gene

ATP7B

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

23Connections
0Hypotheses
0Analyses
19Outgoing
4Incoming

Summary

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.

View on Wiki →

🧬 Gene Info
Gene SymbolATP7B
Chromosome13q14.3.
Functionis an important component in the neurobiology of neurodegenerative diseases.
Primary Expressionhepatocytes, where it [@czonkowska2018] supports both copper incorporation into ceruloplasmin and biliary copper excretion
Molecular Weight165 kDa
Amino Acids1465 aa
Exons21
GeneCardsATP7B
Human Protein AtlasATP7B
H1069QMissense
R778LMissense
A874VMissense
2299insCFrameshift
FeatureWilson Disease
TremorWing-beating tremor
Associated DiseasesAging, Als, Alzheimer, Amyotrophic Lateral Sclerosis, Ataxia, Cirrhosis
InteractionsCP
KG Connections23 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

ATP7B

gene · 2286 words

Copper Dyshomeostasis in Neurodegeneration

mechanism · 4255 words

metal-ion-synuclein-mitochondria-axis-parkinsons

general · 4097 words

Metal Homeostasis Dysfunction Comparison Across Neurodegenerative Diseases

mechanism · 3711 words

Neuroferritinopathy

disease · 3461 words

Wilson Disease Neurodegeneration: Mechanism and Therapeutic Response

experiment · 3077 words

Pathway Diagram

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

Outgoing (19)

TargetRelationTypeStr
copper homeostasisregulatesprocess0.88
Ferroptosisregulatesprocess0.75
Cirrhosisimplicated_indisease0.65
Ataxiaimplicated_indisease0.65
Amyotrophic Lateral Sclerosisimplicated_indisease0.65

Incoming (4)

SourceRelationTypeStr
CPinteracts_withprotein0.70
ATP7Atranslocates_togene0.60
NEURODEGENERATIONimplicated_ingene0.60
OXIDATIVE STRESSimplicated_ingene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found