HGNC Family | Ataxins (ATXN) |
Name | ataxin 7 |
Description | The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] |
Summary |
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Structural analyses have revealed conserved domains—including a zinc‐binding motif—that are essential for its incorporation into these complexes and for its transcription‐regulatory function, as further supported by studies identifying novel ATXN7 protein–protein interactions in ataxia‐related networks."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn its disease‐associated polyglutamine–expanded form, ATXN7 exhibits altered conformational dynamics that promote misfolding and aggregation. Biophysical and cell‐based investigations have demonstrated that expansion of the polyglutamine tract—often modulated by a preceding alanine‐rich region—enhances the propensity of ATXN7 to form nuclear inclusions. Post‐translational modifications such as SUMOylation regulate both its aggregation behavior and its clearance through the ubiquitin–proteasome system and autophagy, while pathogenic forms of ATXN7 can sequester deubiquitinase components (for instance, USP22) thereby impairing histone H2B deubiquitination. Collectively, these studies underscore how altered ATXN7 structure and misregulated clearance mechanisms may contribute to transcriptional dysregulation and cellular toxicity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "15"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its canonical nuclear functions, ATXN7 has been implicated in critical developmental and cytoplasmic roles. In vivo models, including zebrafish, demonstrate that proper levels of ATXN7 are required for the differentiation of photoreceptors and cerebellar neurons, which is consistent with the selective neuronal vulnerability observed in spinocerebellar ataxia type 7 (SCA7). In addition, cytoplasmic ATXN7 dynamically shuttles between subcellular compartments and associates with microtubules to stabilize cytoskeletal organization. Recent work has also uncovered non‐neuronal functions, such as the regulation by a circular RNA derived from ATXN7 (circATXN7), which modulates NF‐κB signaling and cell fate decisions in T lymphocytes. Furthermore, ATXN7 aggregates have been shown to recruit other RNA‐binding proteins like FUS, potentially exacerbating cellular dysfunction."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "16", "end_ref": "19"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Dominique Helmlinger, Sara Hardy, Souphatta Sasorith, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddh139"}], "href": "https://doi.org/10.1093/hmg/ddh139"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15115762"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15115762"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Vikas B Palhan, Shiming Chen, Guang-Hua Peng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0503505102"}], "href": "https://doi.org/10.1073/pnas.0503505102"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15932940"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15932940"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Anna-Lena Ström, Lars Forsgren, Monica Holmberg "}, {"type": "b", "children": [{"type": "t", "text": "A role for both wild-type and expanded ataxin-7 in transcriptional regulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Dis (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nbd.2005.04.018"}], "href": "https://doi.org/10.1016/j.nbd.2005.04.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15936949"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15936949"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Tara L Burke, Jaime L Miller, Patrick A Grant "}, {"type": "b", "children": [{"type": "t", "text": "Direct inhibition of Gcn5 protein catalytic activity by polyglutamine-expanded ataxin-7."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M113.487538"}], "href": "https://doi.org/10.1074/jbc.M113.487538"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24129567"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24129567"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Shaun D McCullough, Xiaojiang Xu, Sharon Y R Dent, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1218331110"}], "href": "https://doi.org/10.1073/pnas.1218331110"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23236151"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23236151"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Juliette J Kahle, Natali Gulbahce, Chad A Shaw, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia."}]}, {"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/ddq496"}], "href": "https://doi.org/10.1093/hmg/ddq496"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21078624"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21078624"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jacques Bonnet, Ying-Hui Wang, Gianpiero Spedale, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The structural plasticity of SCA7 domains defines their differential nucleosome-binding properties."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Rep (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/embor.2010.98"}], "href": "https://doi.org/10.1038/embor.2010.98"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20634802"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20634802"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Alexandre Janer, Andreas Werner, Junko Takahashi-Fujigasaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddp478"}], "href": "https://doi.org/10.1093/hmg/ddp478"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19843541"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19843541"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "C Zander, J Takahashi, K H El Hachimi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/10.22.2569"}], "href": "https://doi.org/10.1093/hmg/10.22.2569"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11709544"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11709544"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Morwena Latouche, Pascal Fragner, Elodie Martin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Neurosci (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mcn.2005.10.013"}], "href": "https://doi.org/10.1016/j.mcn.2005.10.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16325416"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16325416"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Jun-Ye Hong, Dong-Dong Wang, Wei Xue, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural and dynamic studies reveal that the Ala-rich region of ataxin-7 initiates α-helix formation of the polyQ tract but suppresses its aggregation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-019-43926-9"}], "href": "https://doi.org/10.1038/s41598-019-43926-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31097749"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31097749"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Martina Marinello, Andreas Werner, Mariagiovanna Giannone, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dis Model Mech (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/dmm.036145"}], "href": "https://doi.org/10.1242/dmm.036145"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30559154"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30559154"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Xin Yu, Abiodun Ajayi, Narasimha Rao Boga, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential degradation of full-length and cleaved ataxin-7 fragments in a novel stable inducible SCA7 model."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Neurosci (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12031-012-9722-8"}], "href": "https://doi.org/10.1007/s12031-012-9722-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22367614"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22367614"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Hui Yang, Shuai Liu, Wen-Tian He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aggregation of Polyglutamine-expanded Ataxin 7 Protein Specifically Sequesters Ubiquitin-specific Protease 22 and Deteriorates Its Deubiquitinating Function in the Spt-Ada-Gcn5-Acetyltransferase (SAGA) Complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M114.631663"}], "href": "https://doi.org/10.1074/jbc.M114.631663"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26195632"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26195632"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Xianjiang Lan, Evangelia Koutelou, Andria C Schibler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Poly(Q) Expansions in ATXN7 Affect Solubility but Not Activity of the SAGA Deubiquitinating Module."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.01454-14"}], "href": "https://doi.org/10.1128/MCB.01454-14"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25755283"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25755283"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Constantin Yanicostas, Elisa Barbieri, Masahiko Hibi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons."}]}, {"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.0050705"}], "href": "https://doi.org/10.1371/journal.pone.0050705"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23226359"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23226359"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Yoko Nakamura, Kazuhiko Tagawa, Tsutomu Oka, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddr539"}], "href": "https://doi.org/10.1093/hmg/ddr539"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22100762"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22100762"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Chi Zhou, Wenxin Li, Zhenxing Liang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-024-44779-1"}], "href": "https://doi.org/10.1038/s41467-024-44779-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38216551"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38216551"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Frida Niss, Wajiha Zaidi, Einar Hallberg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Neurosci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mcn.2020.103584"}], "href": "https://doi.org/10.1016/j.mcn.2020.103584"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33338633"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33338633"}]}]}]}
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Synonyms | SCA7, ADCAII, OPCA3, SGF73 |
Proteins | ATX7_HUMAN |
NCBI Gene ID | 6314 |
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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ATXN7 has 6,271 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 120 datasets.
Click the + buttons to view associations for ATXN7 from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
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Achilles Cell Line Gene Essentiality Profiles | cell lines with fitness changed by ATXN7 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset. | |
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CCLE Cell Line Proteomics | Cell lines associated with ATXN7 protein from the CCLE Cell Line Proteomics dataset. | |
CellMarker Gene-Cell Type Associations | cell types associated with ATXN7 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 ATXN7 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of ATXN7 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 ATXN7 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 ATXN7 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing ATXN7 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing ATXN7 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores | cellular components containing ATXN7 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with ATXN7 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 ATXN7 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
CORUM Protein Complexes | protein complexs containing ATXN7 protein from the CORUM Protein Complexes dataset. | |
COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of ATXN7 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with ATXN7 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with ATXN7 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with ATXN7 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
dbGAP Gene-Trait Associations | traits associated with ATXN7 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 ATXN7 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 ATXN7 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving ATXN7 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving ATXN7 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with ATXN7 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 ATXN7 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 ATXN7 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with ATXN7 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 ATXN7 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 ATXN7 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of ATXN7 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 ATXN7 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GAD Gene-Disease Associations | diseases associated with ATXN7 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
GAD High Level Gene-Disease Associations | diseases associated with ATXN7 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 ATXN7 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with ATXN7 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 ATXN7 from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GlyGen Glycosylated Proteins | ligands (chemical) binding ATXN7 protein from the GlyGen Glycosylated Proteins dataset. | |
GO Biological Process Annotations 2015 | biological processes involving ATXN7 gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving ATXN7 gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving ATXN7 gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing ATXN7 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing ATXN7 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Cellular Component Annotations 2025 | cellular components containing ATXN7 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by ATXN7 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
GWASdb SNP-Disease Associations | diseases associated with ATXN7 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
GWASdb SNP-Phenotype Associations | phenotypes associated with ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HPM Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of ATXN7 protein relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset. | |
HPO Gene-Disease Associations | phenotypes associated with ATXN7 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 ATXN7 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with ATXN7 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by ATXN7 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for ATXN7 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of ATXN7 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
KEA Substrates of Kinases | kinases that phosphorylate ATXN7 protein from the curated KEA Substrates of Kinases dataset. | |
Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of ATXN7 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of ATXN7 gene from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
LOCATE Curated Protein Localization Annotations | cellular components containing ATXN7 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 ATXN7 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by ATXN7 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MiRTarBase microRNA Targets | microRNAs targeting ATXN7 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 ATXN7 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by ATXN7 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of ATXN7 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 ATXN7 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
NURSA Protein Complexes | protein complexs containing ATXN7 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
OMIM Gene-Disease Associations | phenotypes associated with ATXN7 gene from the curated OMIM Gene-Disease Associations dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for ATXN7 from the Pathway Commons Protein-Protein Interactions dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of ATXN7 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 ATXN7 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving ATXN7 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving ATXN7 protein from the Wikipathways PFOCR 2024 dataset. | |
Reactome Pathways 2014 | pathways involving ATXN7 protein from the Reactome Pathways dataset. | |
Reactome Pathways 2024 | pathways involving ATXN7 protein from the Reactome Pathways 2024 dataset. | |
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 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 ATXN7 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of ATXN7 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of ATXN7 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of ATXN7 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of ATXN7 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of ATXN7 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 ATXN7 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 ATXN7 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of ATXN7 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of ATXN7 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with ATXN7 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 ATXN7 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |