Ndp Norrie disease (pseudoglioma) (human) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndpprovided by MGI
Official Full Name: Norrie disease (pseudoglioma) (human)provided by MGI
Primary source: MGI:MGI:102570
See related: Ensembl:ENSMUSG00000040138 AllianceGenome:MGI:102570
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ND; Ndph
Summary: This gene encodes a secreted protein that acts a ligand for multiple different receptors and participates in both Wnt and Wnt-independant signalling. Its activity is important in vascular development of the eye and inner ear. Mutation of the related gene in humans causes Norrie syndrome. [provided by RefSeq, May 2015]
Expression: Biased expression in subcutaneous fat pad adult (RPKM 4.4), frontal lobe adult (RPKM 4.3) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.2; X 12.07 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (16751760..16778013, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (16885521..16911774, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Norrie disease protein is essential for cochlear hair cell maturation.
Title: Norrie disease protein is essential for cochlear hair cell maturation.
In the developmental retinal vascular pathology present in the Ndph-knockout mouse inflammatory processes are active.
Title: Cystoid edema, neovascularization and inflammatory processes in the murine Norrin-deficient retina.
Norrin protects optic nerve axons from degeneration in a mouse model of glaucoma
Title: Norrin protects optic nerve axons from degeneration in a mouse model of glaucoma.
Study shows that astrocytic Norrin appears to regulate dendrites and spines. Astroglia are enriched in mouse cortical layer V; express Norrin and leucine-rich repeat-containing G-protein-coupled receptor 6, are found in the human cortex; and modulate neuronal activity.
Title: Molecularly defined cortical astroglia subpopulation modulates neurons via secretion of Norrin.
High amounts of TGF-beta in the eye cause a substantial reduction in the activity of Wnt/beta-catenin signaling. This effect is inhibited in the presence of high amounts of Norrin, which further induce the expression of SMAD7 to inhibit TGF-beta signaling.
Title: Cross-Inhibition of Norrin and TGF-β Signaling Modulates Development of Retinal and Choroidal Vasculature.
experiments define the extent of CNS region-specific cooperation for several components of the Norrin and Wnt7a/Wnt7b systems, and they reveal substantial regional heterogeneity in the extent to which partially redundant ligands, receptors, and coactivators maintain the blood-brain barrier and blood-retina barrier
Title: Interplay of the Norrin and Wnt7a/Wnt7b signaling systems in blood-brain barrier and blood-retina barrier development and maintenance.
NORRIN presented to FZD4 further increases cardiomyocyte output via proliferation through the canonical WNT pathway.
Title: FZD4 Marks Lateral Plate Mesoderm and Signals with NORRIN to Increase Cardiomyocyte Induction from Pluripotent Stem Cell-Derived Cardiac Progenitors.
NDP is a potent trigger of FZD4 ubiquitination and induces internalization of the NDP receptor complex into the endo-lysosomal compartment. Inhibition of ubiquitinated cargo transport strongly impairs NDP/FZD4 signalling in vitro and recapitulates CNS angiogenesis and blood-CNS-barrier defects caused by impaired vascular beta-catenin signalling in mice.
Title: Norrin-induced Frizzled4 endocytosis and endo-lysosomal trafficking control retinal angiogenesis and barrier function.
results provide functional and biochemical dissection of Fzd4 in Norrin signaling.
Title: Biophysical and functional characterization of Norrin signaling through Frizzled4.
The endogenously expressed Lgr4 may act as an antagonist molecule that helps to fine-tune the R-spondin/norrin-mediated Lgr4-Wnt signaling during gonadal development.
Title: A naturally occurring Lgr4 splice variant encodes a soluble antagonist useful for demonstrating the gonadal roles of Lgr4 in mammals.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXMit56 (e-PCR), detects polymorphism
- UniSTS:132161

RH144057 (e-PCR)
- UniSTS:233303

X83794 (e-PCR)
- UniSTS:209505

X92397 (e-PCR)
- UniSTS:209506

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IDA Inferred from Direct Assay more info	PubMed
enables cytokine activity	ISO Inferred from Sequence Orthology more info
enables frizzled binding	IBA Inferred from Biological aspect of Ancestor more info
enables frizzled binding	IPI Inferred from Physical Interaction more info	PubMed
enables frizzled binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Norrin signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in Norrin signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in Norrin signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within action potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within angiogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cone retinal bipolar cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in decidualization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within dendrite development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dendritic spine development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endothelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of blood-brain barrier	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within establishment of blood-brain barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of blood-retinal barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within exploration behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix-cell signaling	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glutathione metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens development in camera-type eye	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microglia differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microglial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural retina development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neural retina development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within optic nerve development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein targeting to lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within re-entry into mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to axon injury	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina blood vessel maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina layer formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina morphogenesis in camera-type eye	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina vasculature development in camera-type eye	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within retina vasculature development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina vasculature morphogenesis in camera-type eye	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within retina vasculature morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal ganglion cell axon guidance	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within retinal pigment epithelium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal rod cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within serine family amino acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within tricarboxylic acid cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ubiquitin-dependent endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: norrin

Names: norrie disease protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010883.3 → NP_035013.1 norrin precursor

Status: REVIEWED

Source sequence(s)

BC090623, CJ062577

Consensus CDS

CCDS30034.1

UniProtKB/Swiss-Prot

P48744, Q5CZY6

Related

ENSMUSP00000046692.8, ENSMUST00000040134.8

Conserved Domains (1) summary

smart00041
Location:41 → 127

CT; C-terminal cystine knot-like domain (CTCK)