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FLASH GENE
Symbol ATXN2 contributors: mct/ - updated : 11-07-2017
HGNC name ataxin 2
HGNC id 10555
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
  • FAM98A associates with stress granule-localized proteins, such as DDX1, ATXN2, ATXN2L, and NUFIP2
  • 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