gene

ATXN6

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about ATXN6: 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.

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0Hypotheses

0Analyses

0Outgoing

0Incoming

0Experiments

0Debates

Summary

Comprehensive information on ATXN6 gene, its protein product Ataxin-6, role in spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and implications for neurodegenerative disease mechanisms

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🧬 Gene Info

Gene Symbol	ATXN6
Full Name	Ataxin-6
Chromosome	12p13.31
Function	encodes a protein of 818 amino acids that is central to the pathogenesis of Spinocerebellar Ataxia type 6 (SCA6), one of the most common autosomal dominant cerebellar ataxias worldwide.
Amino Acids	818 aa
Ensembl ID	ENSG00000169189
GeneCards	ATXN6
Human Protein Atlas	ATXN6
Calcium influx	Mediates depolarization-triggered calcium entry
Fast synaptic transmission	Essential for reliable synaptic signaling
Gene expression	Calcium influx triggers downstream signaling cascades
Purkinje cell output	Regulate the sole output of the cerebellar cortex
Synaptic plasticity	Mediate long-term depression (LTD) at parallel fiber-Purkinje cell synapses
Motor learning	Essential for motor coordination and adaptation
Cerebellum	Highest expression in Purkinje cells (the primary cell type affected in SCA6)
Associated Diseases	neurodegeneration
Databases	GeneCards UniProt NCBI Gene HPA STRING

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

ATXN6 - Ataxin-6

gene · 1319 words

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Pathway Diagram

graph TD
    ATXN6["ATXN6 gene"]
    CAG_repeats["CAG repeat expansion"]
    mutant_protein["Mutant ATXN6 protein"]
    protein_misfolding["Protein misfolding"]
    aggregates["Protein aggregates"]
    ER_stress["ER stress"]
    UPR["Unfolded protein response"]
    calcium_dysreg["Calcium dysregulation"]
    purkinje_dysfunction["Purkinje cell dysfunction"]
    cerebellar_atrophy["Cerebellar atrophy"]
    SCA6["Spinocerebellar ataxia type 6"]
    ataxia["Progressive ataxia"]
    neurodegeneration["Neurodegeneration"]
    chaperones["Molecular chaperones"]
    autophagy["Autophagy pathway"]

    ATXN6 -->|"contains"| CAG_repeats
    CAG_repeats -->|"produces"| mutant_protein
    mutant_protein -->|"causes"| protein_misfolding
    protein_misfolding -->|"leads to"| aggregates
    aggregates -->|"triggers"| ER_stress
    ER_stress -->|"activates"| UPR
    mutant_protein -->|"disrupts"| calcium_dysreg
    calcium_dysreg -->|"impairs"| purkinje_dysfunction
    purkinje_dysfunction -->|"causes"| cerebellar_atrophy
    cerebellar_atrophy -->|"manifests as"| SCA6
    SCA6 -->|"characterized by"| ataxia
    cerebellar_atrophy -->|"results in"| neurodegeneration
    chaperones -->|"attempts to correct"| protein_misfolding
    autophagy -->|"clears"| aggregates

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

    class ATXN6 central
    class chaperones,autophagy,UPR protective
    class CAG_repeats,mutant_protein,protein_misfolding,aggregates,ER_stress,calcium_dysreg,purkinje_dysfunction,cerebellar_atrophy,neurodegeneration pathological
    class SCA6,ataxia disease

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 ATXN6 in their description or question text

No additional research found