Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about ATP7B: 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.
ATP7B is a gene implicated in neurodegeneration research. Key relationships include: implicated in, interacts with. Associated with Aging, Als, Alzheimer. Connected to 20 entities in the SciDEX knowledge graph.
| Gene Symbol | ATP7B |
| Chromosome | 13q14.3. |
| Function | is an important component in the neurobiology of neurodegenerative diseases. |
| Primary Expression | hepatocytes, where it [@czonkowska2018] supports both copper incorporation into ceruloplasmin and biliary copper excretion |
| Molecular Weight | 165 kDa |
| Amino Acids | 1465 aa |
| Exons | 21 |
| GeneCards | ATP7B |
| Human Protein Atlas | ATP7B |
| H1069Q | Missense |
| R778L | Missense |
| A874V | Missense |
| 2299insC | Frameshift |
| Feature | Wilson Disease |
| Tremor | Wing-beating tremor |
| Associated Diseases | Aging, Als, Alzheimer, Amyotrophic Lateral Sclerosis, Ataxia, Cirrhosis |
| Interactions | CP |
| KG Connections | 23 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
ATP7B["ATP7B Gene"]
ATP7B_protein["ATP7B Protein"]
CP["Ceruloplasmin (CP)"]
copper_transport["Copper Transport"]
copper_accumulation["Copper Accumulation"]
oxidative_stress["Oxidative Stress"]
mitochondrial_dysfunction["Mitochondrial Dysfunction"]
neuronal_death["Neuronal Death"]
wilsons_disease["Wilson's Disease"]
parkinsons["Parkinson's Disease"]
alzheimers["Alzheimer's Disease"]
als["Amyotrophic Lateral Sclerosis"]
app["APP Protein"]
sod1["SOD1 Protein"]
chaperone_response["Protein Folding Response"]
ATP7B -->|"encodes"| ATP7B_protein
ATP7B_protein -->|"regulates"| copper_transport
ATP7B_protein -->|"interacts with"| CP
copper_transport -->|"dysfunction leads to"| copper_accumulation
copper_accumulation -->|"triggers"| oxidative_stress
oxidative_stress -->|"causes"| mitochondrial_dysfunction
mitochondrial_dysfunction -->|"leads to"| neuronal_death
ATP7B -->|"mutations cause"| wilsons_disease
ATP7B -->|"implicated in"| parkinsons
ATP7B -->|"associated with"| alzheimers
ATP7B -->|"linked to"| als
alzheimers -->|"involves"| app
als -->|"involves"| sod1
oxidative_stress -->|"activates"| chaperone_response
style ATP7B fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px
style copper_transport fill:#1b5e20
style CP fill:#4a1a6b
style chaperone_response fill:#1b5e20
style copper_accumulation fill:#ef5350
style oxidative_stress fill:#ef5350
style mitochondrial_dysfunction fill:#ef5350
style neuronal_death fill:#ef5350
style wilsons_disease fill:#7d4200
style parkinsons fill:#7d4200
style alzheimers fill:#7d4200
style als fill:#7d4200
style app fill:#4a1a6b
style sod1 fill:#4a1a6b| Target | Relation | Type | Str |
|---|---|---|---|
| copper homeostasis | regulates | process | 0.88 |
| Ferroptosis | regulates | process | 0.75 |
| Cirrhosis | implicated_in | disease | 0.65 |
| Ataxia | implicated_in | disease | 0.65 |
| Amyotrophic Lateral Sclerosis | implicated_in | disease | 0.65 |
| Aging | implicated_in | disease | 0.65 |
| Parkinson | implicated_in | disease | 0.65 |
| Als | implicated_in | disease | 0.65 |
| Alzheimer | implicated_in | disease | 0.65 |
| Neurodegeneration | implicated_in | disease | 0.65 |
| APP | implicated_in | gene | 0.60 |
| SOD1 | implicated_in | gene | 0.60 |
| DGAT1 | causes | gene | 0.60 |
| ALZHEIMER | implicated_in | gene | 0.60 |
| AMYLOID | implicated_in | gene | 0.60 |
| ALZHEIMER'S DISEASE | implicated_in | gene | 0.60 |
| AMYOTROPHIC LATERAL SCLEROSIS | implicated_in | gene | 0.60 |
| Oxidative Stress | implicated_in | pathway | 0.60 |
| Chaperone | implicated_in | pathway | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| CP | interacts_with | protein | 0.70 |
| ATP7A | translocates_to | gene | 0.60 |
| NEURODEGENERATION | implicated_in | gene | 0.60 |
| OXIDATIVE STRESS | implicated_in | gene | 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 | ||||