DISEASES

Disease-gene associations mined from literature

Literature associating SORBS2 and facioscapulohumeral muscular dystrophy

SORBS2 [ENSP00000347852]

Sorbin and SH3 domain-containing protein 2; Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation of ABL1. May play a role in the regulation of pancreatic cell adhesion, possibly by acting on WASF1 phosphorylation, enhancing phosphorylation by ABL1, as well as dephosphorylation by PTPN12 . Isoform 6 increases water and sodium absorption in the intestine and gall-bladder.

Synonyms:  SORBS2,  SORBS2p,  hSORBS2,  A0A1D5RMN3,  A0A3B3ITL8 ...

Linkouts:  STRING  Pharos  UniProt