Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ATXN2 contributors: mct/ - updated : 11-07-2015
HGNC name ataxin 2
HGNC id 10555
Corresponding disease
SCA2 spinocerebellar ataxia 2
Location 12q24.12      Physical location : 111.890.018 - 112.037.480
Synonym name trinucleotide repeat containing 13
Synonym symbol(s) ATX2, TNRC13, FLJ46772, ASL13, SCA2
DNA
TYPE functioning gene
STRUCTURE 147.46 kb     25 Exon(s)
regulatory sequence Binding site
motif repetitive sequence   triplet
text structure
  • 22-23 repeats interrupted by one or more triplets polyglutamine repeat s CAA(conferring stability to SCA2 repeat)
  • an E-twenty six (ETS)-binding site in promoter required for ATXN2 expression
  • intermediate length expansions in ATXN2 enhance fragmentation of the Golgi apparatus in cells expressing mutant FUS
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 4712 140 1313 - 2001 11311558
    24 splicing 3993 - 1073 cerebellum 2001 11311558
    lacking exon 10
    23 splicing 3755 - 1005 - 2001 11311558
    lacking exon 10-11
    - splicing - - 1294 brain, cerebellum, spinal cord, heart, placenta 2001 11311558
    lacking exon 21
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrainlimbic systemhippocampusdentate gyrus 
     braindiencephalonhypothalamus  
     brainhindbraincerebellum  
     spinal cord    
    Reproductivemale systemprostate  highly
    Respiratorylung   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    NervousPurkinje cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 15-30 CAG (polyglutamine) tract, in the 5' coding region (first exon)
  • two domains SM1 and SM2 implicated in RNA splicing and protein interactions
  • two proline-rich binding motifs (SBM1 and SBM2)
  • a PABP-interacting motif PAM2
  • a putative (ER) exit motif and a putative clathrin-mediated signal
  • HOMOLOGY
    interspecies homolog to murine Sca2
    intraspecies paralog to ATXN2L
    Homologene
    FAMILY
  • ataxin-2 family, like-Sm (LSm) protein family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleoplasm
    text colocolazing in the perinuclear area with PLS1 and PLS3
    basic FUNCTION
  • regulating actin cytoskeletal structure
  • playing a role in regulating the susceptibility of neuroblastoma cells to apoptotic stimuli
  • play a role in endocytic receptor cycling
  • acts as a co-regulator of ZNF350 activating its own transcription, thereby representing the first identified ZNF350 co-activator
  • plays an important role in predisposing to Amyotrophic lateral sclerosis and polyQ expansions in ataxin 2 are a significant risk factor for the disease
  • is implicated mainly in mRNA processing (pMID: 23335000)
  • is an RNA-binding protein that targets cis-regulatory elements in 3' UTRs to stabilize a subset of mRNAs and increase protein expression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • A2BP1
  • associating with PLS3 and LCP1
  • interacting with endophilin-A1 and A3(SH3GL3 and SH3GL2), by its SH3 domain and with HD
  • interacts with the DEAD/H-box RNA helicase DDX6, a component of P-bodies and stress granules (cellular ataxin-2 concentration is important for the assembly of stress granules and P-bodies, which are main compartments for regulating and controlling mRNA degradation, stability, and translation)
  • interaction between ataxin-2 and TARDBP seems to require RNA
  • ATXN2 and TARDBP associate in a complex that depends on RNA
  • directly interact with the SH3 domains A and C of SH3KBP1 and with the SH3 domain of SRC, a kinase activated after receptor stimulation
  • ZNF350 is an interaction partner of the SCA2 gene product ataxin-2
  • ETS1 regulates the expression of ATXN2
  • ATXN2 associates preferentially with pathological forms of FUS
  • ATXN2L associates with known interaction partners of ATXN2, the RNA helicase DDX6 and the poly(A)-binding protein, and with ATXN2 itself
  • modulates the levels of GRB2 and SRC but not ras signaling
  • CDK5 controls the abundance of both normal and polyQ-expanded ataxin-2 protein in neurons
  • binds directly to RNAs in a PABPC1-independent manner
  • degradation of wildtype and mutant ATXN2 is dependent on FBXW8, and ATXN2 accumulation selectively modulates FBXW8 levels, while PARK2 might act indirectly through FBXW8
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA2
    Susceptibility to amyotrophic lateral sclerosis (ALS)
    Variant & Polymorphism repeat , other
  • association between ataxin-2 and ALS
  • intermediate-length polyQ expansions (2733 glutamines) in ATXN2 were significantly associated with ALS , and expansion >30 in Europeans
  • Candidate gene
    Marker
    Therapy target
  • TARDBPATXN2 interaction may be a promising target for therapeutic intervention in ALS
  • ANIMAL & CELL MODELS
  • a drosophhila homolog acting as a dosage-sensitive regulator of actin filament formation
  • ATXN2 knockout (KO) mice show hypertrophy and insulin resistance