Identity
HGNC
LOCATION
9q34.13
LOCUSID
ALIAS
ALS4,AOA2,SCAN2,SCAR1,Sen1,bA479K20.2
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: 23064
MIM: 608465
HGNC: 445
Ensembl: ENSG00000107290
Variants:
dbSNP: 23064
ClinVar: 23064
TCGA: ENSG00000107290
COSMIC: SETX
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000107290 | ENST00000224140 | Q7Z333 |
| ENSG00000107290 | ENST00000436441 | X6RI79 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38717338 | 2024 | Senataxin deficiency disrupts proteostasis through nucleolar ncRNA-driven protein aggregation. | 0 |
| 38717338 | 2024 | Senataxin deficiency disrupts proteostasis through nucleolar ncRNA-driven protein aggregation. | 0 |
| 36864660 | 2023 | Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor. | 10 |
| 37832548 | 2023 | Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2. | 2 |
| 38109176 | 2023 | Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes. | 0 |
| 36864660 | 2023 | Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor. | 10 |
| 37832548 | 2023 | Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2. | 2 |
| 38109176 | 2023 | Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes. | 0 |
| 35042798 | 2022 | Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2. | 9 |
| 35045161 | 2022 | Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4. | 17 |
| 35235452 | 2022 | ΔNp63-Senataxin circuit controls keratinocyte differentiation by promoting the transcriptional termination of epidermal genes. | 11 |
| 36271102 | 2022 | Transcriptional targets of senataxin and E2 promoter binding factors are associated with neuro-degenerative pathways during increased autophagic flux. | 1 |
| 36543851 | 2022 | FANCD2 promotes mitotic rescue from transcription-mediated replication stress in SETX-deficient cancer cells. | 5 |
| 35042798 | 2022 | Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2. | 9 |
| 35045161 | 2022 | Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4. | 17 |
Citation
Dessen P
SETX (senataxin)
Atlas Genet Cytogenet Oncol Haematol. 2007-08-01
Online version: http://atlasgeneticsoncology.org/gene/47714/setx
