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Gene Review

ATXN2  -  ataxin 2

Homo sapiens

Synonyms: ASL13, ATX2, Ataxin-2, SCA2, Spinocerebellar ataxia type 2 protein, ...
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Disease relevance of ATXN2


Psychiatry related information on ATXN2


High impact information on ATXN2


Chemical compound and disease context of ATXN2


Biological context of ATXN2


Anatomical context of ATXN2


Associations of ATXN2 with chemical compounds

  • The ability of polyglutamine tracts to interact with each other, as well as the presence of intra-nuclear inclusions in other polyglutamine disorders, led us to hypothesize that other CAG-containing proteins may interact with expanded ataxin-2 and affect the rate of protein accumulation, and thus influence age at onset [23].
  • A number of peaks in the expanded allele on polyacrylamide gel electrophoresis showed the presence of cell mosaicism in SCA2 as well [24].
  • Using the 1C2 antibody which specifically recognizes large polyglutamine tracts, particularly those that are expanded, we recently reported the detection of proteins with pathological glutamine expansions in lymphoblasts from another form of ADCA type I, SCA2, as well as from patients presenting with the distinct phenotype of ADCA type II [25].
  • Spinocerebellar ataxia type 2 (SCA2) has not previously been described as causing a typical dopamine-responsive asymmetric PD phenotype [15].
  • The parkin mutations and SCA2 were the most frequent genetic causes in our series with Chinese ethnicity [26].

Physical interactions of ATXN2

  • Using the yeast two-hybrid system, we identified a novel protein, A2BP1 (ataxin-2 binding protein 1) which binds to the C-terminus of ataxin-2 [20].
  • Here, we substantiate a function of ataxin-2 in such pathways by demonstrating that ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6, a component of P-bodies and stress granules, representing cellular structures of mRNA triage [27].
  • Parkin interacted with the N-terminal half of normal and mutant ataxin-2, and ubiquitinated the full-length form of both wild-type and mutant ataxin-2 [28].

Regulatory relationships of ATXN2


Other interactions of ATXN2

  • This result implicates RAI1 as a possible contributor to SCA2 neurodegeneration and raises the possibility that other CAG-containing proteins may play a role in the pathogenesis of other polyglutamine disorders [23].
  • Ataxin-2 and A2RP are proteins highly conserved in evolution with orthologs in mouse, cattle, pig, frog, and plants [29].
  • In this study, we have determined the SCA1 and SCA2 genotypes in a Polish population and found significant differences in allele spectra and frequencies from those reported for other populations [30].
  • While the neurons of the basis pontis do not properly belong to this module, pontine atrophy is an important additional lesion in SCA-1, SCA-2, and SCA-7 [31].
  • We show here that the properties of the CAA interruptions are major determinants of the CAG repeat folding in the normal SCA2 transcripts [18].

Analytical, diagnostic and therapeutic context of ATXN2


  1. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Geschwind, D.H., Perlman, S., Figueroa, C.P., Treiman, L.J., Pulst, S.M. Am. J. Hum. Genet. (1997) [Pubmed]
  2. Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways. Ralser, M., Nonhoff, U., Albrecht, M., Lengauer, T., Wanker, E.E., Lehrach, H., Krobitsch, S. Hum. Mol. Genet. (2005) [Pubmed]
  3. Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. Huynh, D.P., Del Bigio, M.R., Ho, D.H., Pulst, S.M. Ann. Neurol. (1999) [Pubmed]
  4. The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Giunti, P., Sabbadini, G., Sweeney, M.G., Davis, M.B., Veneziano, L., Mantuano, E., Federico, A., Plasmati, R., Frontali, M., Wood, N.W. Brain (1998) [Pubmed]
  5. Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism. Kim, J.M., Hong, S., Kim, G.P., Choi, Y.J., Kim, Y.K., Park, S.S., Kim, S.E., Jeon, B.S. Arch. Neurol. (2007) [Pubmed]
  6. Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India. Chattopadhyay, B., Ghosh, S., Gangopadhyay, P.K., Das, S.K., Roy, T., Sinha, K.K., Jha, D.K., Mukherjee, S.C., Chakraborty, A., Singhal, B.S., Bhattacharya, A.K., Bhattacharyya, N.P. Neurosci. Lett. (2003) [Pubmed]
  7. Restless legs syndrome in spinocerebellar ataxia types 1, 2, and 3. Abele, M., Bürk, K., Laccone, F., Dichgans, J., Klockgether, T. J. Neurol. (2001) [Pubmed]
  8. Cognitive deficits in spinocerebellar ataxia 2. Bürk, K., Globas, C., Bösch, S., Gräber, S., Abele, M., Brice, A., Dichgans, J., Daum, I., Klockgether, T. Brain (1999) [Pubmed]
  9. Disturbance of rapid eye movement sleep in spinocerebellar ataxia type 2. Boesch, S.M., Frauscher, B., Brandauer, E., Wenning, G.K., H??gl, B., Poewe, W. Mov. Disord. (2006) [Pubmed]
  10. Determinants of cognitive disorders in Autosomal Dominant Cerebellar Ataxia type 1. Trojano, L., Chiacchio, L., Grossi, D., Pisacreta, A.I., Calabrese, O., Castaldo, I., De Michele, G., Filla, A. J. Neurol. Sci. (1998) [Pubmed]
  11. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Huynh, D.P., Figueroa, K., Hoang, N., Pulst, S.M. Nat. Genet. (2000) [Pubmed]
  12. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.M., Weber, C., Mandel, J.L., Cancel, G., Abbas, N., Dürr, A., Didierjean, O., Stevanin, G., Agid, Y., Brice, A. Nat. Genet. (1996) [Pubmed]
  13. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., Koide, R., Saito, M., Sato, A., Tanaka, T., Hanyu, S., Takiyama, Y., Nishizawa, M., Shimizu, N., Nomura, Y., Segawa, M., Iwabuchi, K., Eguchi, I., Tanaka, H., Takahashi, H., Tsuji, S. Nat. Genet. (1996) [Pubmed]
  14. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Pulst, S.M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X.N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., DeJong, P., Rouleau, G.A., Auburger, G., Korenberg, J.R., Figueroa, C., Sahba, S. Nat. Genet. (1996) [Pubmed]
  15. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Gwinn-Hardy, K., Chen, J.Y., Liu, H.C., Liu, T.Y., Boss, M., Seltzer, W., Adam, A., Singleton, A., Koroshetz, W., Waters, C., Hardy, J., Farrer, M. Neurology (2000) [Pubmed]
  16. SCA2 may present as levodopa-responsive parkinsonism. Payami, H., Nutt, J., Gancher, S., Bird, T., McNeal, M.G., Seltzer, W.K., Hussey, J., Lockhart, P., Gwinn-Hardy, K., Singleton, A.A., Singleton, A.B., Hardy, J., Farrer, M. Mov. Disord. (2003) [Pubmed]
  17. Suppression of myoclonus in SCA2 by piracetam. De Rosa, A., Striano, P., Barbieri, F., de Falco, A., Rinaldi, C., Tucci, T., Striano, S., Filla, A., De Michele, G. Mov. Disord. (2006) [Pubmed]
  18. CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. Sobczak, K., Krzyzosiak, W.J. J. Biol. Chem. (2005) [Pubmed]
  19. The hereditary ataxias. Koeppen, A.H. J. Neuropathol. Exp. Neurol. (1998) [Pubmed]
  20. A novel protein with RNA-binding motifs interacts with ataxin-2. Shibata, H., Huynh, D.P., Pulst, S.M. Hum. Mol. Genet. (2000) [Pubmed]
  21. Synapses in the hereditary ataxias. Koeppen, A.H., Dickson, A.C., Lamarche, J.B., Robitaille, Y. J. Neuropathol. Exp. Neurol. (1999) [Pubmed]
  22. Spinocerebellar ataxia type 2 (SCA2) with white matter involvement. Armstrong, J., Bonaventura, I., Rojo, A., González, G., Corral, J., Nadal, N., Volpini, V., Ferrer, I. Neurosci. Lett. (2005) [Pubmed]
  23. CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). Hayes, S., Turecki, G., Brisebois, K., Lopes-Cendes, I., Gaspar, C., Riess, O., Ranum, L.P., Pulst, S.M., Rouleau, G.A. Hum. Mol. Genet. (2000) [Pubmed]
  24. Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics. Mizushima, K., Watanabe, M., Abe, K., Aoki, M., Itoyama, Y., Shizuka, M., Okamoto, K., Shoji, M. J. Neurol. Sci. (1998) [Pubmed]
  25. Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Stevanin, G., Trottier, Y., Cancel, G., Dürr, A., David, G., Didierjean, O., Bürk, K., Imbert, G., Saudou, F., Abada-Bendib, M., Gourfinkel-An, I., Benomar, A., Abbas, N., Klockgether, T., Grid, D., Agid, Y., Mandel, J.L., Brice, A. Hum. Mol. Genet. (1996) [Pubmed]
  26. Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese cohort. Lu, C.S., Chou, Y.H., Weng, Y.H., Chen, R.S. J. Neural Transm. Suppl. (2006) [Pubmed]
  27. Ataxin-2 Interacts with the DEAD/H-Box RNA Helicase DDX6 and Interferes with P-Bodies and Stress Granules. Nonhoff, U., Ralser, M., Welzel, F., Piccini, I., Balzereit, D., Yaspo, M.L., Lehrach, H., Krobitsch, S. Mol. Biol. Cell (2007) [Pubmed]
  28. Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death. Huynh, D.P., Nguyen, D.T., Pulst-Korenberg, J.B., Brice, A., Pulst, S.M. Exp. Neurol. (2007) [Pubmed]
  29. Identification and expression of the gene for human ataxin-2-related protein on chromosome 16. Figueroa, K.P., Pulst, S.M. Exp. Neurol. (2003) [Pubmed]
  30. Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability. Sobczak, K., Krzyzosiak, W.J. Hum. Mutat. (2004) [Pubmed]
  31. The pathogenesis of spinocerebellar ataxia. Koeppen, A.H. Cerebellum (2005) [Pubmed]
  32. An integrative approach to gain insights into the cellular function of human ataxin-2. Ralser, M., Albrecht, M., Nonhoff, U., Lengauer, T., Lehrach, H., Krobitsch, S. J. Mol. Biol. (2005) [Pubmed]
  33. Identification of five spinocerebellar ataxia type 2 pedigrees in patients with autosomal dominant cerebellar ataxia in Taiwan. Hsieh, M., Li, S.Y., Tsai, C.J., Chen, Y.Y., Liu, C.S., Chang, C.Y., Ro, L.S., Chen, D.F., Chen, S.S., Li, C. Acta neurologica Scandinavica. (1999) [Pubmed]
  34. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Schöls, L., Amoiridis, G., Büttner, T., Przuntek, H., Epplen, J.T., Riess, O. Ann. Neurol. (1997) [Pubmed]
  35. Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. Abele, M., Bürk, K., Andres, F., Topka, H., Laccone, F., Bösch, S., Brice, A., Cancel, G., Dichgans, J., Klockgether, T. Brain (1997) [Pubmed]
  36. A 17th-century founder gives rise to a large north American pedigree of autosomal dominant spinocerebellar ataxia not linked to the SCA1 locus on chromosome 6. Lazzarini, A., Zimmerman, T.R., Johnson, W.G., Duvoisin, R.C. Neurology (1992) [Pubmed]
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