Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
PhosphoSitePlus
HomeAbout PhosphoSiteUsing PhosphoSiteprivacy & cookiesCuration ProcessContact
logos LINCs Logo Mt Sinai Logo NIH Logo NCI Logo
Protein Page:
ACTN2 (human)

Overview
ACTN2 F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Belongs to the alpha-actinin family. Note: This description may include information from UniProtKB.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 1q42-q43
Cellular Component: actin filament; cytosol; dendritic spine; extracellular region; filopodium; focal adhesion; plasma membrane; pseudopodium; Z disc
Molecular Function: cytoskeletal protein binding; FATZ binding; identical protein binding; integrin binding; phosphatidylinositol-4,5-bisphosphate binding; protein binding; protein dimerization activity; protein domain specific binding; protein homodimerization activity; Ras guanyl-nucleotide exchange factor activity; structural constituent of muscle; titin binding
Biological Process: actin filament uncapping; cell adhesion; focal adhesion formation; MAPKKK cascade; microspike biogenesis; muscle filament sliding; negative regulation of potassium ion transport; platelet degranulation; positive regulation of potassium ion transport; protein homotetramerization; regulation of membrane potential; sarcomere organization
Disease: Cardiomyopathy, Dilated, 1aa
Reference #:  P35609 (UniProtKB)
Alt. Names/Synonyms: actinin, alpha 2; ACTN2; alpha-actinin skeletal muscle; Alpha-actinin skeletal muscle isoform 2; Alpha-actinin-2; CMD1AA
Gene Symbols: ACTN2
Molecular weight: 103,854 Da
Basal Isoelectric point: 5.31  Predict pI for various phosphorylation states
CST Pathways:  T Cell Receptor Signaling
Select Structure to View Below

ACTN2

Protein Structure Not Found.
Download PyMol Script
Download ChimeraX Script


STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Scansite  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene