Identity
HGNC
LOCATION
3p14.1
LOCUSID
ALIAS
ADCAII,OPCA3,SCA7,SGF73
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6314
MIM: 607640
HGNC: 10560
Ensembl: ENSG00000285399
Variants:
dbSNP: 6314
ClinVar: 6314
TCGA: ENSG00000285399
COSMIC: ATXN7
RNA/Proteins
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38216551 | 2024 | Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death. | 2 |
| 38216551 | 2024 | Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death. | 2 |
| 33338633 | 2021 | Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function. | 8 |
| 34012225 | 2021 | Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7. | 1 |
| 33338633 | 2021 | Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function. | 8 |
| 34012225 | 2021 | Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7. | 1 |
| 32558018 | 2020 | Deciphering the natural history of SCA7 in children. | 4 |
| 32558018 | 2020 | Deciphering the natural history of SCA7 in children. | 4 |
| 30559154 | 2019 | SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models. | 12 |
| 31097749 | 2019 | 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. | 6 |
| 30559154 | 2019 | SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models. | 12 |
| 31097749 | 2019 | 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. | 6 |
| 28585930 | 2017 | Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression. | 9 |
| 28597910 | 2017 | A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population. | 0 |
| 28645341 | 2017 | Spinocerebellar Ataxia. | 0 |
Citation
Dessen P
ATXN7 (ataxin 7)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54145/chromosome-explorer/new-content/
