DISEASES

Disease-gene associations mined from literature

Literature associating TSPAN12 and exudative vitreoretinopathy

TSPAN12 [ENSP00000222747]

Transmembrane 4 superfamily member 12; Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1) (By similarity). Acts as a regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity; Tetraspanins

Synonyms:  TSPAN12,  TSPAN12p,  hTSPAN12,  A0A024R740,  C9IZ82 ...

Linkouts:  STRING  Pharos  UniProt  OMIM