Entity Details

Primary name NDP_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ00604
EntryNameNDP_HUMAN
FullNameNorrin
TaxID9606
Evidenceevidence at protein level
Length133
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesNDP

GO terms

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GOName
GO:0001890 placenta development
GO:0005109 frizzled binding
GO:0005125 cytokine activity
GO:0005615 extracellular space
GO:0007033 vacuole organization
GO:0007399 nervous system development
GO:0007601 visual perception
GO:0009986 cell surface
GO:0016055 Wnt signaling pathway
GO:0031012 extracellular matrix
GO:0035426 extracellular matrix-cell signaling
GO:0042803 protein homodimerization activity
GO:0045893 positive regulation of transcription, DNA-templated
GO:0051091 positive regulation of DNA-binding transcription factor activity
GO:0061299 retina vasculature morphogenesis in camera-type eye
GO:0062023 collagen-containing extracellular matrix
GO:0110135 Norrin signaling pathway

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR003064 Norrie disease proteinFamilyFamily
IPR006207 Cystine knot, C-terminalDomainDomain
IPR006208 Glycoprotein hormone subunit betaDomainDomain
IPR029034 Cystine-knot cytokineFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
310600 OMIMNorrie disease (ND)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. The disease is caused by variants affecting the gene represented in this entry.
305390 OMIMVitreoretinopathy, exudative 2 (EVR2)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions