Genomes and Genes
Gene Symbol: Actn2
Description: actinin alpha 2
Alias: 1110008F24Rik, alpha-actinin-2, F-actin cross-linking protein, alpha-actinin skeletal muscle
- Gokhin D, Lewis R, McKeown C, Nowak R, Kim N, Littlefield R, et al. Tropomodulin isoforms regulate thin filament pointed-end capping and skeletal muscle physiology. J Cell Biol. 2010;189:95-109 pubmed publisher..Thus, Tmod3 and -4 compensate for the absence of Tmod1 structurally but not functionally. We conclude that Tmod1 is a novel regulator of skeletal muscle physiology. ..
- Nguyen A, Xiao B, Neppl R, Kallin E, Li J, Chen T, et al. DOT1L regulates dystrophin expression and is critical for cardiac function. Genes Dev. 2011;25:263-74 pubmed publisher..In addition, our study may open new avenues for the diagnosis and treatment of human heart disease. ..
- Ieda M, Tsuchihashi T, Ivey K, Ross R, Hong T, Shaw R, et al. Cardiac fibroblasts regulate myocardial proliferation through beta1 integrin signaling. Dev Cell. 2009;16:233-44 pubmed publisher..These findings reveal a previously unrecognized paracrine function of embryonic cardiac fibroblasts in regulating cardiomyocyte proliferation. ..
- 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. ..
- Sanchez Ponce D, Blazquez Llorca L, DeFelipe J, Garrido J, Munoz A. Colocalization of ?-actinin and synaptopodin in the pyramidal cell axon initial segment. Cereb Cortex. 2012;22:1648-61 pubmed publisher..Together, these results indicate that ?-actinin and the actin cytoskeleton are important components of the cisternal organelle that are probably required to stabilize the AIS. ..
- Kaneko Oshikawa C, Nakagawa T, Yamada M, Yoshikawa H, Matsumoto M, Yada M, et al. Mammalian E4 is required for cardiac development and maintenance of the nervous system. Mol Cell Biol. 2005;25:10953-64 pubmed..UFD2a thus appears to be essential for the development of cardiac muscle, as well as for the protection of spinocerebellar neurons from degeneration induced by endoplasmic reticulum stress. ..
- Jain R, Li D, Gupta M, Manderfield L, Ifkovits J, Wang Q, et al. HEART DEVELOPMENT. Integration of Bmp and Wnt signaling by Hopx specifies commitment of cardiomyoblasts. Science. 2015;348:aaa6071 pubmed publisher..In addition, Bmp signals characterize adult stem cell niches in other tissues where Hopx-mediated inhibition of Wnt is likely to contribute to stem cell quiescence and to explain the role of Hopx as a tumor suppressor. ..
- Durham J, Brand O, Arnold M, Reynolds J, Muthukumar L, Weiler H, et al. Myospryn is a direct transcriptional target for MEF2A that encodes a striated muscle, alpha-actinin-interacting, costamere-localized protein. J Biol Chem. 2006;281:6841-9 pubmed..Our findings demonstrate that myospryn functions directly downstream of MEF2A at the costamere in striated muscle potentially playing a role in myofibrillogenesis. ..
- 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)...
- Yuan B, Wan P, Chu D, Nie J, Cao Y, Luo W, et al. A cardiomyocyte-specific Wdr1 knockout demonstrates essential functional roles for actin disassembly during myocardial growth and maintenance in mice. Am J Pathol. 2014;184:1967-80 pubmed publisher..Taken together, these results demonstrate that AIP1-regulated actin dynamics play essential roles in heart function in mice. ..
- Diehl A, Zareparsi S, Qian M, Khanna R, Angeles R, Gage P. Extraocular muscle morphogenesis and gene expression are regulated by Pitx2 gene dose. Invest Ophthalmol Vis Sci. 2006;47:1785-93 pubmed
- Beqqali A, Monshouwer Kloots J, Monteiro R, Welling M, Bakkers J, Ehler E, et al. CHAP is a newly identified Z-disc protein essential for heart and skeletal muscle function. J Cell Sci. 2010;123:1141-50 pubmed publisher..These findings suggest that CHAP is a critical component of the sarcomere with an important role in muscle development. ..
- Hall D, Dai S, Tseng P, Malik Z, Nguyen M, Matt L, et al. Competition between ?-actinin and Ca²?-calmodulin controls surface retention of the L-type Ca²? channel Ca(V)1.2. Neuron. 2013;78:483-97 pubmed publisher..2 at the plasma membrane and that its displacement by Ca²?-calmodulin triggers Ca²?-induced endocytosis of Ca(V)1.2, thus providing an important negative feedback mechanism for Ca²? influx. ..
- Kan O M, Takeya R, Taniguchi K, Tanoue Y, Tominaga R, Sumimoto H. Expression and subcellular localization of mammalian formin Fhod3 in the embryonic and adult heart. PLoS ONE. 2012;7:e34765 pubmed publisher..Furthermore, the exon 25-encoded region appears to be dispensable for actin-organizing activities both in vivo and in vitro, albeit it is inserted in the catalytic FH2 domain. ..
- 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. ..
- 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. ..
- Collins M, Husi H, Yu L, Brandon J, Anderson C, Blackstock W, et al. Molecular characterization and comparison of the components and multiprotein complexes in the postsynaptic proteome. J Neurochem. 2006;97 Suppl 1:16-23 pubmed..These synapse proteome data sets offer a basis for future research in synaptic biology and will provide useful information in brain disease and mental disorder studies. ..
- Huang Z, Young Seok H, Zhou B, Chen J, Chen J, Tao Y, et al. CIP, a cardiac Isl1-interacting protein, represses cardiomyocyte hypertrophy. Circ Res. 2012;110:818-30 pubmed publisher..Most importantly, overexpression of CIP repressed agonist-induced cardiomyocyte hypertrophy. Our studies therefore identify CIP as a novel regulator of cardiac hypertrophy. ..
- Guo C, Sun Y, Zhou B, Adam R, Li X, Pu W, et al. A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest. 2011;121:1585-95 pubmed publisher..Together, these findings reveal a Tbx1-Six1/Eya1-Fgf8 genetic pathway that is crucial for mammalian cardiocraniofacial morphogenesis and provide insights into the pathogenesis of human del22q11 syndromes. ..
- He L, Tian X, Zhang H, Hu T, Huang X, Zhang L, et al. BAF200 is required for heart morphogenesis and coronary artery development. PLoS ONE. 2014;9:e109493 pubmed publisher..Our work revealed that PBAF complex plays a critical role in heart morphogenesis and coronary artery angiogenesis. ..
- Lescroart F, Mohun T, Meilhac S, Bennett M, Buckingham M. Lineage tree for the venous pole of the heart: clonal analysis clarifies controversial genealogy based on genetic tracing. Circ Res. 2012;111:1313-22 pubmed publisher..Integration of results from genetic tracing into the lineage tree adds a further temporal dimension to this reconstruction of the history of venous myocardium and the arterial pole. ..
- Itoh S, Ding B, Shishido T, Lerner Marmarosh N, Wang N, Maekawa N, et al. Role of p90 ribosomal S6 kinase-mediated prorenin-converting enzyme in ischemic and diabetic myocardium. Circulation. 2006;113:1787-98 pubmed
- Tyser R, Miranda A, Chen C, Davidson S, Srinivas S, Riley P. Calcium handling precedes cardiac differentiation to initiate the first heartbeat. elife. 2016;5: pubmed publisher..NCX1 blockade impacted on CaMKII signalling to down-regulate cardiac gene expression, leading to impaired differentiation and failed crescent maturation. ..
- Shimoji K, Yuasa S, Onizuka T, Hattori F, Tanaka T, Hara M, et al. G-CSF promotes the proliferation of developing cardiomyocytes in vivo and in derivation from ESCs and iPSCs. Cell Stem Cell. 2010;6:227-37 pubmed publisher..These findings indicated that G-CSF is critically involved in cardiomyocyte proliferation during development, and may be used to boost the yield of cardiomyocytes from ESCs for their potential application to regenerative medicine. ..
- Mastrototaro G, Liang X, Li X, Carullo P, Piroddi N, Tesi C, et al. Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers. Cardiovasc Res. 2015;107:216-25 pubmed publisher..These results suggest that the nebulette disease causing mutations have dominant gain-of-function effects. ..
- Palmer S, Groves N, Schindeler A, Yeoh T, Biben C, Wang C, et al. The small muscle-specific protein Csl modifies cell shape and promotes myocyte fusion in an insulin-like growth factor 1-dependent manner. J Cell Biol. 2001;153:985-98 pubmed
- McKeown C, Nowak R, Gokhin D, Fowler V. Tropomyosin is required for cardiac morphogenesis, myofibril assembly, and formation of adherens junctions in the developing mouse embryo. Dev Dyn. 2014;243:800-17 pubmed publisher..Our data also identify a novel ?TM1/Tmod1-based pathway stabilizing F-actin at cell-cell junctions, which may be required for maintenance of cell shapes during embryonic cardiac morphogenesis. ..
- Brancaccio M, Guazzone S, Menini N, Sibona E, Hirsch E, De Andrea M, et al. Melusin is a new muscle-specific interactor for beta(1) integrin cytoplasmic domain. J Biol Chem. 1999;274:29282-8 pubmed
- Clay H, Wilsbacher L, Wilson S, Duong D, McDonald M, Lam I, et al. Sphingosine 1-phosphate receptor-1 in cardiomyocytes is required for normal cardiac development. Dev Biol. 2016;418:157-165 pubmed publisher..5 dpc. These results suggest that S1P signaling via S1P1 in cardiomyocytes plays a previously unknown and necessary role in heart development in mice. ..
- 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. ..
- Heineke J, Ruetten H, Willenbockel C, Gross S, Naguib M, Schaefer A, et al. Attenuation of cardiac remodeling after myocardial infarction by muscle LIM protein-calcineurin signaling at the sarcomeric Z-disc. Proc Natl Acad Sci U S A. 2005;102:1655-60 pubmed..Our study reveals a link between the stress sensor MLP and the calcineurin-NFAT pathway at the sarcomeric Z-disk in cardiomyocytes and indicates that reduced MLP-calcineurin signaling predisposes to adverse remodeling after MI. ..
- Vega Hernández M, Kovacs A, De Langhe S, Ornitz D. FGF10/FGFR2b signaling is essential for cardiac fibroblast development and growth of the myocardium. Development. 2011;138:3331-40 pubmed publisher..Inactivation of this signaling pathway results in fewer epicardial derived cells within the compact myocardium, decreased myocardial proliferation and a resulting smaller thin-walled heart. ..
- Nakazawa T, Komai S, Watabe A, Kiyama Y, Fukaya M, Arima Yoshida F, et al. NR2B tyrosine phosphorylation modulates fear learning as well as amygdaloid synaptic plasticity. EMBO J. 2006;25:2867-77 pubmed..We thus identify Tyr-1472 phosphorylation as a key mediator of fear learning and amygdaloid synaptic plasticity...
- Tian Y, Liu Y, Wang T, Zhou N, Kong J, Chen L, et al. A microRNA-Hippo pathway that promotes cardiomyocyte proliferation and cardiac regeneration in mice. Sci Transl Med. 2015;7:279ra38 pubmed publisher..Our data demonstrate the ability of microRNA-based therapeutic approaches to promote mammalian cardiac repair and regeneration through the transient activation of cardiomyocyte proliferation. ..
- 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
- Headon D, Emmal S, Ferguson B, Tucker A, Justice M, Sharpe P, et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature. 2001;414:913-6 pubmed..Our findings show that the death receptor/adapter signalling mechanism is conserved in developmental, as well as apoptotic, signalling. ..
- 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. ..
- Pun S, Sigrist M, Santos A, Ruegg M, Sanes J, Jessell T, et al. An intrinsic distinction in neuromuscular junction assembly and maintenance in different skeletal muscles. Neuron. 2002;34:357-70 pubmed..Our results show that postsynaptic differentiation processes intrinsic to FaSyn and DeSyn muscles influence the formation of NMJs during development and their maintenance in the adult. ..
- Dobbins G, Luo S, Yang Z, Xiong W, Mei L. alpha-Actinin interacts with rapsyn in agrin-stimulated AChR clustering. Mol Brain. 2008;1:18 pubmed publisher..Furthermore, the rapsyn-?-actinin interaction can be disrupted by inhibiting Abl and by cholinergic stimulation. Together these results indicate a role for ?-actinin in AChR clustering. ..
- van Vliet P, Lin L, Boogerd C, Martin J, Andelfinger G, Grossfeld P, et al. Tissue specific requirements for WNT11 in developing outflow tract and dorsal mesenchymal protrusion. Dev Biol. 2017;429:249-259 pubmed publisher..These studies revealed a previously unappreciated role for WNT11 for DMP formation and distinct tissue-specific requirements for WNT11 in outflow tract and DMP development. ..
- Yoon J, Olson E, Arnold H, Wold B. Different MRF4 knockout alleles differentially disrupt Myf-5 expression: cis-regulatory interactions at the MRF4/Myf-5 locus. Dev Biol. 1997;188:349-62 pubmed..cis-acting interactions between Myf-5 and MRF4 may therefore play a significant role in regulating expression of these genes in the early myotomes of wildtype embryos. ..
- 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. ..
- Nagy I, Railo A, Rapila R, Hast T, Sormunen R, Tavi P, et al. Wnt-11 signalling controls ventricular myocardium development by patterning N-cadherin and beta-catenin expression. Cardiovasc Res. 2010;85:100-9 pubmed publisher..We conclude that Wnt-11 signalling serves as a critical cell adhesion cue for the organization of the cardiomyocytes in the developing ventricular wall, which is essential for the establishment of a functional heart. ..
- Lu S, Borst D, Horowits R. N-RAP expression during mouse heart development. Dev Dyn. 2005;233:201-12 pubmed..The results are consistent with N-RAP functioning as a catalytic scaffolding molecule, with low levels of the scaffold being sufficient to repetitively catalyze key steps in myofibril assembly. ..
- Kos C, Le T, Sinha S, Henderson J, Kim S, Sugimoto H, et al. Mice deficient in alpha-actinin-4 have severe glomerular disease. J Clin Invest. 2003;111:1683-90 pubmed..In addition, these genetic studies demonstrate that the nonsarcomeric alpha-actinin-4 is involved in the regulation of cell movement. ..
- Patapoutian A, Yoon J, Miner J, Wang S, Stark K, Wold B. Disruption of the mouse MRF4 gene identifies multiple waves of myogenesis in the myotome. Development. 1995;121:3347-58 pubmed..Finally, a later and relatively mild phenotype was detected in intercostal muscles of newborn animals. ..
- Nygren J, Liuba K, Breitbach M, Stott S, Thorén L, Roell W, et al. Myeloid and lymphoid contribution to non-haematopoietic lineages through irradiation-induced heterotypic cell fusion. Nat Cell Biol. 2008;10:584-92 pubmed publisher..Our findings demonstrate that blood cells of the lymphoid and myeloid lineages contribute to various non-haematopoietic tissues by forming rare fusion hybrids, but almost exclusively in response to injuries or inflammation. ..
- 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. ..
- Ishihara T, Ban Ishihara R, Maeda M, Matsunaga Y, Ichimura A, Kyogoku S, et al. Dynamics of mitochondrial DNA nucleoids regulated by mitochondrial fission is essential for maintenance of homogeneously active mitochondria during neonatal heart development. Mol Cell Biol. 2015;35:211-23 pubmed publisher..Thus, the dynamics of mtDNA nucleoids regulated by mitochondrial fission is required for neonatal cardiomyocyte development by promoting homogeneous distribution of active mitochondria throughout the cardiomyocytes. ..
- 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. ..
- Ragni C, Diguet N, Le Garrec J, Novotova M, Resende T, Pop S, et al. Amotl1 mediates sequestration of the Hippo effector Yap1 downstream of Fat4 to restrict heart growth. Nat Commun. 2017;8:14582 pubmed publisher..This work uncovers a mechanism for the restriction of heart growth at birth, a process which impedes the regenerative potential of the mammalian heart. ..
- Domínguez J, Navarro F, Franco D, Thompson R, Aranega A. Temporal and spatial expression pattern of beta1 sodium channel subunit during heart development. Cardiovasc Res. 2005;65:842-50 pubmed..These results demonstrate that Scn1b is expressed during mouse heart development, suggesting it can play an important role in the action potential configuration of the cardiomyocytes during heart morphogenesis. ..
- Schiaffino S, Reggiani C. Molecular diversity of myofibrillar proteins: gene regulation and functional significance. Physiol Rev. 1996;76:371-423 pubmed..Both myosin and troponin isoforms contribute to the differences in the resistance to fatigue of muscle fibers...
- Zabludoff S, Csete M, Wagner R, Yu X, Wold B. p27Kip1 is expressed transiently in developing myotomes and enhances myogenesis. Cell Growth Differ. 1998;9:1-11 pubmed..At later times, when p27 protein has been down-regulated, it is proposed that accumulation of p18, p21, and p57 maintain the differentiated myocytes in a postmitotic state. ..
- Boogerd C, Aneas I, Sakabe N, Dirschinger R, Cheng Q, Zhou B, et al. Probing chromatin landscape reveals roles of endocardial TBX20 in septation. J Clin Invest. 2016;126:3023-35 pubmed publisher..This work illuminates gene networks that interact with TBX20 to orchestrate cardiac septation and provides insight into the chromatin landscape of endocardial lineages during septation. ..