Aliases for ACTR2 Gene
External Ids for ACTR2 Gene
Previous GeneCards Identifiers for ACTR2 Gene
The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for ACTR2 Gene
ACTR2 (Actin Related Protein 2) is a Protein Coding gene. Diseases associated with ACTR2 include Wiskott-Aldrich Syndrome and Myopathy, Centronuclear, 2. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include actin filament binding and structural constituent of cytoskeleton. An important paralog of this gene is ACTC1.
UniProtKB/Swiss-Prot Summary for ACTR2 Gene
ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9000076). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9000076). Seems to contact the pointed end of the daughter actin filament (PubMed:9000076). In podocytes, required for the formation of lamellipodia downstream of AVIL and PLCE1 regulation (PubMed:29058690). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:17220302, PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).