Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about ALS4: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
ALS4 is a gene implicated in neurodegeneration research. Key relationships include: associated with, inhibits, regulates. Associated with ALS, Als, Amyotrophic Lateral Sclerosis. Connected to 92 entities in the SciDEX knowledge graph.
| Gene Symbol | SETX (formerly ALS4) |
| Full Name | Senataxin |
| Aliases | Alsin, Alsine |
| Chromosome | 9q34.13 |
| Protein Family | Superfamily 1 (SF1) DNA/RNA helicases |
| Function | is a rare, autosomal dominant form of amyotrophic lateral sclerosis characterized by juvenile onset and relatively slow progression. |
| Primary Expression | Highest in motor neurons, cerebellar Purkinje cells, hippocampal pyramidal neurons |
| Subcellular Localization | **C-terminal Domain**: Contains a SEN1N-like domain involved in transcriptional termination |
| Molecular Weight | 185 kDa |
| Amino Acids | 678 aa |
| Pathways | Autophagy, Dna Damage Response |
| UniProt ID | Q7Z6W4 |
| NCBI Gene ID | 29978 |
| Ensembl ID | ENSG00000183520 |
| OMIM | 602433 |
| Associated Diseases | ALS, Alzheimer's disease, Amyotrophic Lateral Sclerosis, Ataxia, Dementia |
| Known Drugs/Compounds | rapamycin |
| Interactions | SETX, LC3, AMYOTROPHIC LATERAL SCLEROSIS, STROKE, NEURON, AND |
| KG Connections | 212 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
flowchart TD
ALS4["ALS4"] -->|"associated with"| Amyotrophic_Lateral_Scler["Amyotrophic Lateral Sclerosis"]
ALS4["ALS4"] -->|"associated with"| Dementia["Dementia"]
ALS4["ALS4"] -->|"associated with"| Als["Als"]
ALS4["ALS4"] -->|"associated with"| Ataxia["Ataxia"]
ALS4["ALS4"] -->|"regulates"| Ms["Ms"]
ALS4["ALS4"] -.->|"inhibits"| Amyotrophic_Lateral_Scler["Amyotrophic Lateral Sclerosis"]
ALS4["ALS4"] -->|"therapeutic target"| Stroke["Stroke"]
ALS4["ALS4"] -->|"therapeutic target"| Als["Als"]
ALS4["ALS4"] -->|"associated with"| Frontotemporal_Dementia["Frontotemporal Dementia"]
ALS4["ALS4"] -->|"associated with"| Ftd["Ftd"]
ALS4["ALS4"] -->|"associated with"| Spinal_Muscular_Atrophy["Spinal Muscular Atrophy"]
ALS4["ALS4"] -->|"associated with"| Stroke["Stroke"]
style ALS4 fill:#4a1a6b,stroke:#333,color:#e0e0e0
style Amyotrophic_Lateral_Scler fill:#ef5350,stroke:#333,color:#e0e0e0
style Dementia fill:#ef5350,stroke:#333,color:#e0e0e0
style Als fill:#ef5350,stroke:#333,color:#e0e0e0
style Ataxia fill:#ef5350,stroke:#333,color:#e0e0e0
style Ms fill:#ef5350,stroke:#333,color:#e0e0e0
style Stroke fill:#ef5350,stroke:#333,color:#e0e0e0
style Frontotemporal_Dementia fill:#ef5350,stroke:#333,color:#e0e0e0
style Ftd fill:#ef5350,stroke:#333,color:#e0e0e0
style Spinal_Muscular_Atrophy fill:#ef5350,stroke:#333,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| Amyotrophic Lateral Sclerosis | associated_with | disease | 0.75 |
| Als | associated_with | disease | 0.75 |
| ALS | associated_with | disease | 0.75 |
| neurodegeneration | causes | disease | 0.70 |
| AMYOTROPHIC LATERAL SCLEROSIS | associated_with | gene | 0.70 |
| DNA | associated_with | gene | 0.70 |
| ALS | causes | disease | 0.70 |
| oxidative stress response | participates_in | pathway | 0.70 |
| neurons | expressed_in | cell_type | 0.70 |
| Spinal Muscular Atrophy | associated_with | disease | 0.65 |
| Dementia | associated_with | disease | 0.65 |
| Ataxia | associated_with | disease | 0.65 |
| Ms | regulates | disease | 0.65 |
| Amyotrophic Lateral Sclerosis | inhibits | disease | 0.65 |
| Stroke | therapeutic_target | disease | 0.65 |
| Als | therapeutic_target | disease | 0.65 |
| Frontotemporal Dementia | associated_with | disease | 0.65 |
| Ftd | associated_with | disease | 0.65 |
| Stroke | associated_with | disease | 0.65 |
| Als | regulates | disease | 0.65 |
| Spinocerebellar Ataxia | associated_with | disease | 0.65 |
| ALS | inhibits | disease | 0.65 |
| Stroke | inhibits | disease | 0.65 |
| Glaucoma | associated_with | disease | 0.65 |
| Als | inhibits | disease | 0.65 |
| DNMT1 | associated_with | gene | 0.60 |
| SMN1 | associated_with | gene | 0.60 |
| SETX | inhibits | gene | 0.60 |
| HTT | associated_with | gene | 0.60 |
| BECN1 | associated_with | gene | 0.60 |
| SETX | associated_with | gene | 0.60 |
| LC3 | associated_with | gene | 0.60 |
| ACTB | associated_with | gene | 0.60 |
| ATG7 | associated_with | gene | 0.60 |
| GABARAP | associated_with | gene | 0.60 |
| SETX | regulates | gene | 0.60 |
| WIPI2 | associated_with | gene | 0.60 |
| ULK1 | associated_with | gene | 0.60 |
| SQSTM1 | associated_with | gene | 0.60 |
| TFEB | associated_with | gene | 0.60 |
| HUNTINGTIN | associated_with | gene | 0.60 |
| ALS9 | associated_with | gene | 0.60 |
| TARDBP | associated_with | gene | 0.60 |
| ALS7 | associated_with | gene | 0.60 |
| ALS10 | associated_with | gene | 0.60 |
| SOD1 | associated_with | gene | 0.60 |
| SETX | causes | entity | 0.60 |
| ATG7 | activates | entity | 0.60 |
| BECN1 | activates | entity | 0.60 |
| DNMT1 | activates | entity | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| SETX | causes | gene | 0.95 |
| Setx Mutation C.1166T>C | biomarker_for | biomarker | 0.92 |
| SETX Mutations | causes | mechanism | 0.90 |
| R-Loop Levels | biomarker_for | biomarker | 0.90 |
| Mutant Setx (Leu389Ser) | causes | protein | 0.88 |
| Allele-Specific Silencing | treats | process | 0.85 |
| ACTB | associated_with | gene | 0.60 |
| GABARAP | associated_with | gene | 0.60 |
| ULK1 | associated_with | gene | 0.60 |
| WIPI2 | associated_with | gene | 0.60 |
| LC3 | associated_with | gene | 0.60 |
| BECN1 | associated_with | gene | 0.60 |
| HTT | associated_with | gene | 0.60 |
| ATG7 | associated_with | gene | 0.60 |
| SETX | associated_with | gene | 0.60 |
| SQSTM1 | associated_with | gene | 0.60 |
| SMN1 | associated_with | gene | 0.60 |
| DNMT1 | associated_with | gene | 0.60 |
| P62 | associated_with | gene | 0.60 |
| TFEB | associated_with | gene | 0.60 |
| SETX | inhibits | gene | 0.60 |
| HUNTINGTIN | associated_with | gene | 0.60 |
| ALS2 | associated_with | gene | 0.60 |
| FIG4 | associated_with | gene | 0.60 |
| FUS | associated_with | gene | 0.60 |
| ALS8 | associated_with | gene | 0.60 |
| ALSIN | associated_with | gene | 0.60 |
| SETX | regulates | gene | 0.60 |
| ACTB | activates | entity | 0.60 |
| MAP1LC3 | associated_with | gene | 0.60 |
| DNA | associated_with | gene | 0.60 |
| GENES | regulates | gene | 0.60 |
| DNA | therapeutic_target | gene | 0.60 |
| MTORC1 | associated_with | gene | 0.60 |
| NEURODEGENERATIVE DISORDERS | regulates | gene | 0.60 |
| NEURON | associated_with | gene | 0.60 |
| ALS | associated_with | gene | 0.60 |
| DNA | inhibits | gene | 0.60 |
| STROKE | inhibits | gene | 0.60 |
| NEURON | inhibits | gene | 0.60 |
| AND | regulates | gene | 0.60 |
| ALS | causes | entity | 0.60 |
| RNA | associated_with | gene | 0.60 |
| GABA | associated_with | gene | 0.60 |
| DEMENTIA | associated_with | gene | 0.60 |
| AUTOPHAGY | associated_with | gene | 0.60 |
| STROKE | therapeutic_target | gene | 0.60 |
| AMYOTROPHIC LATERAL SCLEROSIS | inhibits | gene | 0.60 |
| RNA | therapeutic_target | gene | 0.60 |
| rapamycin | targets | drug | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||