FB2024_04 , released June 25, 2024
Gene: Hsap\ATXN3
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General Information
Symbol
Hsap\ATXN3
Species
H. sapiens
Name
ataxin 3
Annotation Symbol
Feature Type
FlyBase ID
FBgn0024961
Gene Model Status
Stock Availability
Gene Summary
Contribute a Gene Snapshot for this gene.
Also Known As

SCA3, MJD, ATXN3, MJDtr, spinocerebellar ataxia type 3

Key Links
Foreign Gene Data

Foreign sequence; species == Homo sapiens; gene == ATXN3; HGNC:7106.

Function

Information on product gene function for non-D. melanogaster species is no longer provided by FlyBase.

Up-to-date information on gene product function can be found by searching UniProtKB for proteins or RNAcentral for non-coding RNAs.

Summaries
Gene Model and Products
Number of Transcripts
0
Number of Unique Polypeptides
0
Protein Domains (via Pfam)
Isoform displayed:
Pfam protein domains
InterPro name
classification
start
end
Protein Domains (via SMART)
Isoform displayed:
SMART protein domains
InterPro name
classification
start
end
Structure
Experimentally Determined Structures
Crossreferences
Comments on Gene Model
Sequence Ontology: Class of Gene
Transcript Data
Annotated Transcripts
Additional Transcript Data and Comments
Reported size (kB)
Comments
External Data
Crossreferences
Polypeptide Data
Annotated Polypeptides
Polypeptides with Identical Sequences

 

Additional Polypeptide Data and Comments
Reported size (kDa)
Comments
External Data
Crossreferences
Linkouts
Sequences Consistent with the Gene Model
Nucleotide / Polypeptide Records
    Mapped Features

    Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Hsap\ATXN3 using the Feature Mapper tool.

    External Data
    Crossreferences
    Linkouts
    Expression Data
    Testis-specificity index

    The testis specificity index was calculated from modENCODE tissue expression data by Vedelek et al., 2018 to indicate the degree of testis enrichment compared to other tissues. Scores range from -2.52 (underrepresented) to 5.2 (very high testis bias).

    NA

    Transcript Expression
    Additional Descriptive Data
    Marker for
     
    Subcellular Localization
    CV Term
    Polypeptide Expression
    Additional Descriptive Data
    Marker for
     
    Subcellular Localization
    CV Term
    Evidence
    References
    Expression Deduced from Reporters
    High-Throughput Expression Data
    Associated Tools

    JBrowse - Visual display of RNA-Seq signals

    View Hsap\ATXN3 in JBrowse
    RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region
    Reference
    See Gelbart and Emmert, 2013 for analysis details and data files for all genes.
    Developmental Proteome: Life Cycle
    Developmental Proteome: Embryogenesis
    External Data and Images
    Alleles, Insertions, Transgenic Constructs, and Aberrations
    Classical and Insertion Alleles ( 0 )
    For All Classical and Insertion Alleles Show
     
    Other relevant insertions
    Transgenic Constructs ( 82 )
    For All Alleles Carried on Transgenic Constructs Show
    Transgenic constructs containing/affecting coding region of Hsap\ATXN3
    Transgenic constructs containing regulatory region of Hsap\ATXN3
    Aberrations (Deficiencies and Duplications) ( 0 )
    Inferred from experimentation ( 0 )
    Inferred from location ( 0 )
      Variants
      Variant Molecular Consequences
      Alleles Representing Disease-Implicated Variants
      Phenotypes
      For more details about a specific phenotype click on the relevant allele symbol.
      Lethality
      Allele
      Other Phenotypes
      Allele
      Phenotype manifest in
      Allele
      Orthologs
      Human Orthologs (via DIOPT v9.1)
      Species\Gene Symbol
      Score
      Best Score
      Best Reverse Score
      Alignment
      Complementation?
      Transgene?
      Homo sapiens (Human) (0)
      Model Organism Orthologs (via DIOPT v9.1)
      Species\Gene Symbol
      Score
      Best Score
      Best Reverse Score
      Alignment
      Complementation?
      Transgene?
      Drosophila melanogaster (Fruit fly) (1)
      2 of 14
      Yes
      No
      0  
      Other Organism Orthologs (via OrthoDB)
      Data provided directly from OrthoDB:Hsap\ATXN3. Refer to their site for version information.
      Human Disease Associations
      FlyBase Human Disease Model Reports
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 44 )
      Allele
      Disease
      Evidence
      References
      Potential Models Based on Orthology ( 0 )
      Human Ortholog
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 33 )
      Allele
      Disease
      Interaction
      References
      is ameliorated by Rac1UAS.cLa
      is exacerbated by Rac1V12.UAS
      is exacerbated by CG7130GD2776
      is exacerbated by Atg12JF02704
      is exacerbated by Atg7GD11671
      is exacerbated by Atg8aHMS01328
      is ameliorated by Ube4BJF02691
      is ameliorated by DnaJ-1UAS.cKa
      is ameliorated by effHM05268
      is ameliorated by parkHMS01651
      is exacerbated by sip3GD3145
      is exacerbated by STUB1HMS00986
      is ameliorated by embE2-1A
      is ameliorated by dbrEP9
      is ameliorated by dbrEP456
      is ameliorated by orb2B8-S
      is ameliorated by wechE546
      is ameliorated by Faf2E659
      is ameliorated by mrjE1050
      is exacerbated by Cdk5GD13840
      is ameliorated by embEY08770
      is exacerbated by embJF01311
      is ameliorated by cdmGS17666
      is NOT exacerbated by cdmJF01428
      is ameliorated by Prp19G3080
      is exacerbated by Prp19GD11681
      is ameliorated by CrebAUAS.cUa
      is ameliorated by Rac1UAS.cUa
      is ameliorated by CthUAS.cSb
      is exacerbated by Cul1GD9650
      is exacerbated by Cul1NIG.1877R
      is exacerbated by FipoQKK108266
      is ameliorated by Atx2HMS02726
      is exacerbated by MycJF01762
      is ameliorated by MycUAS.cZa
      is ameliorated by CalpAJF03391
      is ameliorated by CalpAKK104532
      is ameliorated by Kcmf1HMS00511
      is ameliorated by Rack1KK109073
      is ameliorated by Usp47UAS.cXa
      is ameliorated by poeHMS00739
      is ameliorated by rlUAS.Tag:FLAG
      is ameliorated by RelGD1199
      is ameliorated by caspUAS.Tag:V5
      is ameliorated by ftz-f1HMS00019
      is ameliorated by prosHMJ02107
      is ameliorated by tupHMC03317
      is ameliorated by CharonKK105778
      is ameliorated by DreddHMS00063
      is exacerbated by UckGD229
      is exacerbated by TbpsI10
      is exacerbated by TbpUAS.cHa
      is ameliorated by nejEP1410
      is exacerbated by Khc9
      is exacerbated by loqsf00791
      is ameliorated by mir-banB90.1
      is exacerbated by U2af50XR15
      is exacerbated by mblUAS.cLa
      is ameliorated by Rpn11DANC
      Disease Associations of Human Orthologs (via DIOPT v9.1 and OMIM)
      Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.
      Homo sapiens (Human)
      Gene name
      Score
      OMIM
      OMIM Phenotype
      DO term
      Complementation?
      Transgene?
      Functional Complementation Data
      Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.
      Interactions
      Summary of Physical Interactions
      esyN Network Diagram
      Show neighbor-neighbor interactions:
      Show/hide secondary interactors 
      (data from AllianceMine provided by esyN)
      Select Layout:
      Legend:
      Protein
      RNA
      Selected Interactor(s)
      Other Interaction Browsers

      Please see the Physical Interaction reports below for full details
      protein-protein
      Physical Interaction
      Assay
      References
      Summary of Genetic Interactions
      esyN Network Diagram
      Other Interaction Browsers
      Starting gene(s)
      Interaction type
      Interacting gene(s)
      Reference
      Starting gene(s)
      Interaction type
      Interacting gene(s)
      Reference
      External Data
      Linkouts
      DroID - A comprehensive database of gene and protein interactions.
      Pathways
      Signaling Pathways (FlyBase)
      Metabolic Pathways
      External Data
      Linkouts
      Genomic Location and Detailed Mapping Data
      Chromosome (arm)
      Recombination map
      Cytogenetic map
      Sequence location
      FlyBase Computed Cytological Location
      Cytogenetic map
      Evidence for location
      Experimentally Determined Cytological Location
      Cytogenetic map
      Notes
      References
      Experimentally Determined Recombination Data
      Location
      Left of (cM)
      Right of (cM)
      Notes
      Stocks and Reagents
      Stocks (13)
      Genomic Clones (0)
       
        cDNA Clones (0)
         

        Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see JBrowse for alignment of the cDNAs and ESTs to the gene model.

        cDNA clones, fully sequenced
        BDGP DGC clones
          Other clones
            Drosophila Genomics Resource Center cDNA clones

            For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

              cDNA Clones, End Sequenced (ESTs)
              BDGP DGC clones
                Other clones
                  RNAi and Array Information
                  Linkouts
                  Antibody Information
                  Laboratory Generated Antibodies
                   
                  Commercially Available Antibodies
                   
                  Cell Line Information
                  Publicly Available Cell Lines
                   
                    Other Stable Cell Lines
                     
                      Other Comments
                      Relationship to Other Genes
                      Source for database merge of
                      Additional comments
                      Nomenclature History
                      Source for database identify of
                      Nomenclature comments
                      Etymology
                      Synonyms and Secondary IDs (33)
                      Reported As
                      Symbol Synonym
                      Ataxin-3(SCA3)
                      Name Synonyms
                      Secondary FlyBase IDs
                        Datasets (0)
                        Study focus (0)
                        Experimental Role
                        Project
                        Project Type
                        Title
                        Study result (0)
                        Result
                        Result Type
                        Title
                        External Crossreferences and Linkouts ( 8 )
                        Sequence Crossreferences
                        NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
                        Linkouts
                        DroID - A comprehensive database of gene and protein interactions.
                        References (178)