Aliases for TSPAN12 Gene
External Ids for TSPAN12 Gene
Previous HGNC Symbols for TSPAN12 Gene
Previous GeneCards Identifiers for TSPAN12 Gene
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
GeneCards Summary for TSPAN12 Gene
TSPAN12 (Tetraspanin 12) is a Protein Coding gene. Diseases associated with TSPAN12 include Exudative Vitreoretinopathy 5 and Norrie Disease. Gene Ontology (GO) annotations related to this gene include Wnt-activated receptor activity.
UniProtKB/Swiss-Prot for TSPAN12 Gene
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.