Identity
HGNC
LOCATION
14q32.12
LOCUSID
ALIAS
AT3,ATX3,JOS,MJD,MJD1,SCA3
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: 4287
MIM: 607047
HGNC: 7106
Ensembl: ENSG00000066427
Variants:
dbSNP: 4287
ClinVar: 4287
TCGA: ENSG00000066427
COSMIC: ATXN3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37848650 | 2024 | Cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3. | 0 |
| 38224924 | 2024 | 5-methylcytosine-mediated upregulation of circular RNA 0102913 augments malignant properties of colorectal cancer cells through a microRNA-571/Rac family small GTPase 2 axis. | 0 |
| 38423193 | 2024 | Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease. | 0 |
| 37848650 | 2024 | Cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3. | 0 |
| 38224924 | 2024 | 5-methylcytosine-mediated upregulation of circular RNA 0102913 augments malignant properties of colorectal cancer cells through a microRNA-571/Rac family small GTPase 2 axis. | 0 |
| 38423193 | 2024 | Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease. | 0 |
| 35034258 | 2023 | Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3. | 2 |
| 36149513 | 2023 | Predominant motor neuron involvement as a manifestation of pathogenic (full range) ATXN3 mutations. | 0 |
| 36370172 | 2023 | Structural alterations of spinocerebellar ataxias type 3: from pre-symptomatic to symptomatic stage. | 2 |
| 36971114 | 2023 | ATXN3 controls DNA replication and transcription by regulating chromatin structure. | 1 |
| 37460341 | 2023 | Involvement of Ataxin-3 (ATXN3) in the malignant progression of pancreatic cancer via deubiquitinating HDAC6. | 1 |
| 38038129 | 2023 | CRISPR screening identifies the deubiquitylase ATXN3 as a PD-L1-positive regulator for tumor immune evasion. | 1 |
| 35034258 | 2023 | Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3. | 2 |
| 36149513 | 2023 | Predominant motor neuron involvement as a manifestation of pathogenic (full range) ATXN3 mutations. | 0 |
| 36370172 | 2023 | Structural alterations of spinocerebellar ataxias type 3: from pre-symptomatic to symptomatic stage. | 2 |
Citation
Dessen P
ATXN3 (ataxin 3)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/41368/atxn3-(ataxin-3)
