gene

ATXN5

Entity Detail — Knowledge Graph Node

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This page aggregates everything SciDEX knows about ATXN5: 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.

0Connections

0Hypotheses

0Analyses

0Outgoing

0Incoming

0Experiments

0Debates

Summary

Comprehensive information on ATXN5 gene, its protein product, role in spinocerebellar ataxia type 5 (SCA5), and implications for neurodegenerative disease mechanisms

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🧬 Gene Info

Gene Symbol	ATXN5
Full Name	Ataxin-5
Chromosome	14q32.1
Function	encodes a protein of 828 amino acids that is the pathogenic driver of Spinocerebellar Ataxia type 5 (SCA5), an autosomal dominant neurodegenerative disorder characterized by pure cerebellar ataxia.
Primary Expression	various brain regions:
Amino Acids	828 aa
Ensembl ID	ENSG00000145833
GeneCards	ATXN5
Human Protein Atlas	ATXN5
Nuclear receptor coactivator	Interacts with nuclear receptors and coactivators
Gene expression control	Regulates neuronal gene expression programs
Chromatin remodeling	May influence chromatin structure
Proteasome interactions	Associates with the ubiquitin-proteasome system
Autophagy regulation	Contributes to cellular clearance pathways
Protein homeostasis	Maintains neuronal protein equilibrium
Associated Diseases	neurodegeneration
Databases	GeneCards UniProt NCBI Gene HPA STRING

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

ATXN5 - Ataxin-5

gene · 2089 words

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Pathway Diagram

graph TD
    ATXN5["ATXN5 gene"]
    ATXN5_protein["Ataxin-5 protein"]
    polyQ_expansion["Polyglutamine expansion"]
    protein_aggregation["Protein aggregation"]
    cellular_toxicity["Cellular toxicity"]
    neurodegeneration["Neurodegeneration"]
    cerebellar_ataxia["Cerebellar ataxia"]
    purkinje_cells["Purkinje cell death"]
    motor_dysfunction["Motor dysfunction"]
    transcriptional_dysregulation["Transcriptional dysregulation"]
    mitochondrial_dysfunction["Mitochondrial dysfunction"]
    oxidative_stress["Oxidative stress"]
    autophagy_impairment["Autophagy impairment"]
    chaperone_system["Chaperone system"]
    neuroprotection["Neuroprotective pathways"]

    ATXN5 -->|"encodes"| ATXN5_protein
    ATXN5_protein -->|"mutation leads to"| polyQ_expansion
    polyQ_expansion -->|"causes"| protein_aggregation
    protein_aggregation -->|"triggers"| cellular_toxicity
    cellular_toxicity -->|"leads to"| neurodegeneration
    neurodegeneration -->|"manifests as"| cerebellar_ataxia
    cerebellar_ataxia -->|"causes"| purkinje_cells
    purkinje_cells -->|"results in"| motor_dysfunction
    protein_aggregation -->|"disrupts"| transcriptional_dysregulation
    cellular_toxicity -->|"impairs"| mitochondrial_dysfunction
    mitochondrial_dysfunction -->|"generates"| oxidative_stress
    protein_aggregation -->|"overwhelms"| autophagy_impairment
    chaperone_system -->|"attempts to prevent"| protein_aggregation
    neuroprotection -->|"counters"| cellular_toxicity

    classDef central fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#fff
    classDef pathological fill:#3a1a1a,stroke:#ef5350,stroke-width:2px,color:#fff
    classDef disease fill:#3a2a1a,stroke:#ffa726,stroke-width:2px,color:#fff
    classDef protective fill:#1a3a2a,stroke:#81c784,stroke-width:2px,color:#fff
    classDef regulatory fill:#2a1a3a,stroke:#ce93d8,stroke-width:2px,color:#fff

    class ATXN5 central
    class polyQ_expansion,protein_aggregation,cellular_toxicity,transcriptional_dysregulation,mitochondrial_dysfunction,oxidative_stress,autophagy_impairment,purkinje_cells pathological
    class cerebellar_ataxia,motor_dysfunction,neurodegeneration disease
    class chaperone_system,neuroprotection protective
    class ATXN5_protein regulatory

Outgoing (0)

Target	Relation	Type	Str
No outgoing edges

Incoming (0)

Source	Relation	Type	Str
No incoming edges

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning ATXN5 in their description or question text

No additional research found