gene

ATXN3

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about ATXN3: 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.

163Connections

0Hypotheses

0Analyses

50Outgoing

29Incoming

0Experiments

0Debates

Summary

Gene profile: ATXN3 - deubiquitinating enzyme linked to Spinocerebellar Ataxia Type 3 (SCA3/Machado-Joseph Disease)

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🧬 Gene Info

Gene Symbol	ATXN3
Aliases	SCA3/Machado-Joseph Disease
Chromosome	14q32.12
Protein Type	Protease
Function	Polyubiquitin chain cleavage — Preferentially cleaves K63-linked chains
Molecular Weight	42 kDa
Amino Acids	364 aa
Pathways	Autophagy
UniProt ID	P54252
GeneCards	ATXN3
Human Protein Atlas	ATXN3
Josephin domain	catalytic domain with deubiquitinase activity (N-terminal)
Polyglutamine tract	CAG repeat region (normal <44; pathogenic >52)
Ubiquitin-interacting motifs (UIMs)	typically 2-3 UIMs that bind ubiquitin chains
Nuclear localization signal	regulates subcellular distribution
Associated Diseases	Als, Alzheimer's disease, Ataxia, dementia, frontotemporal
Interactions	AND, ATM, ATXN2, BECN1, BMAL1, DNA
KG Connections	163 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

🔮 Predicted Structure: ATXN3 — AlphaFold P54252 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (3)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    ATXN3["<b>ATXN3</b>"]
    Cancer{"Cancer"}
    ATXN3 -->|"regulates"| Cancer
    Als{"Als"}
    ATXN3 -->|"regulates"| Als
    Parkinson{"Parkinson"}
    ATXN3 -->|"associated with"| Parkinson
    ATXN3 -->|"associated with"| Als
    Ataxia{"Ataxia"}
    ATXN3 -->|"associated with"| Ataxia
    BECN1["BECN1"]
    ATXN3 -->|"regulates"| BECN1
    Autophagy(["Autophagy"])
    ATXN3 -->|"regulates"| Autophagy
    MAP1LC3B["MAP1LC3B"]
    ATXN3 -->|"regulates"| MAP1LC3B
    PRKN["PRKN"]
    ATXN3 -->|"associated with"| PRKN
    Mitophagy(["Mitophagy"])
    ATXN3 -->|"associated with"| Mitophagy
    neurodegeneration["neurodegeneration"]
    ATXN3 -->|"implicated in"| neurodegeneration
    LC3B["LC3B"]
    LC3B -->|"regulates"| ATXN3
    MAP1LC3B -->|"regulates"| ATXN3
    VCP["VCP"]
    VCP -->|"regulates"| ATXN3
    UFM1["UFM1"]
    UFM1 -->|"regulates"| ATXN3
    UBIQUITIN["UBIQUITIN"]
    UBIQUITIN -->|"regulates"| ATXN3
    BECN1 -->|"regulates"| ATXN3
    AUTOPHAGY["AUTOPHAGY"]
    AUTOPHAGY -->|"regulates"| ATXN3
    PARKINSON_S_DISEASE["PARKINSON'S DISEASE"]
    PARKINSON_S_DISEASE -->|"associated with"| ATXN3
    MITOPHAGY["MITOPHAGY"]
    MITOPHAGY -->|"associated with"| ATXN3
    PARKIN["PARKIN"]
    PARKIN -->|"associated with"| ATXN3
    UBIQUITIN -->|"associated with"| ATXN3
    style ATXN3 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0

Outgoing (134)

Target	Relation	Type	Str
BECN1	associated_with	gene	0.95
oxidative stress response	participates_in	pathway	0.80
SCA3	activates	gene	0.70
neurodegeneration	activates	disease	0.70
Als	therapeutic_target	disease	0.65
Ms	associated_with	disease	0.65
Ataxia	expressed_in	disease	0.65
Cancer	regulates	disease	0.65
Als	regulates	disease	0.65
Amyotrophic Lateral Sclerosis	therapeutic_target	disease	0.65
Neurodegeneration	associated_with	disease	0.65
Parkinson	associated_with	disease	0.65
Als	associated_with	disease	0.65
Ataxia	associated_with	disease	0.65
Ataxia	causes	disease	0.65
Spinocerebellar Ataxia	causes	disease	0.65
Neurodegeneration	stabilizes	disease	0.65
cerebellum	expressed_in	brain_region	0.60
IRF1	activates	gene	0.60
STAT3	activates	gene	0.60
cancer	activates	disease	0.60
IRF1	expressed_in	gene	0.60
cancer	expressed_in	disease	0.60
SCA3	regulates	gene	0.60
CHD4	regulates	gene	0.60
SCA3	interacts_with	gene	0.60
neurodegeneration	associated_with	disease	0.60
dementia	associated_with	disease	0.60
TNFRSF13C	stabilizes	gene	0.60
ALS	associated_with	disease	0.60
GPNMB	causes	gene	0.60
IL34	causes	gene	0.60
PILRA	causes	gene	0.60
SHARPIN	causes	gene	0.60
STX6	causes	gene	0.60
TREM2	causes	gene	0.60
G3BP1	interacts_with	gene	0.60
G3BP1	protects_against	gene	0.60
neurodegeneration	interacts_with	disease	0.60
PNKP	activates	gene	0.60
PNKP	inhibits	gene	0.60
neurodegeneration	expressed_in	disease	0.60
neuroinflammation	expressed_in	disease	0.60
UCHL1	interacts_with	gene	0.60
USP14	interacts_with	gene	0.60
PTCH1	inhibits	gene	0.60
SHH	inhibits	gene	0.60
PTCH1	expressed_in	gene	0.60
SHH	expressed_in	gene	0.60
SCA3	protects_against	gene	0.60

Incoming (29)

Source	Relation	Type	Str
BECN1	interacts_with	gene	0.80
ATXN2	causes	gene	0.70
ATXN2	interacts_with	gene	0.60
ATXN2	protects_against	gene	0.60
ATXN1	causes	gene	0.60
ATM	activates	gene	0.60
ATM	inhibits	gene	0.60
AUTOPHAGY	regulates	gene	0.60
OLIGODENDROCYTE	associated_with	gene	0.60
GAIN	associated_with	gene	0.60
TNFRSF13C	associated_with	gene	0.60
SCA3	therapeutic_target	gene	0.60
NEURODEGENERATION	associated_with	gene	0.60
BECN1	regulates	gene	0.60
PARKIN	associated_with	gene	0.60
UBIQUITIN	associated_with	gene	0.60
MITOPHAGY	associated_with	gene	0.60
UBIQUITIN	regulates	gene	0.60
PARKINSON'S DISEASE	associated_with	gene	0.60
MAP1LC3B	regulates	gene	0.60
VCP	regulates	gene	0.60
UFM1	regulates	gene	0.60
REST	expressed_in	gene	0.60
LC3B	regulates	gene	0.60
CIRCADIAN RHYTHM	expressed_in	gene	0.60
sca3	causes	gene	0.50
sca3	expressed_in	gene	0.50
sca3	associated_with	gene	0.50
ATG14	co_expressed_with	gene	0.50

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