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ATXN7 Gene

protein-coding   GIFtS: 62
GCID: GC03P063825

Ataxin 7

(Previous name: spinocerebellar ataxia 7 (olivopontocerebellar atrophy with...)
(Previous symbol: SCA7)
  See 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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Aliases
Ataxin 71 2     Spinocerebellar Ataxia 7 (Olivopontocerebellar Atrophy With Retinal
Degeneration)1
SCA71 2 3 5     ADCAII2
Spinocerebellar Ataxia Type 7 Protein2 3     ataxin-72
OPCA32 5     

External Ids:    HGNC: 105601   Entrez Gene: 63142   Ensembl: ENSG000001636357   OMIM: 6076405   UniProtKB: O152653   

Export aliases for ATXN7 gene to outside databases


(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 ATXN7 Gene:
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders
characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has
been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci,
designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII,
which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar
syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain
CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated
polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually
increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it
has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats
(near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the
SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and
it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Apr 2010)

GeneCards Summary for ATXN7 Gene:
ATXN7 (ataxin 7) is a protein-coding gene. Diseases associated with ATXN7 include spinocerebellar ataxia type 7, and cerebellar disease. GO annotations related to this gene include chromatin binding. An important paralog of this gene is ATXN7L2.

UniProtKB/Swiss-Prot: ATX7_HUMAN, O15265
Function: Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA
complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton
stabilization




(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:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATXN7 gene promoter:
         TBP   TFIID   PPAR-gamma2   FOXL1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATXN7 promoter sequence
   Search Chromatin IP Primers for ATXN7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATXN7


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

Entrez Gene cytogenetic band: 3p21.1-p12   Ensembl cytogenetic band:  3p14.1   HGNC cytogenetic band: 3p21.1-p12

ATXN7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN7 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P063825:  view genomic region     (about GC identifiers)

Start:
63,850,233 bp from pter      End:
63,989,138 bp from pter
Size:
138,906 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ATX7_HUMAN, O15265 (See protein sequence)
Recommended Name: Ataxin-7  
Size: 892 amino acids; 95451 Da
Subunit: Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L,
TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP, TAF9 and ATXN7. The STAGA core complex is associated with a
subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22. Interacts with SORBS1,
PSMC1 and CRX. Interacts with TRRAP, GCN5L2 and TAF10. Interacts with alpha tubulin
1 PDB 3D structure from and Proteopedia for ATXN7:
2KKR (3D)    
Secondary accessions: B4E207 E9PHP9 O75328 O75329 Q9Y6P8
Alternative splicing: 3 isoforms:  O15265-1   O15265-2   O15265-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATXN7: NX_O15265

Explore proteomics data for ATXN7 at MOPED

Post-translational modifications: 

  • Proteolytically cleaved. The cleavage may be involved in SCA7 degeneration: the isoform fragments may exert
    distinct toxic influences that could contribute to selective neurodegeneration1
  • Sumoylation decreases the aggregation propensity and cellular toxicity of forms with an expanded poly-Gln region
    but has no effect on subcellular location or interaction with components of the STAGA complex1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATXN7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000324.1  NP_001121621.2  NP_001170858.1  

    ENSEMBL proteins: 
     ENSP00000418203   ENSP00000295900   ENSP00000420234   ENSP00000428277   ENSP00000428067  
     ENSP00000381590   ENSP00000439585  
    Reactome Protein details: O15265

    ATXN7 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ATXN7

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    EMD Millipore Mono- and Polyclonal Antibodies for the study of ATXN7
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    Cloud-Clone Corp. ELISAs for ATXN7
    Cloud-Clone Corp. CLIAs for ATXN7


    (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:
     IPR013243 SCA7_dom
     IPR015880 Znf_C2H2-like

    Graphical View of Domain Structure for InterPro Entry O15265

    ProtoNet protein and cluster: O15265

    UniProtKB/Swiss-Prot: ATX7_HUMAN, O15265
    Similarity: Belongs to the ataxin-7 family
    Similarity: Contains 1 SCA7 domain


    ATXN7 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATX7_HUMAN, O15265
    Function: Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA
    complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton
    stabilization

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding IPI11371513
         
    ATXN7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATXN7:
     Increased HPV18 LCR reporter a 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atxn7):
     behavior/neurological  growth/size/body  mortality/aging  muscle  nervous system 
     reproductive system  skeleton  vision/eye 

    ATXN7 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATXN7
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATXN7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATXN7

    miRNA
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    miRTarBase miRNAs that target ATXN7:
    hsa-mir-92a-3p (MIRT049634), hsa-mir-342-3p (MIRT043675), hsa-mir-423-3p (MIRT016681), hsa-mir-192-5p (MIRT004157), hsa-mir-17-5p (MIRT050978)

    Block miRNA regulation of human, mouse, rat ATXN7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATXN7 (see all 104):
    hsa-miR-548j hsa-miR-520f hsa-miR-607 hsa-miR-361-5p hsa-miR-640 hsa-miR-188-5p hsa-miR-200a hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidATXN7 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATXN7

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    Clone
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    OriGene clones in human, mouse for ATXN7 (see all 15)
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    GenScript: all cDNA clones in your preferred vector (see all 3): ATXN7 (NM_000333)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATXN7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN7

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ATXN7 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7


    (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
    ATX7_HUMAN, O15265: Isoform a: Nucleus. Nucleus, nucleolus. Nucleus matrix. Cytoplasm, cytoskeleton. Note=In
    addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the
    nucleolus. It is able to shuttle between the nucleus and cytoplasm
    ATX7_HUMAN, O15265: Isoform b: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol3
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0015630microtubule cytoskeleton IDA--
    GO:0016363nuclear matrix IEA--

    ATXN7 for ontologies           About GeneDecksing


    (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 ATXN7 About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34
    2Packaging Of Telomere Ends
    Histone modification0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ATXN7
        Akt Signaling
    Parkinson's Disease Pathway

    1 Reactome Pathway for ATXN7
        HATs acetylate histones



    ATXN7 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATXN7
    Interactions:

        Search GeneGlobe Interaction Network for ATXN7

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

    Selected Interacting proteins for ATXN7 (O152651, 2, 3 ENSP000003815904) via UniProtKB, MINT, STRING, and/or I2D (see all 150)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SORBS1Q9BX661, 2EBI-708350,EBI-433642 MINT-8434461 MINT-8434443 MINT-8434517 MINT-8434259 MINT-8434409 MINT-8434496 MINT-8434424 MINT-8434535 MINT-8434572 MINT-8434379 MINT-8434554 MINT-8434711 MINT-8434598 MINT-8434479 MINT-8434351
    HIST1H3HP684313, ENSP000003581604I2D: score=1 STRING: ENSP00000358160
    HIST1H3AP684313I2D: score=1 
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IMP--
    GO:0006325chromatin organization TAS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006997nucleus organization TAS10441328
    GO:0007601visual perception TAS9288099

    ATXN7 for ontologies           About GeneDecksing



    (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 ATXN7 (ATX7)

    2 Novoseek inferred chemical compound relationships for ATXN7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 78.1 43 14571264 (3), 16626296 (3), 19843541 (3), 9536097 (3) (see all 16)
    polyacrylamide 28.9 1 11030806 (1)



    ATXN7 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATXN7 gene (3 alternative transcripts): 
    NM_000333.3  NM_001128149.2  NM_001177387.1  

    Unigene Cluster for ATXN7:

    Ataxin 7
    Hs.476595  [show with all ESTs]
    Unigene Representative Sequence: NM_000333
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000474513 ENST00000474112(uc010hnu.1 uc003dlv.3) ENST00000295900(uc003dlw.4 uc011bfn.2)
    ENST00000487717 ENST00000484332 ENST00000475897(uc010hnw.3) ENST00000488239
    ENST00000466529 ENST00000472569 ENST00000484668 ENST00000477516 ENST00000522345
    ENST00000398590(uc021wzy.1) ENST00000538065
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATXN7 (see all 104):
    hsa-miR-548j hsa-miR-520f hsa-miR-607 hsa-miR-361-5p hsa-miR-640 hsa-miR-188-5p hsa-miR-200a hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidATXN7 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): ATXN7 (NM_000333)
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      QuantiTect SYBR Green Assays in human, mouse, rat ATXN7
      QuantiFast Probe-based Assays in human, mouse, rat ATXN7

    Additional mRNA sequence: 

    AF032104.1 AJ000517.1 AK125125.1 AK304062.1 AK310745.1 

    14 DOTS entries:

    DT.453149  DT.452437  DT.75174471  DT.120916135  DT.92422885  DT.100746852  DT.92422886  DT.112612 
    DT.120916097  DT.95124250  DT.97800834  DT.91805687  DT.91922826  DT.92007727 

    Selected AceView cDNA sequences (see all 145):

    AI337452 AA410749 AA019806 AI338215 F11976 AA865939 CB161882 BG568889 
    AL043992 AI436357 AA469964 BQ421037 NM_000333 BF510366 CA440076 BX099664 
    BQ086167 AA019679 CK822890 BX505228 CB217122 F11650 AA904018 AK125125 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATXN7 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b
    SP1:                                            -     -                 -                             -                                                   
    SP2:                                                                                                                                                      
    SP3:                                            -     -                                                                                                   
    SP4:                                                                    -                                                                                 
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for ATXN7

    (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)
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    ATXN7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACAAATGTC
    ATXN7 Expression
    About this image


    ATXN7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Metencephalon
     
     Brain (Nervous System)
             Medulla Oblongata
     
     Colon (Gastrointestinal Tract)
    ATXN7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATXN7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.476595

    UniProtKB/Swiss-Prot: ATX7_HUMAN, O15265
    Tissue specificity: Isoform a and isoform b are expressed in CNS, but isoform a is expressed predominantly in the
    peripherical tissues. Isoform b is also highly expressed in the frontal lobe, skeletal muscle and spinal cord and
    is expressed at a lower level in the lung, lymphoblast and intestine

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ATXN7 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atxn71 , 5 ataxin 71, 5 86.18(n)1
    85.22(a)1
      14 (7.08 cM)5
    2461031  NM_139227.41  NP_631973.31 
     140124915 
    chicken
    (Gallus gallus)
    Aves ATXN71 ataxin 7 78.02(n)
    75.28(a)
      416078  XM_004944658.1  XP_004944715.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATXN76
    ataxin 7
    73(a)
    1 ↔ 1
    GL343210.1(1882830-1982501)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.211922 Xenopus laevis transcribed sequence with weak similarity more 78.22(n)    BX849063.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000014901 ataxin-7-like 58.95(n)
    55.02(a)
      100001490  XM_001341439.5  XP_001341475.5 


    ENSEMBL Gene Tree for ATXN7 (if available)
    TreeFam Gene Tree for ATXN7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATXN7 gene
    ATXN7L22  ATXN7L12  
    2 SIMAP similar genes for ATXN7 using alignment to 2 protein entries:     ATX7_HUMAN (see all proteins):
    SCA7    ATXN7L1

    ATXN7 for paralogs           About GeneDecksing



    (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)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ATX7_HUMAN, O15265: The poly-Gln region of ATXN7 is highly polymorphic (4 to 18 repeats) in the normal population and is
    expanded to about 38-130 repeats in SCA7 patients. Intermediate alleles with 28 to 35 repeats are prone to
    further expansion


    Selected SNPs for ATXN7 (see all 2651)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1910295911,2
    --63801464(+) AAGTTC/TCTGGG 1 -- us2k10--------
    rs8321911,2
    C,H--63801551(+) GGCCCT/CTTAAT 1 -- us2k16Minor allele frequency- C:0.00NS EA NA 422
    rs763223081,2
    C,F--63801798(+) TTAGAC/TTGTCC 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs1832963371,2
    --63801864(+) ACACAC/TACACA 1 -- us2k10--------
    rs1874301641,2
    --63801881(+) TTTTAC/TCGTCC 1 -- us2k10--------
    rs1906895601,2
    --63801929(+) CTCCTC/TACCCC 1 -- us2k10--------
    rs1833096021,2
    --63801960(+) TTCCTA/GATCAC 1 -- us2k10--------
    rs1495626531,2
    C--63802022(+) CTCCTC/TCTCAC 1 -- us2k10--------
    rs1442311431,2
    --63802056(+) GCCTCA/GTTGCC 1 -- us2k10--------
    rs738319981,2
    C,F--63802057(+) CCTCAT/CTGCCA 1 -- us2k12Minor allele frequency- C:0.10WA 120

    HapMap Linkage Disequilibrium report for ATXN7 (63850233 - 63989138 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ATXN7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725348CNV Deletion23290073
    esv32871CNV Loss17666407
    nsv509828CNV Loss20534489
    nsv3850CNV Loss18451855
    nsv876886CNV Gain21882294

    Human Gene Mutation Database (HGMD): ATXN7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATXN7
    DNA2.0 Custom Variant and Variant Library Synthesis for ATXN7

    (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.)
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    OMIM gene information: 607640   
    OMIM disorders: 164500  
    UniProtKB/Swiss-Prot: ATX7_HUMAN, O15265
  • Spinocerebellar ataxia 7 (SCA7) [MIM:164500]: 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 degeneration of the cerebellum with variable involvement
    of the brainstem and spinal cord. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II)
    which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ATXN7 (see all 27):    
    About MalaCards
    spinocerebellar ataxia type 7    cerebellar disease    spinocerebellar ataxia    olivopontocerebellar atrophy
    retinal degeneration    ataxia    machado-joseph disease    hereditary ataxia
    cerebellar ataxia    kearns-sayre syndrome    restless legs syndrome    cone-rod dystrophy
    macular dystrophy    retinitis    ophthalmoplegia    multiple system atrophy
    huntington's disease    blindness    hypotonia    pulmonary function

    4 diseases from the University of Copenhagen DISEASES database for ATXN7:
    Cerebellar ataxia     Retinal degeneration     Neurodegenerative disease     Ophthalmoplegia

    ATXN7 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ATXN7 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spinocerebellar ataxia type 7 99.1 43 10602364 (2), 11175279 (2), 10598805 (2), 11354830 (2) (see all 25)
    spinocerebellar ataxias 89.5 5 18325672 (2), 19953482 (1), 10369884 (1), 10453742 (1)
    sca12 88.9 7 19235102 (2), 11914409 (1), 19953482 (1), 17420317 (1)
    sca17 85.6 7 17650485 (2), 19235102 (1), 19953482 (1), 17420317 (1)
    drpla 81.9 13 17650485 (2), 19235102 (2), 10453742 (2), 11914409 (1) (see all 7)
    ataxias hereditary 78.5 3 11175279 (1), 17420317 (1)
    neurodegenerative diseases 74.6 22 10602364 (1), 9736784 (1), 15115762 (1), 16626296 (1) (see all 13)
    machado-joseph disease 70.1 4 19953482 (1), 9613852 (1), 17420317 (1)
    retinal degeneration 69 4 10598805 (2), 14571264 (1), 9425224 (1)
    neurodegeneration 56.8 9 18418675 (2), 12533095 (2), 16962040 (1), 10885657 (1) (see all 6)

    GeneTests: ATXN7
    GeneReviews: ATXN7
    Genetic Association Database (GAD): ATXN7
    Human Genome Epidemiology (HuGE) Navigator: ATXN7 (7 documents)

    Export disorders for ATXN7 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)
    About This Section

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    PubMed articles for ATXN7 gene, integrated from 10 sources (see all 113):
    (articles sorted by number of sources associating them with ATXN7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. (PubMed id 11371513)1, 2, 9 Lebre A.-S.... Brice A. (Hum. Mol. Genet. 2001)
    2. Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. (PubMed id 11734547)1, 2, 9 Matilla A.... Fu Y.H. (Hum. Mol. Genet. 2001)
    3. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. (PubMed id 15115762)1, 2, 9 Helmlinger D.... Devys D. (Hum. Mol. Genet. 2004)
    4. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. (PubMed id 9425224)1, 2, 9 Del-Favero J.... Van Broeckhoven C. (Hum. Mol. Genet. 1998)
    5. SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. (PubMed id 19843541)1, 2, 9 Janer A.... Sittler A. (Hum. Mol. Genet. 2010)
    6. A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. (PubMed id 12533095)1, 2, 9 Einum D.D.... Fu Y.H. (Arch. Neurol. 2003)
    7. Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration. (PubMed id 10598805)1, 3, 9 MichalA-k A....Van Broeckhoven C. (Hum. Genet. 1999)
    8. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. (PubMed id 9288099)1, 2, 9 David G....Brice A. (Nat. Genet. 1997)
    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. Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network. (PubMed id 22100762)1, 2 Nakamura Y.... Okazawa H. (Hum. Mol. Genet. 2012)

    (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)
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    Entrez Gene: 6314 HGNC: 10560 AceView: ATXN7 Ensembl:ENSG00000163635 euGenes: HUgn6314
    ECgene: ATXN7 H-InvDB: ATXN7

    (According to HUGE)
    About This Section

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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 ATXN7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATXN7[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 ATXN7 gene:
    Search GeneIP for patents involving ATXN7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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