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norrin; Norrie disease protein; X-linked exudative vitreoretinopathy 2 protein (NDP, EVR2)
Function:
- neural cell differentiation & proliferation (putative)
- activates the canonical Wnt signaling pathway through FZD4 & an LRP coreceptor (putative)
- possible role in neuroectodermal cell-cell interaction
- interacts with FZD4 (putative)
Structure:
- oligomer
- disulfide-linked
- contains 1 CTCK domain (C-terminal cystine knot-like)
Compartment: secreted
Expression:
- expressed in the outer nuclear, inner nuclear & ganglion cell layers of the retina
- expressed in fetal & adult brain
Pathology:
- mutations seen in:
a) Norrie disease
b) X-linked familial exudative vitreoretinopathy
General
secreted protein
Properties
SIZE: entity length = 133 aa
MW = 15 kD
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-24}
C-terminal cystine knot {39-132}
MOTIF: cysteine residue {C39}
MODIFICATION: cysteine residue {C96}
cysteine residue {C55}
MODIFICATION: cysteine residue {C110}
cysteine residue {C65}
MODIFICATION: cysteine residue {C126}
cysteine residue {C69}
MODIFICATION: cysteine residue {C128}
cysteine residue {C96}
MODIFICATION: cysteine residue {C39}
cysteine residue {C110}
MODIFICATION: cysteine residue {C55}
cysteine residue {C126}
MODIFICATION: cysteine residue {C65}
cysteine residue {C128}
MODIFICATION: cysteine residue {C69}
Database Correlations
OMIM correlations
MORBIDMAP 300658
UniProt Q00604
Entrez Gene 4693
Kegg hsa:4693
References
UniProt :accession Q00604