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ATXN2 Gene

protein-coding   GIFtS: 58
GCID: GC12M111890

Ataxin 2

(Previous names: spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2,...)
(Previous symbols: SCA2, TNRC13)
  See ATXN2-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 21 2     Spinocerebellar Ataxia Type 2 Protein2 3
SCA21 2 3 5     Trinucleotide Repeat-Containing Gene 13 Protein2 3
TNRC131 2 3     ASL132 5
ATX22 3 5     Spinocerebellar Ataxia 2 (Olivopontocerebellar Ataxia 2, Autosomal
Dominant, Ataxin 2)1
Trinucleotide Repeat Containing 131 2     ataxin-22

External Ids:    HGNC: 105551   Entrez Gene: 63112   Ensembl: ENSG000002048427   OMIM: 6015175   UniProtKB: Q997003   

Export aliases for ATXN2 gene to outside databases

Previous GC identifers: GC12M110352 GC12M108904


(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 ATXN2 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. Defects in this gene are the cause of spinocerebellar ataxia
type 2 (SCA2). SCA2 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. SCA2 is caused by expansion of a CAG repeat in the
coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the
diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in
earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been
identified but their full length sequence has not been determined. (provided by RefSeq, Jan 2010)

GeneCards Summary for ATXN2 Gene:
ATXN2 (ataxin 2) is a protein-coding gene. Diseases associated with ATXN2 include ataxia, and olivopontocerebellar atrophy. GO annotations related to this gene include epidermal growth factor receptor binding and RNA binding. An important paralog of this gene is ATXN2L.

UniProtKB/Swiss-Prot: ATX2_HUMAN, Q99700
Function: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the
plasma membrane

Gene Wiki entry for ATXN2 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_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATXN2 gene promoter:
         TBP   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATXN2 promoter sequence
   Search Chromatin IP Primers for ATXN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATXN2


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

Entrez Gene cytogenetic band: 12q24.1   Ensembl cytogenetic band:  12q24.12   HGNC cytogenetic band: 12q23-q24.1

ATXN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M111890:  view genomic region     (about GC identifiers)

Start:
111,890,018 bp from pter      End:
112,037,480 bp from pter
Size:
147,463 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: ATX2_HUMAN, Q99700 (See protein sequence)
Recommended Name: Ataxin-2  
Size: 1313 amino acids; 140283 Da
Subunit: Monomer (By similarity). Can also form homodimers (By similarity). Interacts with TARDBP; the interaction
is RNA-dependent. Interacts with RBFOX1. Interacts with polyribosomes. Interacts with SH3GL2 and SH3GL3.
Interacts with SH3KBP1 and CBL (By similarity). Interacts with EGFR
1 PDB 3D structure from and Proteopedia for ATXN2:
3KTR (3D)    
Secondary accessions: A6NLD4 Q6ZQZ7 Q99493
Alternative splicing: 4 isoforms:  Q99700-1   Q99700-2   Q99700-3   Q99700-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATXN2: NX_Q99700

Explore proteomics data for ATXN2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATXN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002964.3  
    ENSEMBL proteins: 
     ENSP00000373806   ENSP00000373805   ENSP00000476504   ENSP00000366843   ENSP00000446512  
     ENSP00000439338   ENSP00000445583   ENSP00000474645   ENSP00000447741   ENSP00000474442  
     ENSP00000447225   ENSP00000448640   ENSP00000449566   ENSP00000446576  

    ATXN2 Human Recombinant Protein Products:

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    (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

    4 InterPro protein domains:
     IPR009818 Ataxin-2_C
     IPR010920 LSM_dom
     IPR009604 LsmAD_domain
     IPR025852 SM_dom_ATX

    Graphical View of Domain Structure for InterPro Entry Q99700

    ProtoNet protein and cluster: Q99700

    2 Blocks protein domains:
    IPB009604 Ataxin-2
    IPB009818 Ataxin-2


    UniProtKB/Swiss-Prot: ATX2_HUMAN, Q99700
    Similarity: Belongs to the ataxin-2 family


    Find genes that share domains with ATXN2           About GenesLikeMe


    (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, 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: ATX2_HUMAN, Q99700
    Function: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the
    plasma membrane

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding NAS10814712
    GO:0005154epidermal growth factor receptor binding IPI18602463
    GO:0005515protein binding IPI10814712
    GO:0008022protein C-terminus binding IPI15663938
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with ATXN2           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Atxn2):
     adipose tissue  behavior/neurological  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     liver/biliary system  mortality/aging  nervous system  reproductive system 

    Find genes that share phenotypes with ATXN2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ATXN2: Atxn2tm1.1Geno Atxn2tm1Plt

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATXN2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATXN2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATXN2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ATXN2:
    hsa-mir-1226-3p (MIRT036445), hsa-let-7b-5p (MIRT052164)

    Block miRNA regulation of human, mouse, rat ATXN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATXN2 (see all 46):
    hsa-miR-548j hsa-miR-4328 hsa-miR-15a hsa-miR-1245 hsa-miR-503 hsa-miR-218 hsa-miR-424 hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidATXN2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATXN2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for ATXN2 (see all 5)
    OriGene ORF clones in mouse, rat for ATXN2
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    GenScript: all cDNA clones in your preferred vector: ATXN2 (NM_002973)
    Sino Biological Human cDNA Clone for ATXN2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATXN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN2


    (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
    ATX2_HUMAN, Q99700: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus4
    cytosol3
    mitochondrion2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA12812977
    GO:0005802trans-Golgi network IDA10814712

    Find genes that share ontologies with ATXN2           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 ATXN2 About    
    See pathways by source

    SuperPathContained pathways About
    1Parkinsons Disease Pathway
    Parkinsons Disease Pathway

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ATXN2
        Akt Signaling
    Parkinson's Disease Pathway

    1 BioSystems Pathway for ATXN2
        Parkinsons Disease Pathway



        Pathway & Disease-focused RT2 Profiler PCR Array including ATXN2: 
              Parkinson's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ATXN2

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

    Selected Interacting proteins for ATXN2 (Q997001, 2, 3 ENSP000003668434) via UniProtKB, MINT, STRING, and/or I2D (see all 134)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAG6P463792, 3, ENSP000003651314MINT-2864613 I2D: score=3 STRING: ENSP00000365131
    ENSG00000096155P463792, 3MINT-2864613 I2D: score=3 
    ENSG00000227761P463792, 3MINT-2864613 I2D: score=3 
    ENSG00000228760P463792, 3MINT-2864613 I2D: score=3 
    ENSG00000229524P463792, 3MINT-2864613 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002091negative regulation of receptor internalization IMP18602463
    GO:0006417regulation of translation NAS16835262
    GO:0008219cell death IEA--
    GO:0016070RNA metabolic process NAS15663938
    GO:0021702cerebellar Purkinje cell differentiation IEA--

    Find genes that share ontologies with ATXN2           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 ATXN2 (ATX2)

    2 Novoseek inferred chemical compound relationships for ATXN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 75.1 45 16835262 (2), 11305872 (2), 12524342 (2), 10478584 (1) (see all 25)
    polyacrylamide 28.3 1 12490063 (1)



    Find genes that share compounds with ATXN2           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 ATXN2 gene: 
    NM_002973.3  

    Unigene Cluster for ATXN2:

    Ataxin 2
    Hs.76253  [show with all ESTs]
    Unigene Representative Sequence: NM_002973
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000389154 ENST00000389153 ENST00000608853 ENST00000377617(uc001tsh.3 uc001tsi.3 uc001tsj.3 uc001tsk.3)
    ENST00000483311 ENST00000484991 ENST00000482777(uc001tsl.1) ENST00000535949
    ENST00000542287 ENST00000475132 ENST00000550844 ENST00000468920 ENST00000551551
    ENST00000550889 ENST00000551755 ENST00000495342 ENST00000552323 ENST00000492467

    miRNA
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    Block miRNA regulation of human, mouse, rat ATXN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATXN2 (see all 46):
    hsa-miR-548j hsa-miR-4328 hsa-miR-15a hsa-miR-1245 hsa-miR-503 hsa-miR-218 hsa-miR-424 hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidATXN2 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ATXN2
      QuantiFast Probe-based Assays in human, mouse, rat ATXN2

    Additional mRNA sequence: 

    AK126309.1 AK128613.1 AK307803.1 BC111757.1 BC114546.1 U70323.1 Y08262.1 

    22 DOTS entries:

    DT.217220  DT.95368853  DT.100018610  DT.92407277  DT.100823502  DT.97764588  DT.99933699  DT.100823501 
    DT.99940468  DT.121138937  DT.121139012  DT.91768009  DT.92055268  DT.86835853  DT.91768008  DT.92038863 
    DT.92346440  DT.100737619  DT.40116252  DT.40261339  DT.91645976  DT.92326445 

    1 AceView cDNA sequence:

    AA872973 

    GeneLoc Exon Structure


    (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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    ATXN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACACATCAG
    ATXN2 Expression
    About this image

    ATXN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATXN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.76253

    UniProtKB/Swiss-Prot: ATX2_HUMAN, Q99700
    Tissue specificity: Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is
    predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly
    expressed in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra,
    subthalamic nucleus and thalamus

        Pathway & Disease-focused RT2 Profiler PCR Array including ATXN2: 
              Parkinson's Disease in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN2

    (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 animals and fungi.

    Orthologs for ATXN2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atxn21 , 5 ataxin 21, 5 89.2(n)1
    91.82(a)1
      5 (61.93 cM)5
    202391  NM_009125.21  NP_033151.21 
     1217113375 
    chicken
    (Gallus gallus)
    Aves ATXN21 ataxin 2 84.52(n)
    89.38(a)
      416877  XM_004945587.1  XP_004945644.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATXN26
    ataxin 2
    82(a)
    1 ↔ 1
    GL343423.1(755331-793853)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.73122 Xenopus laevis transcribed sequence with moderate similarity more 76.64(n)    BX846533.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atxn21 ataxin 2 64.24(n)
    65.44(a)
      569210  NM_001128349.1  NP_001121821.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atx26
    Ataxin-2
    14(a)
    1 → many
    3R(11234158-11242999)
    worm
    (Caenorhabditis elegans)
    Secernentea atx-26
    Protein ATX-2, isoform c (atx-2) mRNA, complete cd...
    18(a)
    1 → many
    III(10461389-10468050) WBGene00000231
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PBP1(YGR178C)4 Component of glucose deprivation induced stress granules, more   --   7(853215-851047) 853089  NP_011694.1 


    ENSEMBL Gene Tree for ATXN2 (if available)
    TreeFam Gene Tree for ATXN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATXN2 gene
    ATXN2L2  
    1 SIMAP similar gene for ATXN2 using alignment to 14 protein entries:     ATX2_HUMAN (see all proteins):
    ATXN2L

    Find genes that share paralogs with ATXN2           About GenesLikeMe



    (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
    ATX2_HUMAN, Q99700: The poly-Gln region of ATXN2 is polymorphic: 17 to 29 repeats are found in the normal population.
    Higher numbers of repeats result in different disease phenotypes depending on the length of the expansion


    Selected SNPs for ATXN2 (see all 2658)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1170663771,2
    C,F--111890146(+) CAAACT/CTGATT 1 -- ut311Minor allele frequency- C:0.13EA 120
    rs1912264541,2
    C--111890287(+) TGTTAC/TTTCTT 1 -- ut310--------
    rs1412589271,2
    --111890377(+) ACCTGC/TGGGAC 1 -- ut310--------
    rs1503197901,2
    --111890434(+) TGCCTC/GTACTC 1 -- ut310--------
    rs1416001101,2
    F--111890615(+) GCAGCC/TTTACA 1 -- ut311Minor allele frequency- T:0.00NA 4552
    rs2021278281,2
    --111890658(+) AGAAAA/GGCGAA 1 -- int10--------
    rs1379652361,2
    --111890857(+) AGATAA/GAACTC 1 -- int10--------
    rs1911404341,2
    --111891036(+) GGCTGA/GGGCTA 1 -- int10--------
    rs1822838331,2
    --111891208(+) AACTGA/TGTCCT 1 -- int10--------
    rs1143208621,2
    C,F--111891348(+) CCCTCC/TTGTGC 1 -- int11Minor allele frequency- T:0.06WA 118

    HapMap Linkage Disequilibrium report for ATXN2 (111890018 - 112037480 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ATXN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660345CNV Deletion23128226
    dgv313e199CNV Deletion23128226
    esv28414CNV Loss19812545
    esv26285CNV Loss19812545
    nsv510319CNV Loss20534489
    nsv899521CNV Loss21882294
    esv27842CNV Loss19812545
    nsv832513CNV Gain17160897
    nsv899519CNV Gain21882294

    Human Gene Mutation Database (HGMD): ATXN2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATXN2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATXN2

    (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: 601517   
    OMIM disorders: 183090  
    UniProtKB/Swiss-Prot: ATX2_HUMAN, Q99700
  • Spinocerebellar ataxia 2 (SCA2) [MIM:183090]: 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. SCA2 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. SCA2 is characterized by
    hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents
    as pure familial parkinsonism without cerebellar signs. Note=The disease is caused by mutations affecting the
    gene represented in this entry. SCA2 is caused by expansion of a CAG repeat resulting in about 36 to 52 repeats
    in some patients. Longer expansions result in earlier the expansion, onset of the disease
  • Amyotrophic lateral sclerosis 13 (ALS13) [MIM:183090]: A neurodegenerative disorder affecting upper motor
    neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis.
    Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal
    tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and
    deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be
    multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. An
    increased risk for developing amyotrophic lateral sclerosis seems to be conferred by CAG repeat intermediate
    expansions greater than 23 but below the threshold for developing spinocerebellar ataxia

  • 14 diseases for ATXN2:    
    About MalaCards
    ataxia    olivopontocerebellar atrophy    amyotrophic lateral sclerosis 13    spinocerebellar ataxia type 7
    yemenite deaf-blind hypopigmentation syndrome    spinocerebellar ataxia    optic atrophy    spinocerebellar degeneration
    ophthalmoplegia    cerebellar ataxia    friedreich ataxia    dementia
    hereditary ataxia    amyotrophic lateral sclerosis

    4 diseases from the University of Copenhagen DISEASES database for ATXN2:
    Spinocerebellar ataxia     Amyotrophic lateral sclerosis     dentatorubral-pallidoluysian atrophy     Cerebellar ataxia

    Find genes that share disorders with ATXN2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ATXN2 gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spinocerebellar ataxia type 2 98.8 67 10090679 (2), 20016785 (2), 9989626 (2), 9480749 (2) (see all 44)
    spinocerebellar ataxias 90.6 8 9339681 (1), 10090679 (1), 11563629 (1), 9339711 (1) (see all 8)
    sca12 88.8 5 11914409 (1), 19235102 (1), 17420317 (1)
    drpla 87.8 17 9613852 (3), 17650485 (2), 10453742 (2), 9109985 (1) (see all 10)
    sca17 85.4 7 17650485 (2), 19235102 (2), 17420317 (1)
    ataxias hereditary 81.2 5 17420317 (1), 19473475 (1)
    machado-joseph disease 80.2 6 9109985 (1), 9613852 (1), 17420317 (1), 9225982 (1)
    spinocerebellar degenerations 76.9 4 20016785 (1), 18602463 (1), 17392519 (1), 15342467 (1)
    spinocerebellar ataxia type 7 75.1 1 8968739 (1)
    neurodegenerative diseases 73.1 25 10222771 (1), 16128876 (1), 11872620 (1), 15265035 (1) (see all 17)

    GeneTests: ATXN2
    GeneReviews: ATXN2
    Genetic Association Database (GAD): ATXN2
    Human Genome Epidemiology (HuGE) Navigator: ATXN2 (20 documents)

    Export disorders for ATXN2 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 ATXN2 gene, integrated from 10 sources (see all 202):
    (articles sorted by number of sources associating them with ATXN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. (PubMed id 16835262)1, 2, 9 Satterfield T.F. and Pallanck L.J. (Hum. Mol. Genet. 2006)
    2. Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. (PubMed id 18602463)1, 2, 9 Nonis D....Auburger G. (Cell. Signal. 2008)
    3. Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity. (PubMed id 20016785)1, 4, 9 Figueroa K.P....Pulst S.M. (PLoS ONE 2009)
    4. 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)
    5. A novel protein with RNA-binding motifs interacts with ataxin-2. (PubMed id 10814712)1, 2, 9 Shibata H.... Pulst S.-M. (Hum. Mol. Genet. 2000)
    6. Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1. (PubMed id 9480749)1, 2, 9 Sahba S.... Pulst S.-M. (Genomics 1998)
    7. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. (PubMed id 8896556)1, 2, 9 Sanpei K....Tsuji S. (Nat. Genet. 1996)
    8. 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)
    9. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PubMed id 15148151)1, 4, 9 Brusco A....Taroni F. (Arch. Neurol. 2004)
    10. Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. (PubMed id 21383967)1, 4 Zhernakova A....Plenge R.M. (PLoS Genet. 2011)

    (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: 6311 HGNC: 10555 AceView: ATXN2.3 Ensembl:ENSG00000204842 euGenes: HUgn6311
    ECgene: ATXN2 H-InvDB: ATXN2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for ATXN2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATXN2[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 ATXN2 gene:
    Search GeneIP for patents involving ATXN2

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



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