Gene: SORBS2

Alternate names for this Gene: ARGBP2|PRO0618

Gene Summary: Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.1

Description of this Gene: sorbin and SH3 domain containing 2

Type of Gene: protein-coding

rs2310357 in SORBS2 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1566347 in SORBS2 gene and Degenerative polyarthritis PMID 22763110 2012 Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.

rs4862562 in SORBS2 gene and Soluble Interleukin 6 Receptor Measurement PMID 25896417 2015 VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock.

rs11728712 in SORBS2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.