DISEASES

Disease-gene associations mined from literature

Literature on SSX2IP

SSX2IP [ENSP00000340279]

Afadin- and alpha-actinin-binding protein; Belongs to an adhesion system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). May connect the nectin-afadin and E-cadherin- catenin system through alpha-actinin and may be involved in organization of the actin cytoskeleton at AJs through afadin and alpha- actinin (By similarity). Involved in cell movement: localizes at the leading edge of moving cells in response to PDGF and is required for the formation of the leading edge and the promotion of cell movement, possibly via activation of Rac signaling (By similarity). Acts as a centrosome maturation factor, probably by maintaining the integrity of the pericentriolar material and proper microtubule nucleation at mitotic spindle poles. The function seems to implicate at least in part WRAP73; the SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome (PubMed:23816619, PubMed:26545777). Involved in ciliogenesis . It is required for targeted recruitment of the BBSome, CEP290, RAB8, and SSTR3 to the cilia . ECO:0000269|PubMed:23816619, ECO:0000269|PubMed:24356449,

Synonyms:  SSX2IP,  SSX2IPp,  hSSX2IP,  C9JIX7,  Q9Y2D8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM