DISEASES

Disease-gene associations mined from literature

Literature associating C2CD5 and Koolen de Vries syndrome

C2CD5 [ENSP00000443204]

C2 domain-containing phosphoprotein of 138 kDa; Required for insulin-stimulated glucose transport and glucose transporter SLC2A4/GLUT4 translocation from intracellular glucose storage vesicle (GSV) to the plasma membrane (PM) in adipocytes. Binds phospholipid membranes in a calcium-dependent manner and is necessary for the optimal membrane fusion between SLC2A4/GLUT4 GSV and the PM; C2 domain containing

Synonyms:  C2CD5,  C2CD5p,  hC2CD5,  F5H2A1,  F5H3N1 ...

Linkouts:  STRING  Pharos  UniProt