Genomes and Genes
Gene Symbol: ACTN2
Description: actinin alpha 2
Alias: CMD1AA, CMH23, alpha-actinin-2, F-actin cross-linking protein, alpha-actinin skeletal muscle
- Wyszynski M, Lin J, Rao A, Nigh E, Beggs A, Craig A, et al. Competitive binding of alpha-actinin and calmodulin to the NMDA receptor. Nature. 1997;385:439-42 pubmed..Intriguingly, NR1-alpha-actinin binding is directly antagonized by Ca2+/calmodulin. Thus alpha-actinin may play a role in both the localization of NMDA receptors and their modulation by Ca2+. ..
- Gregorio C, Trombitas K, Centner T, Kolmerer B, Stier G, Kunke K, et al. The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity. J Cell Biol. 1998;143:1013-27 pubmed
- Lee K, Yu P, Lingampalli N, Kim H, Tang R, Murthy N. Peptide-enhanced mRNA transfection in cultured mouse cardiac fibroblasts and direct reprogramming towards cardiomyocyte-like cells. Int J Nanomedicine. 2015;10:1841-54 pubmed publisher..mouse cardiac fibroblasts via C-Lipo significantly increased expression of the cardiomyocyte marker genes, Actc1, Actn2, Gja1, Hand2, and Tnnt2, after 2 weeks of transfection...
- Hogarth M, Garton F, Houweling P, Tukiainen T, Lek M, MacArthur D, et al. Analysis of the ACTN3 heterozygous genotype suggests that Î±-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion. Hum Mol Genet. 2016;25:866-77 pubmed publisher..in the human genotype-tissue expression cohort, but does not influence any other muscle transcripts, including ACTN2. Overall, ACTN3 influences sarcomeric composition in a dose-dependent fashion in mouse skeletal muscle, which ..
- Eldstrom J, Doerksen K, Steele D, Fedida D. N-terminal PDZ-binding domain in Kv1 potassium channels. FEBS Lett. 2002;531:529-37 pubmed..These findings may have important implications for the regulation of channel expression and function by PDZ proteins like PSD95. ..
- Sverdlov M, Shinin V, Place A, Castellon M, Minshall R. Filamin A regulates caveolae internalization and trafficking in endothelial cells. Mol Biol Cell. 2009;20:4531-40 pubmed publisher..Taken together, these data suggest that filamin A association with caveolin-1 promotes caveolae-mediated transport by regulating vesicle internalization, clustering, and trafficking. ..
- Huang S, Huang C, Wang W, Kang J, Hsu W. The enhancement of nuclear receptor transcriptional activation by a mouse actin-binding protein, alpha actinin 2. J Mol Endocrinol. 2004;32:481-96 pubmed..In screening for mammalian proteins that bind the AD2 of GRIP1, we identified a mouse actin-binding protein, alpha actinin 2 (mACTN2)...
- Faulkner G, Lanfranchi G, Valle G. Telethonin and other new proteins of the Z-disc of skeletal muscle. IUBMB Life. 2001;51:275-82 pubmed..A greater knowledge of Z-disc proteins and their interactions is essential for understanding their role in the structure and function of muscle. ..
- Li Y, Wang J, Zhou Y, Li D, Xiong Z. Rcan1 deficiency impairs neuronal migration and causes periventricular heterotopia. J Neurosci. 2015;35:610-20 pubmed publisher..Together, these findings demonstrate that Rcan1 acts upstream from Flna in regulating radial migration and suggest that impairment of Rcan1-Flna pathway may underlie PH pathogenesis. ..
- Siddam A, Gautier Courteille C, Perez Campos L, Anand D, Kakrana A, Dang C, et al. The RNA-binding protein Celf1 post-transcriptionally regulates p27Kip1 and Dnase2b to control fiber cell nuclear degradation in lens development. PLoS Genet. 2018;14:e1007278 pubmed publisher..alternative splicing of the membrane-organization factor beta-spectrin and regulates F-actin-crosslinking factor Actn2 mRNA levels, thereby controlling fiber cell morphology...
- Anborgh P, Qian X, Papageorge A, Vass W, DeClue J, Lowy D. Ras-specific exchange factor GRF: oligomerization through its Dbl homology domain and calcium-dependent activation of Raf. Mol Cell Biol. 1999;19:4611-22 pubmed
- Morris J, Kandpal G, Ma L, Austin C. DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation. Hum Mol Genet. 2003;12:1591-608 pubmed
- Burgueno J, Blake D, Benson M, Tinsley C, Esapa C, Canela E, et al. The adenosine A2A receptor interacts with the actin-binding protein alpha-actinin. J Biol Chem. 2003;278:37545-52 pubmed..These findings suggest an alpha-actinin-dependent association between the actin cytoskeleton and A2AR trafficking. ..
- Christoforou N, Chakraborty S, Kirkton R, Adler A, Addis R, Leong K. Core Transcription Factors, MicroRNAs, and Small Molecules Drive Transdifferentiation of Human Fibroblasts Towards The Cardiac Cell Lineage. Sci Rep. 2017;7:40285 pubmed publisher..Cells undergoing transdifferentiation expressed ACTN2 and TNNT2 and partially organized their cytoskeleton in a cross-striated manner...
- Rybakova I, Patel J, Davies K, Yurchenco P, Ervasti J. Utrophin binds laterally along actin filaments and can couple costameric actin with sarcolemma when overexpressed in dystrophin-deficient muscle. Mol Biol Cell. 2002;13:1512-21 pubmed..More generally, our results raise the possibility that spectrin-like repeats may enable some members of the plakin family of cytolinkers to laterally bind and stabilize actin filaments. ..
- Pollock L, Gupta N, Chen X, Luna E, McDermott B. Supervillin Is a Component of the Hair Cell's Cuticular Plate and the Head Plates of Organ of Corti Supporting Cells. PLoS ONE. 2016;11:e0158349 pubmed publisher..Overall, supervillin localization suggests this protein may shape the surface structure of the organ of Corti. ..
- Zimmerman R, Cox S, Lakdawala N, Cirino A, Mancini Dinardo D, Clark E, et al. A novel custom resequencing array for dilated cardiomyopathy. Genet Med. 2010;12:268-78 pubmed publisher..Compared with traditional Sanger-based sequencing, test cost and turn around time were reduced by approximately 50%. The DCM CardioChip is a highly efficient screening test with a projected clinical sensitivity of 26-29%. ..
- Lu L, Zhang Q, Timofeyev V, Zhang Z, Young J, Shin H, et al. Molecular coupling of a Ca2+-activated K+ channel to L-type Ca2+ channels via alpha-actinin2. Circ Res. 2007;100:112-20 pubmed
- Walsh R, Buchan R, Wilk A, John S, Felkin L, Thomson K, et al. Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes. Eur Heart J. 2017;: pubmed publisher..g. actn2)...
- Jalan Sakrikar N, Bartlett R, Baucum A, Colbran R. Substrate-selective and calcium-independent activation of CaMKII by ?-actinin. J Biol Chem. 2012;287:15275-83 pubmed publisher..These data show that Ca(2+)-independent binding of ?-actinin to CaMKII differentially modulates the phosphorylation of physiological targets that play key roles in long-term synaptic plasticity. ..
- Pan L, Zhao Y, Farouk M, Bao N, Wang T, Qin G. Integrins Were Involved in Soybean Agglutinin Induced Cell Apoptosis in IPEC-J2. Int J Mol Sci. 2018;19: pubmed publisher..05). Even SBA had no physical connection with integrins, an association was detected between SBA and ?-actinin-2 ACTN2 (integrin-binding protein)...
- Gupta V, Discenza M, Guyon J, Kunkel L, Beggs A. ?-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by ?-actinin-3 revealing functional differences between sarcomeric isoforms. FASEB J. 2012;26:1892-908 pubmed publisher..Morpholino-based knockdown of the sarcomeric isoform, actn2, leads to skeletal muscle, cardiac, and ocular defects evident over the first week of development...
- Murphy A, Young P. The actinin family of actin cross-linking proteins - a genetic perspective. Cell Biosci. 2015;5:49 pubmed publisher..ACTN1 mutations cause macrothrombocytopenia, a platelet disorder characterized by excessive bleeding. ACTN2 mutations have been linked to a range of cardiomyopathies, and ACTN4 mutations cause a kidney condition called ..
- Lu L, Timofeyev V, Li N, Rafizadeh S, Singapuri A, Harris T, et al. Alpha-actinin2 cytoskeletal protein is required for the functional membrane localization of a Ca2+-activated K+ channel (SK2 channel). Proc Natl Acad Sci U S A. 2009;106:18402-7 pubmed publisher..The importance of our findings may transcend the area of K(+) channels, given that similar cytoskeletal interaction and anchoring may be critical for the membrane localization of other ion channels in neurons and other excitable cells. ..
- Eldstrom J, Choi W, Steele D, Fedida D. SAP97 increases Kv1.5 currents through an indirect N-terminal mechanism. FEBS Lett. 2003;547:205-11 pubmed..5 co-immunoprecipitated very inefficiently with SAP97 from rat ventricular myocytes. Thus, we conclude that the influence of SAP97 on Kv1.5 potassium current levels is dependent upon a novel regulatory mechanism. ..
- Spaich S, Will R, Just S, Spaich S, Kuhn C, Frank D, et al. F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo. Circ Res. 2012;111:1504-16 pubmed publisher..Fbxl22 promotes the proteasome-dependent degradation of key sarcomeric proteins, such as ?-actinin and filamin C, and is essential for maintenance of normal contractile function in vivo. ..
- Wystrychowski W, Patlolla B, Zhuge Y, Neofytou E, Robbins R, Beygui R. Multipotency and cardiomyogenic potential of human adipose-derived stem cells from epicardium, pericardium, and omentum. Stem Cell Res Ther. 2016;7:84 pubmed publisher..Expression of cardiac troponin T (cTNT) and alpha-actinin (Actn2) was analyzed 3 weeks after initiation of the cardiac differentiation...
- Nikolopoulos S, Spengler B, Kisselbach K, Evans A, Biedler J, Ross R. The human non-muscle alpha-actinin protein encoded by the ACTN4 gene suppresses tumorigenicity of human neuroblastoma cells. Oncogene. 2000;19:380-6 pubmed
- Zhu J, Shi X, Lu H, Xia B, Li Y, Li X, et al. RNA-seq transcriptome analysis of extensor digitorum longus and soleus muscles in large white pigs. Mol Genet Genomics. 2016;291:687-701 pubmed publisher..Moreover, transcriptome comparison between EDL and Sol identified many muscle-related genes (CSRP3, ACTN2, MYL1, and MYH6) and pathways related to myofiber formation, such as focal adhesion, tight junction formation, ..
- Gehmlich K, Geier C, Osterziel K, van der Ven P, Furst D. Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy. Cell Tissue Res. 2004;317:129-36 pubmed
- Zhang S, Ehlers M, Bernhardt J, Su C, Huganir R. Calmodulin mediates calcium-dependent inactivation of N-methyl-D-aspartate receptors. Neuron. 1998;21:443-53 pubmed
- Guo M, Li Y, Chen Y, Guo X, Yuan Z, Jiang Y. Genome-wide mapping of estrogen receptor ? binding sites by ChIP-seq to identify genes related to sexual maturity in hens. Gene. 2018;642:32-42 pubmed publisher..47 protein nodes and 164 interaction edges, among which, AKT1 (V-Akt Murine Thymoma Viral Oncogene Homolog 1) and ACTN2 (Actinin Alpha 2) with the highest weight in the network, followed by CREB1 (CAMP Responsive Element Binding ..
- Yürüker B, Niggli V. Alpha-actinin and vinculin in human neutrophils: reorganization during adhesion and relation to the actin network. J Cell Sci. 1992;101 ( Pt 2):403-14 pubmed..Our results suggest a specialized function of vinculin in adhesion sites of human neutrophils, whereas alpha-actinin may structure the actin network in retraction fibers and in less adherent pseudopods. ..
- Galliano M, Huet C, Frygelius J, Polgren A, Wewer U, Engvall E. Binding of ADAM12, a marker of skeletal muscle regeneration, to the muscle-specific actin-binding protein, alpha -actinin-2, is required for myoblast fusion. J Biol Chem. 2000;275:13933-9 pubmed..Our results suggest that interaction of ADAM12 with alpha-actinin-2 is important for ADAM12 function. ..
- Williams C, Phelps S, Porter R. Expression of Ca2+/calmodulin-dependent protein kinase types II and IV, and reduced DNA synthesis due to the Ca2+/calmodulin-dependent protein kinase inhibitor KN-62 (1-[N,O-bis(5-isoquinolinesulfonyl)-N-methyl-L-tyrosyl]-4-phenyl piperazine) in smal. Biochem Pharmacol. 1996;51:707-15 pubmed..The expression of both CaMKII and CaMKIV by SCLC cells, and the sensitivity of these cells to the anti-proliferative effects of KN-62, suggest a role for CaM kinase in regulating SCLC proliferation. ..
- Asanuma K, Kim K, Oh J, Giardino L, Chabanis S, Faul C, et al. Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner. J Clin Invest. 2005;115:1188-98 pubmed..In concert, synaptopodin regulates the actin-bundling activity of alpha-actinin in highly dynamic cell compartments, such as podocyte FPs and the dendritic spine apparatus. ..
- Guvakova M, Adams J, Boettiger D. Functional role of alpha-actinin, PI 3-kinase and MEK1/2 in insulin-like growth factor I receptor kinase regulated motility of human breast carcinoma cells. J Cell Sci. 2002;115:4149-65 pubmed
- Agarwal S, Simonds W, Marx S. The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3. Mol Cancer. 2008;7:65 pubmed publisher..These data also suggest that actinins (and actin) participate in sequestering parafibromin in the cytoplasmic compartment. ..
- Shepard S, Danzeisen J, Isaacson R, Seemann T, Achtman M, Johnson T. Genome sequences and phylogenetic analysis of K88- and F18-positive porcine enterotoxigenic Escherichia coli. J Bacteriol. 2012;194:395-405 pubmed publisher..coli lineages that either have an increased propensity to carry plasmid-encoded virulence factors or have the appropriate ETEC core genome required for virulence. ..
- Frey N, Richardson J, Olson E. Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. Proc Natl Acad Sci U S A. 2000;97:14632-7 pubmed..Calsarcins represent a novel family of sarcomeric proteins that link calcineurin with the contractile apparatus, thereby potentially coupling muscle activity to calcineurin activation. ..
- Witt C, Burkart C, Labeit D, McNabb M, Wu Y, Granzier H, et al. Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo. EMBO J. 2006;25:3843-55 pubmed
- Jiang L, Wen S, Wang H, Chen L. Screening the proteins that interact with calpain in a human heart cDNA library using a yeast two-hybrid system. Hypertens Res. 2002;25:647-52 pubmed..Additional studies will be needed to clarify the calpain-related signal transduction pathway in greater detail. ..
- Bang M, Mudry R, McElhinny A, Trombitas K, Geach A, Yamasaki R, et al. Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. J Cell Biol. 2001;153:413-27 pubmed..Our data also suggest that myopalladin may link regulatory mechanisms involved in Z-line structure (via alpha-actinin and nebulin/nebulette) to those involved in muscle gene expression (via CARP). ..
- Triplett J, Pavalko F. Disruption of alpha-actinin-integrin interactions at focal adhesions renders osteoblasts susceptible to apoptosis. Am J Physiol Cell Physiol. 2006;291:C909-21 pubmed..Thus we conclude that alpha-actinin plays a role in regulating cell survival through stabilization of focal adhesions and regulation of TNF-alpha-induced survival signaling. ..
- Offenhauser N, Borgonovo A, Disanza A, Romano P, Ponzanelli I, Iannolo G, et al. The eps8 family of proteins links growth factor stimulation to actin reorganization generating functional redundancy in the Ras/Rac pathway. Mol Biol Cell. 2004;15:91-8 pubmed..Finally, the patterns of expression of eps8 and eps8L2 in mice are remarkably overlapping, thus providing a likely explanation for the lack of overt phenotype in eps8 null mice. ..
- Norman B, Esbjörnsson M, Rundqvist H, Osterlund T, von Walden F, Tesch P. Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. J Appl Physiol (1985). 2009;106:959-65 pubmed publisher..expresses two alpha-actinin isoforms, alpha-actinin-2 and alpha-actinin-3, encoded by their respective genes ACTN2 and ACTN3...
- Chan Y, Tong H, Beggs A, Kunkel L. Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. Biochem Biophys Res Commun. 1998;248:134-9 pubmed..Our results clearly demonstrate the potential for alpha-actinin isoforms to form heterodimers which might have unique functional characteristics. ..
- Krupp J, Vissel B, Thomas C, Heinemann S, Westbrook G. Interactions of calmodulin and alpha-actinin with the NR1 subunit modulate Ca2+-dependent inactivation of NMDA receptors. J Neurosci. 1999;19:1165-78 pubmed
- Robison A, Bass M, Jiao Y, MacMillan L, Carmody L, Bartlett R, et al. Multivalent interactions of calcium/calmodulin-dependent protein kinase II with the postsynaptic density proteins NR2B, densin-180, and alpha-actinin-2. J Biol Chem. 2005;280:35329-36 pubmed
- Andersen D, Tannenberg A, Burke C, Dodd P. Developmental rearrangements of cortical glutamate-NMDA receptor binding sites in late human gestation. Brain Res Dev Brain Res. 1995;88:178-85 pubmed..The evidence suggests that Glutamate-NMDA binding sites may undergo structural rearrangements which alter their ability to interact with ligands during the later stages of human gestation, and that such changes are regionally variable. ..
- Li Q, Montalbetti N, Shen P, Dai X, Cheeseman C, Karpinski E, et al. Alpha-actinin associates with polycystin-2 and regulates its channel activity. Hum Mol Genet. 2005;14:1587-603 pubmed..Thus, physical and functional interactions between PC2 and alpha-actinin may play an important role in abnormal cell adhesion, proliferation and migration observed in ADPKD. ..
- Zhang Z, Ledford H, Park S, Wang W, Rafizadeh S, Kim H, et al. Distinct subcellular mechanisms for the enhancement of the surface membrane expression of SK2 channel by its interacting proteins, Î±-actinin2 and filamin A. J Physiol. 2017;595:2271-2284 pubmed publisher..Actinin2 facilitated recycling of SK2 channels from both early and recycling endosomes while filamin A probably aids the recycling of SK2 channels from recycling endosomes. ..
- Takada F, Vander Woude D, Tong H, Thompson T, Watkins S, Kunkel L, et al. Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A. 2001;98:1595-600 pubmed..Thus, myozenin is a skeletal muscle Z line protein that may be a good candidate gene for limb-girdle muscular dystrophy or other neuromuscular disorders. ..
- Yang N, Garton F, North K. alpha-actinin-3 and performance. Med Sport Sci. 2009;54:88-101 pubmed publisherThe human sarcomeric alpha-actinins (ACTN2 and ACTN3) are major structural components of the Z line in skeletal muscle; they play a role in the maintenance of sarcomeric integrity and also interact with a wide variety of structural, ..
- Hu H, Gao X, Sun Y, Zhou J, Yang M, Xu Z. Alpha-actinin-2, a cytoskeletal protein, binds to angiogenin. Biochem Biophys Res Commun. 2005;329:661-7 pubmed..Our finding presents the first evidence of an interaction of a cytosolic protein with angiogenin, which might be a novel interference target for anti-angiogenesis and anti-tumor therapy. ..
- Huttelmaier S, Illenberger S, Grosheva I, Rudiger M, Singer R, Jockusch B. Raver1, a dual compartment protein, is a ligand for PTB/hnRNPI and microfilament attachment proteins. J Cell Biol. 2001;155:775-86 pubmed..During muscle differentiation, raver1 migrates from the nucleus to the costamere. We propose that raver1 may coordinate RNA processing and targeting as required for microfilament anchoring in specific adhesion sites. ..
- Wollmuth L, Kuner T, Sakmann B. Adjacent asparagines in the NR2-subunit of the NMDA receptor channel control the voltage-dependent block by extracellular Mg2+. J Physiol. 1998;506 ( Pt 1):13-32 pubmed..The contribution to the blocking site, in contrast to the prevailing view, is stronger for the N + 1 site than for the N-site asparagine. The block may involve binding of Mg2+ to these residues. ..
- Yoshida M, Westlin W, Wang N, Ingber D, Rosenzweig A, Resnick N, et al. Leukocyte adhesion to vascular endothelium induces E-selectin linkage to the actin cytoskeleton. J Cell Biol. 1996;133:445-55 pubmed
- Cairns B, Svensson P, Wang K, Hupfeld S, Graven Nielsen T, Sessle B, et al. Activation of peripheral NMDA receptors contributes to human pain and rat afferent discharges evoked by injection of glutamate into the masseter muscle. J Neurophysiol. 2003;90:2098-105 pubmed..It is conceivable that activation of peripheral NMDA receptors may contribute to masticatory muscle pain and that peripherally acting NMDA receptor antagonists could prove to be effective analgesics for this type of pain. ..
- Cukovic D, Lu G, Wible B, Steele D, Fedida D. A discrete amino terminal domain of Kv1.5 and Kv1.4 potassium channels interacts with the spectrin repeats of alpha-actinin-2. FEBS Lett. 2001;498:87-92 pubmed..5 binding sites in alpha-actinin-2 were found to lie within actinin's internal spectrin repeats. Unlike the reported interaction between actinin and the NMDA receptor, calmodulin was found to have no effect on actinin binding to Kv1.5. ..
- Tiso N, Majetti M, Stanchi F, Rampazzo A, Zimbello R, Nava A, et al. 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. Biochem Biophys Res Commun. 1999;265:256-9 pubmedThe present paper reports on the fine mapping of the ACTN2 gene and on the reconstruction of its genomic structure. By radiation hybrid mapping, the gene was located about 912 cR from the 1p-telomere...
- Stanley B, Feingold E, Cooper M, Vanyukov M, Maher B, Slayton R, et al. Genetic Association of MPPED2 and ACTN2 with Dental Caries. J Dent Res. 2014;93:626-32 pubmed publisher..study of dental caries focused on primary teeth in children aged 3 to 12 yr and nominated several novel genes: ACTN2, EDARADD, EPHA7, LPO, MPPED2, MTR, and ZMPSTE24...
- Beggs A, Phillips H, Kozman H, Mulley J, Wilton S, Kunkel L, et al. A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. Genomics. 1992;13:1314-5 pubmedA CA dinucleotide repeat polymorphism has been identified for the skeletal muscle alpha-actinin gene ACTN2. The observed heterozygosity is 44% (predicted heterozygosity 50%, PIC 0.47)...
- Frey N, Olson E. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. J Biol Chem. 2002;277:13998-4004 pubmed..Calsarcins represent a novel family of sarcomeric proteins that serve as focal points for the interactions of an array of proteins involved in Z-disc structure and signal transduction in striated muscle. ..
- Itoh Satoh M, Hayashi T, Nishi H, Koga Y, Arimura T, Koyanagi T, et al. Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem Biophys Res Commun. 2002;291:385-93 pubmed..These observations suggest that titin mutations may cause DCM in a subset of the patients. ..
- Li Q, Dai X, Shen P, Wu Y, Long W, Chen C, et al. Direct binding of alpha-actinin enhances TRPP3 channel activity. J Neurochem. 2007;103:2391-400 pubmed..It remains to be determined whether the TRPP3-alpha-actinin interaction is relevant to acid sensing and other functions in neuronal and non-neuronal cells. ..
- Heese K, Nagai Y, Sawada T. Comparative gene identification-94--a pivotal regulator of apoptosis. Neuroscience. 2003;116:321-4 pubmed..In conclusion, CGI-94 appears to be involved in processes of neuronal degeneration. ..
- Battle M, Maher V, McCormick J. ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways. Biochemistry. 2003;42:7270-82 pubmed..Clearly, ST7 is an LRP, and therefore, it should now be referred to as LRP12. ..
- Linnemann A, van der Ven P, Vakeel P, Albinus B, Simonis D, Bendas G, et al. The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin. Eur J Cell Biol. 2010;89:681-92 pubmed publisher..Mutations in FLNC, ACTN2 and several other genes encoding Z-disc-related proteins cause myopathy and cardiomyopathy...
- Haywood N, Wolny M, Rogers B, Trinh C, Shuping Y, Edwards T, et al. Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation. Biochem J. 2016;473:2485-93 pubmed publisherActinin-2 (ACTN2) is the only muscle isoform of ?-actinin expressed in cardiac muscle. Mutations in this protein have been implicated in mild to moderate forms of hypertrophic cardiomyopathy (HCM)...
- Maruoka N, Steele D, Au B, Dan P, Zhang X, Moore E, et al. alpha-actinin-2 couples to cardiac Kv1.5 channels, regulating current density and channel localization in HEK cells. FEBS Lett. 2000;473:188-94 pubmed..The ion channels and alpha-actinin-2 co-localize at the membrane in HEK cells, where disruption of the actin cytoskeleton and antisense constructs to alpha-actinin-2 modulate the ion and gating current density. ..
- Harper S, Crawford R, DelloRusso C, Chamberlain J. Spectrin-like repeats from dystrophin and alpha-actinin-2 are not functionally interchangeable. Hum Mol Genet. 2002;11:1807-15 pubmed
- Asada M, Irie K, Morimoto K, Yamada A, Ikeda W, Takeuchi M, et al. ADIP, a novel Afadin- and alpha-actinin-binding protein localized at cell-cell adherens junctions. J Biol Chem. 2003;278:4103-11 pubmed..ADIP may connect the nectin-afadin and E-cadherin-catenin systems through alpha-actinin, and ADIP may be involved in organization of the actin cytoskeleton at AJs through afadin and alpha-actinin. ..
- Li H, Kedar V, Zhang C, McDonough H, Arya R, Wang D, et al. Atrogin-1/muscle atrophy F-box inhibits calcineurin-dependent cardiac hypertrophy by participating in an SCF ubiquitin ligase complex. J Clin Invest. 2004;114:1058-71 pubmed
- Krapivinsky G, Krapivinsky L, Manasian Y, Ivanov A, Tyzio R, Pellegrino C, et al. The NMDA receptor is coupled to the ERK pathway by a direct interaction between NR2B and RasGRF1. Neuron. 2003;40:775-84 pubmed..The specific association of RasGRF1 with the NR2B subunit and study of ERK activation in neurons with varied content of NR2B suggests that NR2B-containing channels are the dominant activators of the NMDA-dependent ERK pathway. ..
- Steiner Champliaud M, Schneider Y, Favre B, Paulhe F, Praetzel Wunder S, Faulkner G, et al. BPAG1 isoform-b: complex distribution pattern in striated and heart muscle and association with plectin and alpha-actinin. Exp Cell Res. 2010;316:297-313 pubmed publisher..Moreover, the protein level of BPAG1-b was reduced in muscle tissues from plectin-null mutant mice versus wild-type mice. These studies provide new insights into the role of BPAG1-b in the cytoskeletal organization of striated muscle. ..
- He X, Li L, Tang M, Zeng Y, Li H, Yu X. Biomimetic electrical stimulation induces rat bone marrow mesenchymal stem cells to differentiate into cardiomyocyte-like cells via TGF-beta 1 in vitro. Prog Biophys Mol Biol. 2017;: pubmed publisher..Furthermore, the protein expression levels of Connexin43 (Cx43) and Alpha-actinin 2 (ACTN2) induced by ES in BMSCs were significantly decreased by pirfenidone...
- Bagnall R, Molloy L, Kalman J, Semsarian C. Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. BMC Med Genet. 2014;15:99 pubmed publisher..Whole exome sequencing identified an Ala119Thr mutation in the alpha-actinin-2 (ACTN2) gene that segregated with disease...
- Kotaka M, Kostin S, Ngai S, Chan K, Lau Y, Lee S, et al. Interaction of hCLIM1, an enigma family protein, with alpha-actinin 2. J Cell Biochem. 2000;78:558-65 pubmed..Taken together, our experimental results suggest that hCLIM1is a novel cytoskeletal protein and may act as an adapter that brings other proteins to the cytoskeleton. ..
- Ziane R, Huang H, Moghadaszadeh B, Beggs A, Levesque G, Chahine M. Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction. Biochemistry. 2010;49:166-78 pubmed publisher..Our data suggest that alpha-actinin-2, which is known to regulate the functional expression of the potassium channels, may play a role in anchoring Na(v)1.5 to the membrane by connecting the channel to the actin cytoskeleton network. ..
- Girolami F, Iascone M, Tomberli B, Bardi S, Benelli M, Marseglia G, et al. Novel Î±-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. Circ Cardiovasc Genet. 2014;7:741-50 pubmed publisher..study, we present an Italian family with atypical HCM in which a novel disease-causing variant in Î±-actinin 2 (ACTN2) was identified by next-generation sequencing...