ACTR2

Description

The ACTR2 (actin related protein 2) is a protein-coding gene located on chromosome 2.

The ACTR2 gene encodes Actin-related protein 2, a protein involved in the ARP2/3 complex, which is located at the cell surface. This complex is essential for cell shape and motility through lamellipodial actin assembly and protrusion. The gene has two transcript variants encoding different isoforms. The specific function of ACTR2 is yet to be determined, but it's known to be a major constituent of the ARP2/3 complex.

ACTR2 is an ATP-binding component of the Arp2/3 complex, a multiprotein complex that promotes actin polymerization. The Arp2/3 complex is activated by nucleation-promoting factors (NPFs) and mediates the formation of branched actin networks in the cytoplasm, driving cell motility. ACTR2 appears to interact with the pointed end of the daughter actin filament. In podocytes, ACTR2 is crucial for lamellipodia formation, downstream of AVIL and PLCE1 regulation. Notably, the Arp2/3 complex extends its function beyond the cytoplasm, promoting actin polymerization in the nucleus. This activity contributes to gene transcription and the repair of damaged DNA by facilitating homologous recombination (HR) repair. The Arp2/3 complex promotes HR repair by driving the motility of double-strand breaks (DSBs) through nuclear actin polymerization.

ACTR2 is also known as ARP2.

Associated Diseases

WES Whole Exome Sequencing