SORBS2

Description

The SORBS2 (sorbin and SH3 domain containing 2) is a protein-coding gene located on chromosome 4.

SORBS2, also known as ArgBP2, Sorbin, and SH3 domain-containing protein 2, is a protein encoded by the SORBS2 gene in humans. It belongs to a small family of adaptor proteins with sorbin homology (SOHO) domains. ArgBP2 is abundant in cardiac muscle cells at sarcomeric Z-disc structures and is expressed in other cells at actin stress fibers and the nucleus. It exists in up to 9 isoforms ranging from 52 kDa to 117 kDa (492 to 1100 amino acids). ArgBP2 possesses three SH3 domains involved in cell adhesion, cytoskeletal organization, and growth factor signaling, and a SOHO domain. The SH3 domains interact with Arg/Abl and vinculin, while the SOHO domain interacts with flotillin found in lipid rafts. The subcellular localization of ArgBP2 suggests its function as an adaptor protein assembling signaling complexes in stress fibers, potentially connecting Abl family kinases to the actin cytoskeleton. ArgBP2 contains multiple potential Abl phosphorylation sites, and Arg and c-Abl are the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases.

SORBS2 acts as an adaptor protein, assembling signaling complexes and linking ABL kinases to the actin cytoskeleton. It forms complexes with ABL1 and CBL, promoting ABL1 ubiquitination and degradation. SORBS2 may regulate pancreatic cell adhesion by influencing WASF1 phosphorylation, enhancing ABL1 phosphorylation, and facilitating PTPN12 dephosphorylation. Isoform 6 of SORBS2 enhances water and sodium absorption in the intestine and gallbladder.

SORBS2 is also known as ARGBP2, PRO0618.

Associated Diseases

WES Whole Exome Sequencing