DISEASES

Disease-gene associations mined from literature

Literature on EHD2

EHD2 [ENSP00000263277]

EH domain-containing protein 2; ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (By similarity). Plays a role in membrane trafficking between the plasma membrane and endosomes. Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane (By similarity). Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane; EF-hand domain containing

Synonyms:  EHD2,  EHD2p,  hEHD2,  A0A024R0S6,  B4DNU6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM