Citations for
1ACTN2, DM1, PDLIM3
Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.
Ohsawa N, Koebis M, Suo S, Nishino I, Ishiura S.
Biochem Biophys Res Commun 409(1):64-9. Epub 2011 Apr 28. 2011
2ACTN2
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.
Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C.
J Am Coll Cardiol 55(11):1127-35. 2010
3ACTN2, KCNN2
Alpha-actinin2 cytoskeletal protein is required for the functional membrane localization of a Ca2+-activated K+ channel (SK2 channel).
Lu L, Timofeyev V, Li N, Rafizadeh S, Singapuri A, Harris TR, Chiamvimonvat N.
Proc Natl Acad Sci U S A 106(43):18402-7. Epub 2009 Oct 8. 2009
4ACTN2, RAPSN
alpha-Actinin interacts with rapsyn in agrin-stimulated AChR clustering.
Dobbins GC, Luo S, Yang Z, Xiong WC, Mei L.
Mol Brain 1:18. 2008
5ACTN2, ACTN3
The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3.
Agarwal SK, Simonds WF, Marx SJ.
Mol Cancer 7:65. 2008
6ACTN2, KCNN2
Molecular coupling of a Ca2+-activated K+ channel to L-type Ca2+ channels via alpha-actinin2.
Lu L, Zhang Q, Timofeyev V, Zhang Z, Young JN, Shin HS, Knowlton AA, Chiamvimonvat N.
Circ Res 100(1):112-20. Epub 2006 Nov 16. 2007
7ACTN2, PKD2
Alpha-actinin associates with polycystin-2 and regulates its channel activity.
Li Q, Montalbetti N, Shen PY, Dai XQ, Cheeseman CI, Karpinski E, Wu G, Cantiello HF, Chen XZ.
Hum Mol Genet 14(12):1587-603. Epub 2005 Apr 20. 2005
8ACTN2, PDLIM2
Pdlim2, a novel PDZ-LIM domain protein, interacts with alpha-actinins and filamin A.
Torrado M, Senatorov VV, Trivedi R, Fariss RN, Tomarev SI.
Invest Ophthalmol Vis Sci 45(11):3955-63. 2004
9ACTN2, CMD1M, CSRP3
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.
Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE.
Mol Genet Metab 80(1-2):207-15. 2003
10ACTN2, KCNA4, KCNA5
A discrete amino terminal domain of Kv1.5 and Kv1.4 potassium channels interacts with the spectrin repeats of alpha-actinin-2.
Cukovic D, Lu GW, Wible B, Steele DF, Fedida D.
FEBS Lett 498(1):87-92. 2001
11ACTN2
alpha-actinin-2 is a new component of the dystrophin-glycoprotein complex.
Hance JE, et al.
Arch Biochem Biophys 365(2):216-22. 1999
12ACTN2
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 GA.
Biochem Biophys Res Commun 265(1):256-9 1999
13ACTN2, ACTN3
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.
Beggs AH, et al.
J Biol Chem 267 : 9281-9288. 1992
14ACTN2
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 AH, et al.
Genomics 13 : 1314-1315. 1992