DISEASES

Disease-gene associations mined from literature

Literature associating RAPGEF3 and polycystic liver disease

RAPGEF3 [ENSP00000395708]

Rap guanine nucleotide exchange factor 3; Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding cAMP. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which it activates the PI3K gamma complex and which is involved in angiogenesis. Plays a role in the modulation of the cAMP- induced dynamic control of endothelial barrier function through a pathway that is independent on Rho-mediated signaling. Required for the actin rearrangement at cell-cell junctions, such as stress fibers and junctional actin.

Synonyms:  RAPGEF3,  RAPGEF3p,  hRAPGEF3,  F8VRX1,  F8VVJ6 ...

Linkouts:  STRING  Pharos  UniProt