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ATXN3 Gene

protein-coding   GIFtS: 67
GCID: GC14M092524

Ataxin 3

(Previous names: Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar...)
(Previous symbols: SCA3, MJD)
  See ATXN3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ataxin 31 2     JOS2
MJD1 2 3 5     Ataxin 3 Variant H2
SCA31 2 3 5     Ataxin 3 Variant M2
Machado-Joseph Disease (Spinocerebellar Ataxia 3, Olivopontocerebellar
Ataxia 3, Autosomal Dominant, Ataxin 3)1 2
     Ataxin 3 Variant Ref2
Spinocerebellar Ataxia Type 3 Protein2 3     ataxin-32
ATX32 3     josephin2
MJD12 3     Olivopontocerebellar Ataxia 32
Machado-Joseph Disease Protein 12 3     EC 3.4.19.123
AT32     EC 3.4.228

External Ids:    HGNC: 71061   Entrez Gene: 42872   Ensembl: ENSG000000664277   OMIM: 6070475   UniProtKB: P542523   
ORGUL members:         

Export aliases for ATXN3 gene to outside databases

Previous GC identifers: GC14M091599 GC14M072705


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATXN3 Gene:
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 13-36 to 68-79 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, Sep 2009)

GeneCards Summary for ATXN3 Gene:
ATXN3 (ataxin 3) is a protein-coding gene. Diseases associated with ATXN3 include machado-joseph disease type 2, and machado-joseph disease type 3. GO annotations related to this gene include ubiquitin thiolesterase activity and identical protein binding. An important paralog of this gene is ATXN3L.

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252
Function: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton
regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and
trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of
misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP,
and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain
extension. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated
STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone-binding
protein that regulates transcription

Gene Wiki entry for ATXN3 (Ataxin 3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATXN3 gene promoter:
         TBP   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATXN3 promoter sequence
   Search Chromatin IP Primers for ATXN3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATXN3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q21   Ensembl cytogenetic band:  14q32.12   HGNC cytogenetic band: 14q21

ATXN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN3 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M092524:  view genomic region     (about GC identifiers)

Start:
92,524,896 bp from pter      End:
92,572,965 bp from pter
Size:
48,070 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252 (See protein sequence)
Recommended Name: Ataxin-3  
Size: 364 amino acids; 41781 Da
Subunit: Interacts with STUB1/CHIP (when monoubiquitinated) (By similarity). Interacts with DNA repair proteins
RAD23A and RAD23B
5 PDB 3D structures from and Proteopedia for ATXN3:
1YZB (3D)        2AGA (3D)        2DOS (3D)        2JRI (3D)        2KLZ (3D)    
Secondary accessions: A7LFZ5 D6RDL9 E9PB63 O15284 O15285 O15286 Q8N189 Q96TC3 Q96TC4 Q9H3N0
Alternative splicing: 5 isoforms:  P54252-1   P54252-2   P54252-3   P54252-4   P54252-5   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for ATXN3: NX_P54252

Explore proteomics data for ATXN3 at MOPED

Post-translational modifications: 

  • Monoubiquitinated N-terminally by UBE2W, possibly leading to activate the deubiquitinating enzyme activity1
  • Ubiquitination2 at Lys117, Lys190, Lys200, Lys291
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATXN3 (P54252) (see all 8)
     IFHEKQEG  WFNLNSLL  GPELISDT  RPKLIGEE 


    See ATXN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (12 alternative transcripts): 
    NP_001121168.1  NP_001121169.2  NP_001158246.1  NP_001158248.1  NP_001158249.1  NP_001158250.1  NP_001158251.1  NP_001158252.1  
    NP_001158253.1  NP_001158254.1  NP_004984.2  NP_109376.1  

    ENSEMBL proteins: 
     ENSP00000376965   ENSP00000352324   ENSP00000425322   ENSP00000426697   ENSP00000339110  
     ENSP00000437157   ENSP00000451001   ENSP00000450642   ENSP00000451910   ENSP00000451385  
     ENSP00000451132   ENSP00000451769   ENSP00000451417   ENSP00000452139   ENSP00000452461  
     ENSP00000452532   ENSP00000451399   ENSP00000451996   ENSP00000450566   ENSP00000451733  
     ENSP00000451405   ENSP00000451771   ENSP00000451693   ENSP00000451103   ENSP00000450641  
     ENSP00000450492   ENSP00000452356   ENSP00000422073   ENSP00000435571   ENSP00000474067  
     ENSP00000445618   ENSP00000389376  

    ATXN3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ATXN3 (Ataxin-3, Ataxin UIM Domains)
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    OriGene Purified Protein for ATXN3
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ATXN3
    Cloud-Clone Corp. Proteins for ATXN3

     
    Search eBioscience for Proteins for ATXN3 

     
    antibodies-online proteins for ATXN3 (18 products) 

     
    antibodies-online peptides for ATXN3

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    EMD Millipore Mono- and Polyclonal Antibodies for the study of ATXN3
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    antibodies-online antibodies for ATXN3 (38 products) 

    ATXN3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ATXN3
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    antibodies-online kits for ATXN3 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ATXN: Ataxins

    2 InterPro protein domains:
     IPR006155 Josephin
     IPR003903 Ubiquitin-int_motif

    Graphical View of Domain Structure for InterPro Entry P54252

    ProtoNet protein and cluster: P54252

    2 Blocks protein domains:
    IPB003903 Ubiquitin interacting motif
    IPB006155 Josephin signature


    UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252
    Domain: The UIM domains bind ubiquitin and interact with various E3 ubiquitin-protein ligase, such as STUB1/CHIP.
    They are essential to limit the length of ubiquitin chains (By similarity)
    Similarity: Contains 1 Josephin domain
    Similarity: Contains 3 UIM (ubiquitin-interacting motif) repeats


    Find genes that share domains with ATXN3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATX3_HUMAN, P54252
    Function: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton
    regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and
    trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of
    misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP,
    and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain
    extension. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated
    STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone-binding
    protein that regulates transcription
    Catalytic activity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by
    the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal)

         Enzyme Numbers (IUBMB): EC 3.4.222 EC 3.4.19.121

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001012RNA polymerase II regulatory region DNA binding ----
    GO:0004221ubiquitin thiolesterase activity ISS--
    GO:0004843ubiquitin-specific protease activity ISS--
    GO:0005515protein binding IPI16525503
    GO:0008242omega peptidase activity IEA--
         
    Find genes that share ontologies with ATXN3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ATXN3:
     Increased homologous recombina 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Atxn3):
     behavior/neurological  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with ATXN3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Atxn3tm1Isch for ATXN3

       genOway: Develop your customized and physiologically relevant rodent model for ATXN3

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ATXN3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATXN3 (see all 80):
    hsa-miR-323-3p hsa-miR-520f hsa-miR-4272 hsa-miR-3653 hsa-miR-383 hsa-miR-489 hsa-miR-3613-3p hsa-miR-155*
    SwitchGear 3'UTR luciferase reporter plasmidATXN3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ATXN3
    Predesigned siRNA for gene silencing in human, mouse, rat ATXN3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 12): ATXN3 (NM_004993)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATXN3
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    Addgene plasmids for ATXN3 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATX3_HUMAN, P54252: Nucleus matrix. Note=Predominantly nuclear, but not exclusively, inner nuclear matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion2
    cytoskeleton1
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS9580663
    GO:0005737cytoplasm TAS9124802
    GO:0005759mitochondrial matrix ----
    GO:0016363nuclear matrix IEA--
    GO:0031966mitochondrial membrane ----

    Find genes that share ontologies with ATXN3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATXN3 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt CFTR0.59
    Regulation of degradation of deltaF508 CFTR in CF0.59
    2Proteolysis Putative ubiquitin pathway
    Proteolysis Putative ubiquitin pathway
    3Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum


    Find genes that share SuperPaths with ATXN3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ATXN3
        Akt Signaling
    Parkinson's Disease Pathway

    3 GeneGo (Thomson Reuters) Pathways for ATXN3
        Regulation of degradation of deltaF508 CFTR in CF
    Proteolysis Putative ubiquitin pathway
    Regulation of degradation of wt-CFTR


    1 Kegg Pathway  (Kegg details for ATXN3):
        Protein processing in endoplasmic reticulum

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATXN3: 
              Parkinson's Disease in human mouse rat
              DNA Repair in human mouse rat
              Unfolded Protein Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ATXN3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATXN3 (P542521, 2, 3 ENSP000003523244) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VCPP550721, 2, 3, ENSP000003517774EBI-946068,EBI-355164 MINT-2837662 MINT-2837891 MINT-2837871 MINT-2837641 MINT-2838376 MINT-2837835 MINT-7903973 MINT-2838443 MINT-7904025 MINT-2837781 MINT-2838413 MINT-50296 MINT-2837757 MINT-7904005 MINT-50299 I2D: score=11 STRING: ENSP00000351777
    ATXN3P542521, 2EBI-946046,EBI-946046 MINT-8294905 MINT-8294734 MINT-8294705 MINT-8294920
    UBQLN1Q9UMX02, 3, ENSP000003655764MINT-4300171 MINT-4300075 I2D: score=3 STRING: ENSP00000365576
    PSMD7P516652, 3, ENSP000002193134MINT-50298 MINT-50300 I2D: score=2 STRING: ENSP00000219313
    RAD23AP547252, 3, ENSP000003213654MINT-2862451 I2D: score=4 STRING: ENSP00000321365
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IMP--
    GO:0006289nucleotide-excision repair TAS10915768
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006515misfolded or incompletely synthesized protein catabolic process ISS--

    Find genes that share ontologies with ATXN3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATXN3 (ATX3)

    4 Novoseek inferred chemical compound relationships for ATXN3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 86.3 153 10556285 (6), 14659761 (5), 10993685 (3), 11561037 (3) (see all 77)
    polyacrylamide 21 2 10465503 (1), 20334689 (1)
    cysteine 16.8 9 16020535 (2), 10085113 (1), 14559776 (1), 17079677 (1) (see all 6)
    testosterone 0 2 9535906 (1), 11356158 (1)



    Find genes that share compounds with ATXN3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATXN3 gene (13 alternative transcripts): 
    NM_001127696.1  NM_001127697.2  NM_001164774.1  NM_001164776.1  NM_001164777.1  NM_001164778.1  NM_001164779.1  NM_001164780.1  
    NM_001164781.1  NM_001164782.1  NM_004993.5  NM_030660.4  NM_001024631.1  

    Unigene Cluster for ATXN3:

    Ataxin 3
    Hs.532632  [show with all ESTs]
    Unigene Representative Sequence: NR_028457
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 47):
    ENST00000526245 ENST00000393287 ENST00000359366 ENST00000502250 ENST00000503767
    ENST00000340660 ENST00000532032(uc021rzp.1 uc021rzo.1) ENST00000555381
    ENST00000557311 ENST00000555816 ENST00000554592 ENST00000556315 ENST00000556898
    ENST00000554672 ENST00000557030 ENST00000556644 ENST00000553488(uc021rzs.1 uc021rzw.1)
    ENST00000554040
    miRNA
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    hsa-miR-323-3p hsa-miR-520f hsa-miR-4272 hsa-miR-3653 hsa-miR-383 hsa-miR-489 hsa-miR-3613-3p hsa-miR-155*
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      QuantiFast Probe-based Assays in human, mouse, rat ATXN3

    Additional mRNA sequence: 

    AB050194.1 AB209309.1 AK021920.1 AK225884.1 AK307720.1 AK314919.1 BC033711.1 BC095402.1 
    GQ176433.1 GQ176434.1 GQ176435.1 GQ176436.1 GQ176437.1 GQ176438.1 GQ176439.1 GQ176440.1 
    GQ176441.1 GQ176442.1 GQ176443.1 GQ176444.1 GQ176445.1 GQ176446.1 GQ176447.1 GQ176448.1 
    GQ176449.1 GQ176450.1 GQ176451.1 GQ176452.1 GQ176453.1 GQ176454.1 GQ176455.1 GQ176456.1 
    GQ176457.1 GQ176458.1 GQ176459.1 GQ176460.1 GQ176461.1 GQ176462.1 GQ176463.1 GQ176464.1 
    GQ176465.1 GQ176466.1 GQ176467.1 GQ176468.1 GQ176469.1 GQ176470.1 GQ176471.1 GQ176472.1 
    GQ176473.1 GQ176474.1 GQ176475.1 GQ176476.1 GQ176477.1 GQ176478.1 GQ176479.1 GQ176480.1 
    GQ176481.1 GQ176482.1 GQ176483.1 GQ176484.1 GQ176485.1 GQ176486.1 GQ176487.1 GQ176488.1 
    GQ176489.1 GQ176490.1 GQ176491.1 GQ176492.1 GQ176493.1 GQ176494.1 GQ176495.1 GQ176496.1 
    GQ176497.1 GQ176498.1 GQ176499.1 GQ176500.1 GQ176501.1 GQ176502.1 GQ176503.1 GQ176504.1 
    GQ176505.1 GQ176506.1 GQ176507.1 GQ176508.1 GQ176509.1 GQ176510.1 GQ176511.1 GQ176512.1 
    GQ176513.1 GQ176514.1 GQ176515.1 GQ176516.1 GQ176517.1 GQ176518.1 GQ176519.1 GQ176520.1 
    GQ176521.1 GQ176522.1 GQ176523.1 GQ176524.1 GQ176525.1 GQ176526.1 GQ176527.1 GQ176528.1 
    GQ176529.1 GQ176530.1 GQ176531.1 GQ176532.1 GQ176533.1 GQ176534.1 GQ176535.1 GQ176536.1 
    GQ176537.1 GQ176538.1 GQ176539.1 GQ176540.1 GQ176541.1 GQ176542.1 GQ176543.1 GQ176544.1 
    GQ176545.1 GQ176546.1 GQ176547.1 GQ176548.1 GQ176549.1 GQ176550.1 GQ176551.1 GQ176552.1 
    GQ176553.1 GQ176554.1 GQ176555.1 GQ176556.1 GQ176557.1 GQ176558.1 GQ176559.1 GQ176560.1 
    GQ176561.1 GQ176562.1 GQ176563.1 GQ176564.1 GQ176565.1 GQ176566.1 GQ176567.1 GQ176568.1 
    GQ176569.1 GQ176570.1 GQ176571.1 GQ176572.1 GQ176573.1 GQ176574.1 GQ176575.1 GQ176576.1 
    GQ176577.1 GQ176578.1 GQ176579.1 GQ176580.1 GQ176581.1 GQ176582.1 GQ176583.1 GQ176584.1 
    GQ176585.1 GQ176586.1 GQ176587.1 GQ176588.1 GQ176589.1 GQ176590.1 GQ176591.1 GQ176592.1 
    GQ176593.1 GQ176594.1 GQ176595.1 GQ176596.1 GQ176597.1 GQ176598.1 GQ176599.1 GQ176600.1 
    GQ176601.1 GQ176602.1 GQ176603.1 GQ176604.1 GQ176605.1 GQ176606.1 GQ176607.1 GQ176608.1 
    GQ176609.1 GQ176610.1 GQ176611.1 GQ176612.1 GQ176613.1 GQ176614.1 GQ176615.1 GQ176616.1 
    GQ176617.1 GQ176618.1 GQ176619.1 GQ176620.1 GQ176621.1 GQ176622.1 GQ176623.1 GQ176624.1 
    GQ176625.1 GQ176626.1 GQ176627.1 GQ176628.1 GQ176629.1 GQ176630.1 GQ176631.1 GQ176632.1 
    GQ176633.1 GQ176634.1 GQ176635.1 GQ176636.1 GQ176637.1 GQ176638.1 GQ176639.1 GQ176640.1 
    GQ176641.1 GQ176642.1 GQ176643.1 GQ176644.1 GQ176645.1 GQ176646.1 GQ176647.1 GQ176648.1 
    GQ176649.1 GQ176650.1 GQ176651.1 GQ176652.1 GQ176653.1 GQ176654.1 GQ176655.1 GQ176656.1 
    GQ176657.1 GQ176658.1 GQ176659.1 GQ176660.1 GQ176661.1 GQ176662.1 GQ176663.1 GQ176664.1 
    GQ176665.1 GQ176666.1 GQ176667.1 GQ176668.1 GQ176669.1 GQ176670.1 GQ176671.1 GQ176672.1 
    GQ176673.1 GQ176674.1 GQ176675.1 GQ176676.1 GQ176677.1 GQ176678.1 GQ176679.1 GQ176680.1 
    GQ176681.1 GQ176682.1 GQ176683.1 GQ176684.1 GQ176685.1 GQ176686.1 GQ176687.1 GQ176688.1 
    GQ176689.1 GQ176690.1 GQ176691.1 GQ176692.1 GQ176693.1 GQ176694.1 GQ176695.1 GQ176696.1 
    GQ176697.1 GQ176698.1 GQ176699.1 GQ176700.1 GQ176701.1 GQ176702.1 GQ176703.1 GQ176704.1 
    GQ176705.1 GQ176706.1 GQ176707.1 GQ176708.1 GQ176709.1 GQ176710.1 GQ176711.1 GQ176712.1 
    GQ176713.1 GQ176714.1 GQ176715.1 GQ176716.1 GQ176717.1 GQ176718.1 GQ176719.1 GQ176720.1 
    GQ176721.1 GQ176722.1 GQ176723.1 GQ176724.1 GQ176725.1 GQ176726.1 GQ176727.1 GQ176728.1 
    GQ176729.1 GQ176730.1 GQ176731.1 GQ176732.1 GQ176733.1 GQ176734.1 GQ176735.1 GQ176736.1 
    GQ176737.1 GQ176738.1 GQ176739.1 GQ176740.1 GQ176741.1 GQ176742.1 GQ176743.1 GQ176744.1 
    GQ176745.1 GQ176746.1 GQ176747.1 GQ176748.1 GQ176749.1 GQ176750.1 GQ176751.1 GQ176752.1 
    GQ176753.1 GQ176754.1 GQ176755.1 GQ176756.1 GQ176757.1 GQ176758.1 GQ176759.1 GQ176760.1 
    GQ176761.1 GQ176762.1 GQ176763.1 GQ176764.1 GQ176765.1 GQ176766.1 GQ176767.1 GQ176768.1 
    GQ176769.1 GQ176770.1 GQ176771.1 GQ176772.1 GQ176773.1 GQ176774.1 GQ176775.1 GQ176776.1 
    GQ176777.1 GQ176778.1 GQ176779.1 GQ176780.1 GQ176781.1 GQ176782.1 GQ176783.1 GQ176784.1 
    GQ176785.1 GQ176786.1 GQ176787.1 GQ176788.1 GQ176789.1 GQ176790.1 GQ176791.1 GQ176792.1 
    GQ176793.1 GQ176794.1 GQ176795.1 GQ176796.1 GQ176797.1 GQ176798.1 GQ176799.1 GQ176800.1 
    GQ176801.1 GQ176802.1 GQ176803.1 GQ176804.1 GQ176805.1 GQ176806.1 GQ176807.1 GQ176808.1 
    GQ176809.1 GQ176810.1 GQ176811.1 GQ176812.1 GQ176813.1 GQ176814.1 GQ176815.1 GQ176816.1 
    GQ176817.1 GQ176818.1 GQ176819.1 GQ176820.1 GQ176821.1 GQ176822.1 GQ176823.1 GQ176824.1 
    GQ176825.1 GQ176826.1 GQ176827.1 GQ176828.1 GQ176829.1 GQ176830.1 GQ176831.1 GQ176832.1 
    GQ176833.1 GQ176834.1 GQ176835.1 GQ176836.1 GQ176837.1 GQ176838.1 GQ176839.1 GQ176840.1 
    GQ176841.1 GQ176842.1 GQ176843.1 GQ176844.1 GQ176845.1 GQ176846.1 GQ176847.1 NR_028453.1 
    NR_028454.1 NR_028455.1 NR_028456.1 NR_028457.1 NR_028458.1 NR_028459.1 NR_028460.1 NR_028461.1 
    NR_028462.1 NR_028463.1 NR_028464.1 NR_028465.1 NR_028466.1 NR_028467.1 NR_028468.1 NR_028469.1 
    NR_028470.1 NR_031765.1 S75313.1 U63332.1 U64820.1 U64822.1 

    18 DOTS entries:

    DT.425017  DT.443649  DT.87015142  DT.100891031  DT.456211  DT.92425329  DT.92425333  DT.100726270 
    DT.204093  DT.95161774  DT.95258069  DT.95261469  DT.100009304  DT.100041932  DT.100009305  DT.92425330 
    DT.100671959  DT.75139018 

    Selected AceView cDNA sequences (see all 117):

    AI292001 AA677999 BU663113 NM_004993 AB050194 BU684328 AA737644 BQ775895 
    NM_030660 CD367728 AA961624 AK021920 AA905251 AA768286 AA352543 BC022245 
    AA642481 BX439196 AA907480 CA425099 AL709144 CA309171 CR602562 BE018570 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATXN3 (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b
    SP1:                          -           -           -     -                                                   
    SP2:                          -     -     -           -     -                                                   
    SP3:        -     -           -           -           -     -                                                   
    SP4:                    -     -           -           -     -                                                   
    SP5:                    -     -     -     -     -     -     -                                                   


    ECgene alternative splicing isoforms for ATXN3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ATXN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATACAAGTGC
    ATXN3 Expression
    About this image

    ATXN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATXN3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532632

    UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATXN3: 
              Parkinson's Disease in human mouse rat
              DNA Repair in human mouse rat
              Unfolded Protein Response in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ATXN3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATXN3
    QuantiTect SYBR Green Assays in human, mouse, rat ATXN3
    QuantiFast Probe-based Assays in human, mouse, rat ATXN3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for ATXN3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atxn31 , 5 ataxin 31, 5 87.61(n)1
    86.43(a)1
      12 (51.32 cM)5
    1106161  NM_029705.31  NP_083981.21 
     1019189015 
    chicken
    (Gallus gallus)
    Aves ATXN31 ataxin 3 78.77(n)
    79.46(a)
      378424  NM_204357.1  NP_989688.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    74(a)
    1 → many
    1(11651929-11674005)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.30692 Xenopus laevis transcribed sequence with moderate similarity more 80.34(n)    BX846134.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563232 similar to Machado-Joseph disease (spinocerebellar more 73.75(n)   394079  BC050519.1 
    worm
    (Caenorhabditis elegans)
    Secernentea atx-31 atx-3 51.07(n)
    40.34(a)
      180049  NM_074472.7  NP_506873.1 


    ENSEMBL Gene Tree for ATXN3 (if available)
    TreeFam Gene Tree for ATXN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATXN3 gene
    ATXN3L2  
    1 SIMAP similar gene for ATXN3 using alignment to 201 protein entries:     ATX3_HUMAN (see all proteins):
    ATXN3L

    Find genes that share paralogs with ATXN3           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ATXN3
    PGOHUM00000248156 PGOHUM00000249779


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ATX3_HUMAN, P54252: The poly-Gln region of ATXN3 is highly polymorphic (14 to 41 repeats) in the normal population and
    is expanded to about 55-82 repeats in spinocerebellar ataxia 3 (SCA3) patients
    ATX3_HUMAN, P54252: The MJD1a allele carries a single nucleotide substitution in codon 349 generating a stop codon
    instead of a Tyr. In the Japanese population, the MJD1a allele seems to be significantly associated with Gln
    expansion


    Selected SNPs for ATXN3 (see all 1223)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs347557301,2
    C--72716660(+) AGCCC-/TTTTTT 31 -- int10--------
    rs1832150551,2
    --72725688(+) ATTTAC/TTTATT 31 -- int10--------
    rs343380981,2
    C--72738270(+) TGCCT-/T/TT  
            
    TTTTT
    31 -- int10--------
    rs113673161,2
    C,F--72742822(+) GGCCTC/-CCCAA 31 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs350799621,2
    C--72744212(+) TTTTTT/-GAGAC 31 -- int12Minor allele frequency- -:0.25NA 4
    rs106034601,2
    C--72752502(+) aaaaa-/A/AA  
            
    GTACG
    31 -- int11NA 2
    rs38148341,2
    C--72754145(-) TTCGGC/TGTGGG 31 -- nc-transcript-variantut519Minor allele frequency- T:0.29NS WA CSA EA 430
    rs1860885091,2
    --73513963(+) TGGAAC/TAGAAT 31 -- ds50010--------
    rs567288211,2
    C,F--73513967(+) ATAGAG/ATATCA 31 -- ds50012Minor allele frequency- A:0.50WA CSA 4
    rs1462836741,2
    --73513978(+) ATGGAC/TTGTGC 31 -- ds50010--------

    HapMap Linkage Disequilibrium report for ATXN3 (92524896 - 92572965 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ATXN3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv85878CNV Insertion16902084
    dgv1975n71CNV Loss21882294
    nsv902190CNV Loss21882294
    nsv527458CNV Loss19592680
    nsv456395CNV Loss19166990

    Human Gene Mutation Database (HGMD): ATXN3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATXN3
    DNA2.0 Custom Variant and Variant Library Synthesis for ATXN3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 607047   
    OMIM disorders: 109150  
    UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252
  • Spinocerebellar ataxia 3 (SCA3) [MIM:109150]: Spinocerebellar ataxia is a clinically and genetically
    heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor
    coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the
    brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are
    characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy,
    ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in
    SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more
    severe clinical manifestations of the disease. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 14 diseases for ATXN3:    
    About MalaCards
    machado-joseph disease type 2    machado-joseph disease type 3    spinocerebellar ataxia type 3    machado-joseph disease
    machado-joseph disease type 1    dysphagia    spinocerebellar degeneration    spinocerebellar ataxia
    myokymia    hereditary ataxia    neuronal intranuclear inclusion disease    spinocerebellar ataxia type 7
    ataxia    narcolepsy

    5 diseases from the University of Copenhagen DISEASES database for ATXN3:
    Spinocerebellar ataxia     dentatorubral-pallidoluysian atrophy     Cerebellar ataxia     Huntington's disease
    Multiple system atrophy

    Find genes that share disorders with ATXN3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ATXN3 gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    machado-joseph disease 98.7 137 10465503 (2), 11446399 (2), 8528200 (2), 8800925 (1) (see all 84)
    spinocerebellar ataxias 90.7 20 15140190 (2), 7655453 (1), 15316156 (1), 16791428 (1) (see all 14)
    drpla 84.5 18 17650485 (2), 19235102 (2), 10453742 (2), 9613852 (2) (see all 12)
    spinocerebellar degenerations 83.7 7 17696782 (1), 17983597 (1), 12857950 (1), 12938149 (1) (see all 5)
    neurodegenerative diseases 81.9 46 14659761 (2), 12857950 (2), 8800925 (1), 8659514 (1) (see all 33)
    sca12 76 5 19235102 (2), 11914409 (1), 17420317 (1)
    sca17 76 5 17650485 (2), 19235102 (1), 17420317 (1)
    spinocerebellar ataxia type 2 75.1 4 19672991 (1), 15265035 (1), 17440947 (1)
    facial myokymia 69.4 1 9562258 (1)
    ataxias hereditary 66.5 2 18042234 (1), 17420317 (1)

    GeneTests: ATXN3
    GeneReviews: ATXN3
    Genetic Association Database (GAD): ATXN3
    Human Genome Epidemiology (HuGE) Navigator: ATXN3 (20 documents)

    Export disorders for ATXN3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATXN3 gene, integrated from 10 sources (see all 327):
    (articles sorted by number of sources associating them with ATXN3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural modeling of ataxin-3 reveals distant homology to adaptins. (PubMed id 12486728)1, 2, 9 Albrecht M....Lengauer T. (Proteins 2003)
    2. Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early-onset parkinsonism. (PubMed id 17440947)1, 4, 9 Lin C.H....Wu R.M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    3. Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes. (PubMed id 17696782)1, 2, 9 Tzvetkov N. and Breuer P. (Biol. Chem. 2007)
    4. Deubiquitinating function of ataxin-3: insights from the solution structure of the Josephin domain. (PubMed id 16118278)1, 2, 9 Mao Y....De Camilli P. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    5. Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities. (PubMed id 12297501)1, 2, 9 Li F.... Chakravarti D. (J. Biol. Chem. 2002)
    6. Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population. (PubMed id 12166658)1, 4, 9 Costa M.C....Maciel P. (J. Hum. Genet. 2002)
    7. [Detection of the CAG trinucleotide repeats of MJD1 gene by recombinant DNA technology]. (PubMed id 20017304)1, 4, 9 Zhang S....Tang B.S. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009)
    8. Ataxin-3 is transported into the nucleus and associates with the nuclear matrix. (PubMed id 9580663)1, 2, 9 Tait D.... Wanker E.E. (Hum. Mol. Genet. 1998)
    9. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PubMed id 19235102)1, 4, 9 Rajkiewicz M....Zaremba J. (Neurol. Neurochir. Pol. 2008)
    10. Machado-Joseph disease gene products carrying different carboxyl termini. (PubMed id 9274833)1, 2, 9 Goto J.... Kanazawa I. (Neurosci. Res. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 4287 HGNC: 7106 AceView: ATXN3 Ensembl:ENSG00000066427 euGenes: HUgn4287
    ECgene: ATXN3 Kegg: 4287 H-InvDB: ATXN3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATXN3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATXN3 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/atxn3/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATXN3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATXN3 gene:
    Search GeneIP for patents involving ATXN3

    GeneCards and IP:
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