Disease-gene associations mined from literature

Literature associating CDH5 and uveal melanoma

CDH5 [ENSP00000344115]

Cadherin 5, type 2 (vascular endothelium); Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. This cadherin may play a important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. It associates with alpha-catenin forming a link to the cytoskeleton. Acts in concert with KRIT1 to establish and maintain correct endothelial cell polarity and vascular lumen. These effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for activation of PRKCZ and for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction; CD molecules

Synonyms:  CDH5,  CDH5p,  hCDH5,  B4DTR2,  H3BPG1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM