Gene Symbol | NDP |
---|---|
Entrez Gene | 4693 |
Alt Symbol | EVR2, FEVR, ND |
Species | Human |
Gene Type | protein-coding |
Description | Norrie disease (pseudoglioma) |
Other Description | X-linked exudative vitreoretinopathy 2 protein|norrie disease protein|norrin |
Swissprots | B2R8K6 Q00604 Q5JYH5 |
Accessions | EAW59376 Q00604 AK313409 BAG36203 AM392592 CAL37470 BC029901 AAH29901 BE139596 DA714180 X65724 CAA46639 X65882 CAA46713 NM_000266 NP_000257 |
Function | Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction. |
Subcellular Location | Secreted {ECO:0000269|PubMed:9407136}. |
Tissue Specificity | Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain. {ECO:0000269|PubMed:10452356}. |