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FLASH GENE
Symbol ATXN2 contributors: mct/ - updated : 11-07-2017
HGNC name ataxin 2
HGNC id 10555
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 (27–33 glutamines) in ATXN2 were significantly associated with ALS , and expansion >30 in Europeans
    • Candidate gene
    Marker
    Therapy target
  • TARDBP–ATXN2 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