InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NDP

Summary

InnateDB Protein

IDBP-58541.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NDP

Protein Name

Norrie disease (pseudoglioma)

Synonyms

EVR2; FEVR; ND;

Species

Homo sapiens

Ensembl Protein

ENSP00000367301

InnateDB Gene

IDBG-58539 (NDP)

Protein Structure

UniProt Annotation

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 Localization

Secreted {ECO:0000269PubMed:9407136}.

Disease Associations

Norrie disease (ND) [MIM:310600]: Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure. {ECO:0000269PubMed:10484772, ECO:0000269PubMed:10544980, ECO:0000269PubMed:11337749, ECO:0000269PubMed:1303264, ECO:0000269PubMed:1307245, ECO:0000269PubMed:14635119, ECO:0000269PubMed:15609522, ECO:0000269PubMed:15776010, ECO:0000269PubMed:16970763, ECO:0000269PubMed:17128466, ECO:0000269PubMed:17296899, ECO:0000269PubMed:17325173, ECO:0000269PubMed:17334993, ECO:0000269PubMed:20340138, ECO:0000269PubMed:7627181, ECO:0000269PubMed:7662640, ECO:0000269PubMed:7795608, ECO:0000269PubMed:7993212, ECO:0000269PubMed:8069314, ECO:0000269PubMed:8268931, ECO:0000269PubMed:8281159, ECO:0000269PubMed:8589700, ECO:0000269PubMed:8741107, ECO:0000269PubMed:8807344, ECO:0000269PubMed:8990009, ECO:0000269PubMed:9143918, ECO:0000269PubMed:9382152}. Note=The disease is caused by mutations affecting the gene represented in this entry.Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. {ECO:0000269PubMed:16163268, ECO:0000269PubMed:16970763, ECO:0000269PubMed:17296899, ECO:0000269PubMed:17325173, ECO:0000269PubMed:8252044, ECO:0000269PubMed:8946107, ECO:0000269PubMed:9143917}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain. {ECO:0000269PubMed:10452356}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005109	frizzled binding
GO:0005125	cytokine activity
GO:0005515	protein binding
GO:0008083	growth factor activity
GO:0042803	protein homodimerization activity

Biological Process

GO:0001890	placenta development
GO:0007033	vacuole organization
GO:0007165	signal transduction
GO:0007267	cell-cell signaling
GO:0007399	nervous system development
GO:0007601	visual perception
GO:0007605	sensory perception of sound
GO:0008283	cell proliferation
GO:0016055	Wnt signaling pathway
GO:0035426	extracellular matrix-cell signaling
GO:0045893	positive regulation of transcription, DNA-templated
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060070	canonical Wnt signaling pathway
GO:0061299	retina vasculature morphogenesis in camera-type eye