gene

SCA3

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about SCA3: 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.

134Connections

0Hypotheses

0Analyses

50Outgoing

47Incoming

0Experiments

0Debates

Summary

A gene referenced in 123 knowledge graph relationships. Key connections: participates_in oxidative stress response (pathway); associated_with Ataxia (disease); activates neurodegeneration (disease).

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🧬 Gene Info

Gene Symbol	SCA3
Full Name	ATXN3 (Ataxin-3)
Chromosome	14q32.1.
Function	is a 361-amino acid protein encoded by the ATXN3 gene located on chromosome 14q32.
Amino Acids	361 aa
UniProt ID	[Q9UHD8](https://www.uniprot.org/uniprotkb/Q9UHD8/entry)
GeneCards	SCA3
Human Protein Atlas	SCA3
N-terminal Josephin domain (JD)	A catalytic domain with deubiquitinating enzyme (DUB) activity
C-terminal polyglutamine (polyQ) tract	The pathogenic expansion occurs in this region
Multiple VCP/p97 binding motifs (VBM)	Involved in protein quality control
Nuclear localization signals (NLS)	Regulates subcellular trafficking
Protein quality control	Removing ubiquitin from misfolded proteins for degradation
Transcriptional regulation	Modulating histone ubiquitination
Stress response	Processing ubiquitin conjugates during cellular stress
Associated Diseases	Ataxia, Huntington, Huntington's disease, Ms, neurodegeneration
Interactions	ATM, ATXN3, CACNA1A, DNA, G3BP1, PNKP
KG Connections	119 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

SCA3 — ATXN3 (Ataxin-3)

gene · 1528 words

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Pathway Diagram

flowchart TD
    CAG["CAG Repeat Expansion"]
    ATXN3["Mutant Ataxin-3"]
    POLYQ["Polyglutamine Expansion"]
    MISFOLD["Protein Misfolding"]
    UPS["Ubiquitin Proteasome Stress"]
    INCL["Nuclear Inclusions"]
    TRANS["Transcription Dysregulation"]
    MITO["Mitochondrial Dysfunction"]
    OX["Oxidative Stress"]
    PURK["Purkinje Neuron Loss"]
    ATAX["Spinocerebellar Ataxia"]
    AUTO["Autophagy Enhancement Target"]
    CAG -->|"encodes"| ATXN3
    ATXN3 -->|"contains"| POLYQ
    POLYQ -->|"causes"| MISFOLD
    MISFOLD -->|"burdens"| UPS
    MISFOLD -->|"forms"| INCL
    INCL -->|"disrupts"| TRANS
    TRANS -->|"impairs"| MITO
    MITO -->|"raises"| OX
    OX -->|"damages"| PURK
    PURK -->|"causes"| ATAX
    AUTO -->|"clears"| MISFOLD
    AUTO -->|"reduces"| OX

Outgoing (87)

Target	Relation	Type	Str
benchmark_ot_ad_answer_key:SCA3	data_in	dataset_row	0.00
oxidative stress response	participates_in	pathway	0.80
Ataxia	associated_with	disease	0.75
VCP	interacts_with	gene	0.70
neurodegeneration	activates	disease	0.70
Neurodegeneration	implicated_in	disease	0.65
Neurodegeneration	regulates	disease	0.65
Huntington	associated_with	disease	0.65
Ms	regulates	disease	0.65
Ms	associated_with	disease	0.65
Ataxia	causes	disease	0.65
Spinocerebellar Ataxia	causes	disease	0.65
Neurodegeneration	biomarker_for	disease	0.65
Aging	biomarker_for	disease	0.65
Als	biomarker_for	disease	0.65
Amyotrophic Lateral Sclerosis	therapeutic_target	disease	0.65
Als	therapeutic_target	disease	0.65
Oligodendrocyte	associated_with	cell_type	0.60
Neuron	associated_with	cell_type	0.60
DNAJB1	regulates	gene	0.60
SQSTM1	associated_with	gene	0.60
BECN1	associated_with	gene	0.60
ATXN3	therapeutic_target	gene	0.60
Huntington's disease	associated_with	disease	0.60
PROTEIN MISFOLDING	associated_with	gene	0.60
AUTOPHAGY	regulates	gene	0.60
HUNTINGTON	therapeutic_target	gene	0.60
PARKINSON	therapeutic_target	gene	0.60
ALZHEIMER	therapeutic_target	gene	0.60
Neuron	therapeutic_target	cell_type	0.60
Oligodendrocyte	therapeutic_target	cell_type	0.60
App	therapeutic_target	protein	0.60
Oxidative Stress	biomarker_for	pathway	0.60
App	biomarker_for	protein	0.60
Huntington's disease	causes	disease	0.60
oligodendrocytes	expressed_in	cell_type	0.60
neurons	expressed_in	cell_type	0.60
autophagy pathway	participates_in	pathway	0.60
ubiquitin-proteasome	participates_in	pathway	0.60
Huntington's disease	interacts_with	disease	0.60
T cells	expressed_in	cell_type	0.60
neurodegeneration	causes	disease	0.60
neurodegeneration	regulates	disease	0.60
VCP	protects_against	gene	0.60
RAB7	implicated_in	gene	0.60
SPG7	regulates	gene	0.60
SCA7	co_expressed_with	gene	0.60
SPG7	co_expressed_with	gene	0.60
VCP	expressed_in	gene	0.60
neurodegeneration	interacts_with	disease	0.60

Incoming (47)

Source	Relation	Type	Str
benchmark_ot_ad_answer_key:SCA3	data_in	dataset_row	0.00
ATXN3	activates	gene	0.70
ATXN2	causes	gene	0.60
G3BP1	activates	gene	0.60
G3BP1	protects_against	gene	0.60
G3BP1	regulates	gene	0.60
G3BP1	associated_with	gene	0.60
CACNA1A	activates	gene	0.60
ATM	activates	gene	0.60
PNKP	activates	gene	0.60
ATXN3	protects_against	gene	0.60
CST3	associated_with	gene	0.60
NEURODEGENERATION	regulates	gene	0.60
OLIGODENDROCYTE	associated_with	gene	0.60
HSPA1A	regulates	gene	0.60
AND	regulates	gene	0.60
ATXN3	associated_with	gene	0.60
ATXN3	regulates	gene	0.60
ATXN3	interacts_with	gene	0.60
OXIDATIVE STRESS	regulates	gene	0.60
NEURODEGENERATIVE DISEASES	associated_with	gene	0.60
RNA	activates	gene	0.60
DNA	activates	gene	0.60
DNA	interacts_with	gene	0.60
CYCS	associated_with	gene	0.60
SOD1	associated_with	gene	0.60
P62	associated_with	gene	0.60
UBC	associated_with	gene	0.60
ATG3	associated_with	gene	0.60
ATG7	associated_with	gene	0.60
SQSTM1	associated_with	gene	0.60
BECN1	associated_with	gene	0.60
ATG5	implicated_in	gene	0.60
RAB5	implicated_in	gene	0.60
ATG1	implicated_in	gene	0.60
TNFRSF13C	associated_with	gene	0.60
RAN	associated_with	gene	0.60
LC3B	associated_with	gene	0.60
GAIN	regulates	gene	0.60
TNFRSF13C	encodes	gene	0.60
NFL	associated_with	gene	0.60
ATXN3	causes	gene	0.60
ATXN3	expressed_in	gene	0.60
ENDOSOME	associated_with	gene	0.60
NEURODEGENERATION	implicated_in	gene	0.60
ENDOSOMES	associated_with	gene	0.60
Neurodegeneration	regulates	disease	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

Related Research

Hypotheses and analyses mentioning SCA3 in their description or question text

No additional research found