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ACTN2  -  actinin, alpha 2

Homo sapiens

 
 
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Disease relevance of ACTN2

 

High impact information on ACTN2

 

Biological context of ACTN2

 

Anatomical context of ACTN2

 

Associations of ACTN2 with chemical compounds

 

Physical interactions of ACTN2

  • Additional clustering of NMDA receptors is provided through the binding of NRI subunits to the cytoskeletal protein alpha-actinin-2 [13].
  • The alpha-actinin-2 binding site of the Z-disc titin is located within a sequence of 45-residue repeats, referred to as Z-repeat region [14].
  • ZASP PDZ structure was used to model other members of the enigma family by homology and to predict their abilities to bind alpha-actinin-2 [15].
 

Other interactions of ACTN2

  • We used linkage analysis with polymorphic CA repeats to test for the involvement of two candidate loci, APOA2 and ACTN2 [16].
  • Interaction of hCLIM1, an enigma family protein, with alpha-actinin 2 [17].
  • Here, using a yeast two-hybrid approach, we have identified the F-actin cross-linking protein filamin as a ligand for the caveolae-associated protein caveolin-1 [18].
  • We have determined the structure of ZASP PDZ by NMR and showed that it is a classical class 1 PDZ domain that recognizes the carboxy-terminal sequence of an alpha-actinin-2 calmodulin-like domain with micromolar affinity [15].
  • Furthermore, this modulation showed remarkable preference for NMDA receptor inactivation mediated by alpha-actinin-2 [19].
 

Analytical, diagnostic and therapeutic context of ACTN2

  • Analysis in cell culture systems demonstrated that the mutation abolishes the interaction between MLP and alpha-actinin-2 and the cellular localization of MLP was altered [20].
  • Using a human muscle frozen section with an area of 4800 microm2 as a model target, we successfully selected monoclonal antibody fragments directed against three major (myosin heavy chain, actin, and tropomyosin-alpha) and one minor (alpha-actinin 2) muscle constituent proteins [21].
  • Three genes, NOS3, alpha-actinin-2 and alpha-catenin, suspected of playing a role in tumor genesis, were explored by quantitative RT-PCR analysis and immunohistochemistry [22].
  • To address this issue, we expressed both alpha-actinin-2 and -3 in vitro and were able to detect their interaction by both blot overlay and co-immunoprecipitation methods [23].

References

  1. Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle. Tiso, N., Majetti, M., Stanchi, F., Rampazzo, A., Zimbello, R., Nava, A., Danieli, G.A. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
  2. ZASP: a new Z-band alternatively spliced PDZ-motif protein. Faulkner, G., Pallavicini, A., Formentin, E., Comelli, A., Ievolella, C., Trevisan, S., Bortoletto, G., Scannapieco, P., Salamon, M., Mouly, V., Valle, G., Lanfranchi, G. J. Cell Biol. (1999) [Pubmed]
  3. Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs. Xia, H., Winokur, S.T., Kuo, W.L., Altherr, M.R., Bredt, D.S. J. Cell Biol. (1997) [Pubmed]
  4. ACTN3 genotype is associated with human elite athletic performance. Yang, N., MacArthur, D.G., Gulbin, J.P., Hahn, A.G., Beggs, A.H., Easteal, S., North, K. Am. J. Hum. Genet. (2003) [Pubmed]
  5. Ca2+-independent binding of an EF-hand domain to a novel motif in the alpha-actinin-titin complex. Atkinson, R.A., Joseph, C., Kelly, G., Muskett, F.W., Frenkiel, T.A., Nietlispach, D., Pastore, A. Nat. Struct. Biol. (2001) [Pubmed]
  6. Regulation of calcium/calmodulin-dependent protein kinase II docking to N-methyl-D-aspartate receptors by calcium/calmodulin and alpha-actinin. Leonard, A.S., Bayer, K.U., Merrill, M.A., Lim, I.A., Shea, M.A., Schulman, H., Hell, J.W. J. Biol. Chem. (2002) [Pubmed]
  7. Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. Beggs, A.H., Byers, T.J., Knoll, J.H., Boyce, F.M., Bruns, G.A., Kunkel, L.M. J. Biol. Chem. (1992) [Pubmed]
  8. A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Beggs, A.H., Phillips, H.A., Kozman, H., Mulley, J.C., Wilton, S.D., Kunkel, L.M., Laing, N.G. Genomics (1992) [Pubmed]
  9. Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. North, K.N., Beggs, A.H. Neuromuscul. Disord. (1996) [Pubmed]
  10. alpha-actinin-2 couples to cardiac Kv1.5 channels, regulating current density and channel localization in HEK cells. Maruoka, N.D., Steele, D.F., Au, B.P., Dan, P., Zhang, X., Moore, E.D., Fedida, D. FEBS Lett. (2000) [Pubmed]
  11. Clustering and anchoring mechanisms of molecular constituents of postsynaptic scaffolds in dendritic spines. Shirao, T., Sekino, Y. Neurosci. Res. (2001) [Pubmed]
  12. Reduced ethanol inhibition of N-methyl-D-aspartate receptors by deletion of the NR1 C0 domain or overexpression of alpha-actinin-2 proteins. Anders, D.L., Blevins, T., Smothers, C.T., Woodward, J.J. J. Biol. Chem. (2000) [Pubmed]
  13. Pathophysiological implications of the structural organization of the excitatory synapse. Cattabeni, F., Gardoni, F., Di Luca, M. Eur. J. Pharmacol. (1999) [Pubmed]
  14. Tissue-specific expression and alpha-actinin binding properties of the Z-disc titin: implications for the nature of vertebrate Z-discs. Sorimachi, H., Freiburg, A., Kolmerer, B., Ishiura, S., Stier, G., Gregorio, C.C., Labeit, D., Linke, W.A., Suzuki, K., Labeit, S. J. Mol. Biol. (1997) [Pubmed]
  15. Solution structure of ZASP PDZ domain; implications for sarcomere ultrastructure and enigma family redundancy. Au, Y., Atkinson, R.A., Guerrini, R., Kelly, G., Joseph, C., Martin, S.R., Muskett, F.W., Pallavicini, A., Faulkner, G., Pastore, A. Structure (Camb.) (2004) [Pubmed]
  16. Exclusion of two candidate loci for autosomal recessive nemaline myopathy. Tahvanainen, E., Beggs, A.H., Wallgren-Pettersson, C. J. Med. Genet. (1994) [Pubmed]
  17. Interaction of hCLIM1, an enigma family protein, with alpha-actinin 2. Kotaka, M., Kostin, S., Ngai, S., Chan, K., Lau, Y., Lee, S.M., Li, H., Ng, E.K., Schaper, J., Tsui, S.K., Fung, K., Lee, C., Waye, M.M. J. Cell. Biochem. (2000) [Pubmed]
  18. Identification of filamin as a novel ligand for caveolin-1: evidence for the organization of caveolin-1-associated membrane domains by the actin cytoskeleton. Stahlhut, M., van Deurs, B. Mol. Biol. Cell (2000) [Pubmed]
  19. Brain-specific regulator of G-protein signaling 9-2 selectively interacts with alpha-actinin-2 to regulate calcium-dependent inactivation of NMDA receptors. Bouhamdan, M., Yan, H.D., Yan, X.H., Bannon, M.J., Andrade, R. J. Neurosci. (2006) [Pubmed]
  20. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mohapatra, B., Jimenez, S., Lin, J.H., Bowles, K.R., Coveler, K.J., Marx, J.G., Chrisco, M.A., Murphy, R.T., Lurie, P.R., Schwartz, R.J., Elliott, P.M., Vatta, M., McKenna, W., Towbin, J.A., Bowles, N.E. Mol. Genet. Metab. (2003) [Pubmed]
  21. In situ phage screening. A method for identification of subnanogram tissue components in situ. Tanaka, T., Ito, T., Furuta, M., Eguchi, C., Toda, H., Wakabayashi-Takai, E., Kaneko, K. J. Biol. Chem. (2002) [Pubmed]
  22. Gene profiling reveals specific oncogenic mechanisms and signaling pathways in oncocytic and papillary thyroid carcinoma. Baris, O., Mirebeau-Prunier, D., Savagner, F., Rodien, P., Ballester, B., Loriod, B., Granjeaud, S., Guyetant, S., Franc, B., Houlgatte, R., Reynier, P., Malthiery, Y. Oncogene (2005) [Pubmed]
  23. Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. Chan, Y., Tong, H.Q., Beggs, A.H., Kunkel, L.M. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
 
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