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ATXN3 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:AT3, ATX3, ATXN3, ENTREZ:4287, HGNC:7106, JOS, MIM:607047, MJD, MJD1, NM_001024631, NM_001127696, NM_001127697, NM_001164774, NM_001164776, NM_001164777, NM_001164778, NM_001164779, NM_001164780, NM_001164781, NM_001164782, NM_004993, NM_030660, NP_001121168, NP_001121169, NP_001158246, NP_001158248, NP_001158249, NP_001158250, NP_001158251, NP_001158252, NP_001158253, NP_001158254, NP_004984, NP_109376, NR_028453, NR_028454, NR_028455, NR_028456, NR_028457, NR_028458, NR_028459, NR_028460, NR_028461, NR_028462, NR_028463, NR_028464, NR_028465, NR_028466, NR_028467, NR_028468, NR_028469, NR_028470, NR_031765, SCA3, ataxin 3
Omim:OMIM:607047
Id:ENSG00000066427
Hgnc:HGNC:7106
Entrez:4287
Ensembl:ENSG00000066427
Description:ataxin 3
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View ATXN3's neighborhood in the knowledge graph.

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Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with ATXN3.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using ATXN3.

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Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for ATXN3.

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Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with ATXN3.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE239844 crizotinib 6 v 9 human up

Gene Set (Entity type)

A Gene Set from LINCS

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GSE195559 NOTCH1 knockout endothelial cell cardiac muscle cell stem cell 2 v 7 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE146358 dopamine 3 v 7 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE139987 1 V 2 ROSIGLITAZONE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE119978 GSE180930 cisplatin 3 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE230634 PARP inhibition 0 v 4 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE81796 0 V 2 ENZALUTAMIDE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE230329 0 V 3 DEXTRAN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE252944 AKT inhibition 10 v 15 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE172219 adenosine 2 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE239844 crizotinib 6 v 9 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE195559 NOTCH1 knockout endothelial cell cardiac muscle cell stem cell 2 v 7 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE146358 dopamine 3 v 7 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE139987 1 V 2 ROSIGLITAZONE MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE119978 GSE180930 cisplatin 3 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE230634 PARP inhibition 0 v 4 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE81796 0 V 2 ENZALUTAMIDE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE230329 0 V 3 DEXTRAN MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE252944 AKT inhibition 10 v 15 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE172219 adenosine 2 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

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    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    CFDE Workbench
    Report a bug
    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    @CFDE Workbench 2026
    This repository is under review for potential modification in compliance with Administration directives.