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RNA tissue category: Group enriched (skeletal muscle, heart muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (skeletal muscle, heart muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (skeletal muscle, heart muscle)
GENE INFORMATION
Gene name
ACTN2
Synonyms
Description
Actinin, alpha 2 (HGNC Symbol)
Entrez gene summary
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000165 [MAPK cascade] GO:0000186 [activation of MAPKK activity] GO:0002576 [platelet degranulation] GO:0005178 [integrin binding] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding] GO:0005576 [extracellular region] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005884 [actin filament] GO:0005886 [plasma membrane] GO:0005925 [focal adhesion] GO:0007155 [cell adhesion] GO:0007173 [epidermal growth factor receptor signaling pathway] GO:0007264 [small GTPase mediated signal transduction] GO:0007265 [Ras protein signal transduction] GO:0007268 [synaptic transmission] GO:0007411 [axon guidance] GO:0007596 [blood coagulation] GO:0008092 [cytoskeletal protein binding] GO:0008286 [insulin receptor signaling pathway] GO:0008307 [structural constituent of muscle] GO:0008543 [fibroblast growth factor receptor signaling pathway] GO:0019904 [protein domain specific binding] GO:0030018 [Z disc] GO:0030035 [microspike assembly] GO:0030049 [muscle filament sliding] GO:0030168 [platelet activation] GO:0030175 [filopodium] GO:0031093 [platelet alpha granule lumen] GO:0031143 [pseudopodium] GO:0031432 [titin binding] GO:0038095 [Fc-epsilon receptor signaling pathway] GO:0042391 [regulation of membrane potential] GO:0042802 [identical protein binding] GO:0042803 [protein homodimerization activity] GO:0042981 [regulation of apoptotic process] GO:0043197 [dendritic spine] GO:0043267 [negative regulation of potassium ion transport] GO:0043268 [positive regulation of potassium ion transport] GO:0044325 [ion channel binding] GO:0045087 [innate immune response] GO:0045214 [sarcomere organization] GO:0046983 [protein dimerization activity] GO:0048010 [vascular endothelial growth factor receptor signaling pathway] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0048041 [focal adhesion assembly] GO:0051289 [protein homotetramerization] GO:0051373 [FATZ binding] GO:0051695 [actin filament uncapping] GO:0070062 [extracellular exosome] GO:0070080 [titin Z domain binding] GO:0086097 [phospholipase C-activating angiotensin-activated signaling pathway] GO:0090002 [establishment of protein localization to plasma membrane] GO:1901017 [negative regulation of potassium ion transmembrane transporter activity] GO:1901018 [positive regulation of potassium ion transmembrane transporter activity] GO:2000009 [negative regulation of protein localization to cell surface] GO:2001137 [positive regulation of endocytic recycling] GO:2001259 [positive regulation of cation channel activity]