DISEASES

Disease-gene associations mined from literature

Literature associating NECTIN3 and cleft lip-palate-ectodermal dysplasia syndrome

NECTIN3 [ENSP00000418070]

Nectin-3; Plays a role in cell-cell adhesion through heterophilic trans-interactions with nectin-like proteins or nectins, such as trans- interaction with NECTIN2 at Sertoli-spermatid junctions. Trans- interaction with PVR induces activation of CDC42 and RAC small G proteins through common signaling molecules such as SRC and RAP1. Also involved in the formation of cell-cell junctions, including adherens junctions and synapses. Induces endocytosis-mediated down-regulation of PVR from the cell surface, resulting in reduction of cell movement and proliferation. Plays a role in the morphology of the ciliary body.

Synonyms:  NECTIN3,  NECTIN3p,  hNECTIN3,  C9IZE6,  C9J795 ...

Linkouts:  STRING  Pharos  UniProt  OMIM