of ATXN2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of ATXN2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of ATXN2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with ATXN2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with ATXN2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
WikiPathways Pathways 2014 | pathways involving ATXN2 protein from the Wikipathways Pathways 2014 dataset. | |
WikiPathways Pathways 2024 | pathways involving ATXN2 protein from the WikiPathways Pathways 2024 dataset. | |