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Ndp - Norrie disease (pseudoglioma) (human) Gene

Also Known as ND; Ndph

Species: Mus musculus

Gene Type: protein coding

Gene ID: 17986

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]

Ndp Products (1)

mRNA	Protein	Name
NM_010883.3	NP_035013.1	norrin precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cytokine activity	IDA IDA: Inferred from direct assay	15035989	MGI
enables frizzled binding	IPI IPI: Inferred from physical interaction	15035989	MGI

Biological Process GO Annotation	Evidence	References	Source
involved in Norrin signaling pathway	IDA IDA: Inferred from direct assay	15035989	MGI
acts upstream of or within action potential	IMP IMP: Inferred from mutant phenotype	9071226	MGI
acts upstream of or within angiogenesis	IGI IGI: Inferred from genetic interaction	27823583	MGI
acts upstream of or within angiogenesis	IMP IMP: Inferred from mutant phenotype	27823583	MGI
acts upstream of or within blood vessel remodeling	IMP IMP: Inferred from mutant phenotype	28575130	MGI
acts upstream of or within canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	29079753	MGI
acts upstream of or within cell population proliferation	IDA IDA: Inferred from direct assay	15716406	MGI
acts upstream of or within cell population proliferation	IMP IMP: Inferred from mutant phenotype	15716406	MGI
acts upstream of or within cellular response to hypoxia	IMP IMP: Inferred from mutant phenotype	30988181	MGI
acts upstream of or within cone retinal bipolar cell differentiation	IMP IMP: Inferred from mutant phenotype	9071226	MGI
acts upstream of or within dendrite development	IMP IMP: Inferred from mutant phenotype	30936556	MGI
acts upstream of or within dendritic spine development	IMP IMP: Inferred from mutant phenotype	30936556	MGI
acts upstream of or within endothelial cell differentiation	IMP IMP: Inferred from mutant phenotype	23217714	MGI
acts upstream of or within establishment of blood-brain barrier	IGI IGI: Inferred from genetic interaction	30478038	MGI
acts upstream of or within establishment of blood-brain barrier	IMP IMP: Inferred from mutant phenotype	23217714	MGI
acts upstream of or within establishment of blood-retinal barrier	IMP IMP: Inferred from mutant phenotype	29654250	MGI
acts upstream of or within exploration behavior	IMP IMP: Inferred from mutant phenotype	30936556	MGI
involved in extracellular matrix-cell signaling	IDA IDA: Inferred from direct assay	15035989	MGI
acts upstream of or within gene expression	IDA IDA: Inferred from direct assay	23201751	MGI
acts upstream of or within gene expression	IMP IMP: Inferred from mutant phenotype	22394677	MGI
acts upstream of or within glutathione metabolic process	IMP IMP: Inferred from mutant phenotype	30988181	MGI
acts upstream of or within glycine metabolic process	IMP IMP: Inferred from mutant phenotype	30988181	MGI
acts upstream of or within inflammatory response	IMP IMP: Inferred from mutant phenotype	29654250	MGI
acts upstream of or within lens development in camera-type eye	IDA IDA: Inferred from direct assay	15716406	MGI
acts upstream of or within lens development in camera-type eye	IMP IMP: Inferred from mutant phenotype	15716406	MGI
acts upstream of or within microglia differentiation	IMP IMP: Inferred from mutant phenotype	29654250	MGI
acts upstream of or within microglial cell proliferation	IMP IMP: Inferred from mutant phenotype	29654250	MGI
acts upstream of or within mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	22394677	MGI
acts upstream of or within neural retina development	IDA IDA: Inferred from direct assay	15716406	MGI
acts upstream of or within neural retina development	IMP IMP: Inferred from mutant phenotype	15716406	MGI
acts upstream of or within neuron apoptotic process	IDA IDA: Inferred from direct assay	29715368	MGI
acts upstream of or within neuron differentiation	IMP IMP: Inferred from mutant phenotype	30936556	MGI
acts upstream of or within optic nerve development	IDA IDA: Inferred from direct assay	29079753	MGI
acts upstream of or within placenta development	IMP IMP: Inferred from mutant phenotype	16035034	MGI
involved in positive regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	15035989	MGI
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	15035989	MGI
acts upstream of or within positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	29079753	MGI
acts upstream of or within protein localization	IMP IMP: Inferred from mutant phenotype	23217714	MGI
acts upstream of or within protein phosphorylation	IDA IDA: Inferred from direct assay	29079753	MGI
acts upstream of or within protein targeting to lysosome	IMP IMP: Inferred from mutant phenotype	28675177	MGI
acts upstream of or within protein ubiquitination	IMP IMP: Inferred from mutant phenotype	28675177	MGI
acts upstream of or within re-entry into mitotic cell cycle	IDA IDA: Inferred from direct assay	23201751	MGI
acts upstream of or within response to axon injury	IDA IDA: Inferred from direct assay	29079753	MGI
acts upstream of or within response to hypoxia	IMP IMP: Inferred from mutant phenotype	25414188	MGI
acts upstream of or within retina blood vessel maintenance	IMP IMP: Inferred from mutant phenotype	28575130	MGI
acts upstream of or within retina development in camera-type eye	IMP IMP: Inferred from mutant phenotype	9071226	MGI
acts upstream of or within retina layer formation	IMP IMP: Inferred from mutant phenotype	29654250	MGI
acts upstream of or within retina morphogenesis in camera-type eye	IDA IDA: Inferred from direct assay	15716406	MGI
acts upstream of or within retina morphogenesis in camera-type eye	IMP IMP: Inferred from mutant phenotype	15716406	MGI
acts upstream of or within retina vasculature development in camera-type eye	IDA IDA: Inferred from direct assay	15716406	MGI
acts upstream of or within retina vasculature development in camera-type eye	IMP IMP: Inferred from mutant phenotype	15716406	MGI
acts upstream of or within retina vasculature morphogenesis in camera-type eye	IGI IGI: Inferred from genetic interaction	19837032	MGI
acts upstream of or within retina vasculature morphogenesis in camera-type eye	IMP IMP: Inferred from mutant phenotype	18978344	MGI
acts upstream of or within retinal blood vessel morphogenesis	IMP IMP: Inferred from mutant phenotype	18978344	MGI
acts upstream of or within retinal ganglion cell axon guidance	IDA IDA: Inferred from direct assay	29079753	MGI
acts upstream of or within retinal pigment epithelium development	IMP IMP: Inferred from mutant phenotype	9071226	MGI
acts upstream of or within retinal rod cell differentiation	IMP IMP: Inferred from mutant phenotype	9071226	MGI
acts upstream of or within serine family amino acid metabolic process	IMP IMP: Inferred from mutant phenotype	30988181	MGI
acts upstream of or within smoothened signaling pathway	IDA IDA: Inferred from direct assay	23201751	MGI
acts upstream of or within transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	18978344	MGI
acts upstream of or within transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	29715368	MGI
acts upstream of or within tricarboxylic acid cycle	IMP IMP: Inferred from mutant phenotype	30988181	MGI
acts upstream of or within ubiquitin-dependent endocytosis	IMP IMP: Inferred from mutant phenotype	28675177	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	15035989	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
norrin	norrie disease protein homolog

Recombinant Ndp Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79131	Norrin Protein, Mouse	P48744 (K25-S131)	≥ 95%, as determined by reducing SDS-PAGE.

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-107139	JNJ-10229570	Antagonist	98.0%	Phase 2

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-113206A	D-Sedoheptulose-7-phosphate barium		99.70%	Unkown
HY-P2881	Nucleoside diphosphate kinase		/	Unkown
HY-113206	D-Sedoheptulose 7-phosphate		≥98.0%	Unkown
HY-E70122	Uridylate kinase		/	Unkown
HY-121183	Aprikalim	Activator	/	Unkown
HY-RS09113	NDP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19302	Ndp Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25793	Ndp Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Ndp	NCBI	NCBI:4693