DISEASES

Disease-gene associations mined from literature

Literature associating CD2AP and Denys-Drash syndrome

CD2AP [ENSP00000352264]

Cas ligand with multiple SH3 domains; Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of RET degradation (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis. Plays a role in epithelial cell junctions formation.

Synonyms:  CD2AP,  CD2APp,  hCD2AP,  Q9Y5K6,  Q9Y5K6p ...

Linkouts:  STRING  Pharos  UniProt  OMIM