Entrez Summary: 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].
UniProt Summary: 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. {ECO:0000250, ECO:0000269|PubMed:19211836, ECO:0000269|PubMed:19587294}.
Pfam DomainsGO Terms
Pfam Domains
Tetraspannin
GO Terms
Wnt-activated receptor activity
retina layer formation
retina morphogenesis in camera-type eye
neural retina development
camera-type eye morphogenesis
retina development in camera-type eye
eye morphogenesis
sensory organ morphogenesis
regulation of angiogenesis
camera-type eye development
angiogenesis
regulation of vasculature development
cell-cell signaling by wnt
Wnt signaling pathway
eye development
visual system development
sensory system development
blood vessel morphogenesis
cell surface receptor signaling pathway involved in cell-cell signaling
blood vessel development
vasculature development
cardiovascular system development
sensory organ development
tube morphogenesis
tube development
circulatory system development
anatomical structure formation involved in morphogenesis
animal organ morphogenesis
regulation of anatomical structure morphogenesis
cell-cell signaling
integral component of plasma membrane
membrane
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)